VASCERN resources in all languages

Qué hacer y qué no hacer con el cuidado de la piel en el linfedema pediátrico y primario

O que fazer e o que não fazer nos cuidados com a pele do linfedema pediátrico e primário

Linfedema pediátrico e primário O que fazer e o que não fazer com a compressão para crianças

Management of aortic disease in children with FBN1-related Marfan syndrome

September 09 2024

A joint statement from the paediatric subgroup of the European Reference Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease working group) and the Association for European Paediatric and Congenital Cardiology (AEPC).

Muiño-Mosquera L, Cervi E, De Groote K, Dewals W, Fejzic Z, Kazamia K, Mathur S, Milleron O, Mir TS, Nielsen DG, Odermarsky M, Sabate-Rotes A, van der Hulst A, Valenzuela I, Jondeau G. Management of aortic disease in children with FBN1-related Marfan syndrome. Eur Heart J. 2024 Sep 9:ehae526. doi: 10.1093/eurheartj/ehae526. Epub ahead of print. PMID: 39250726.

2024 ESC Guidelines for the management of peripheral arterial and aortic diseases

August 30 2024

Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC). Endorsed by the European Association for Cardio-Thoracic Surgery (EACTS), the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), and the European Society of Vascular Medicine (ESVM).

Lucia Mazzolai, Gisela Teixido-Tura, Stefano Lanzi, Vinko Boc, Eduardo Bossone, Marianne Brodmann, Alessandra Bura-Rivière, Julie De Backer, Sebastien Deglise, Alessandro Della Corte, Christian Heiss, Marta Kałużna-Oleksy, Donata Kurpas, Carmel M McEniery, Tristan Mirault, Agnes A Pasquet, Alex Pitcher, Hannah A I Schaubroeck, Oliver Schlager, Per Anton Sirnes, Muriel G Sprynger, Eugenio Stabile, Françoise Steinbach, Matthias Thielmann, Roland R J van Kimmenade, Maarit Venermo, Jose F Rodriguez-Palomares, ESC Scientific Document Group.

Is there a Caucasian Type of Moyamoya?

August 07 2024

In the webinar, Prof. Dr. Markus Krämer, a leading expert in Moyamoya disease, explores the characteristics and prevalence of this rare cerebrovascular condition in Caucasian populations. Traditionally associated with East Asian populations, Moyamoya has increasingly been identified in other ethnic groups, including Caucasians. Prof. Dr. Krämer presents the latest research findings, covering epidemiology, histopathological differences, and insights from genetic studies. He also discusses the clinical and angiographic presentation in Caucasian patients, along with current diagnostic and treatment approaches.

CADASIL Patient Pathway

July 18 2024

The CADASIL Patient Pathway document, prepared by the VASCERN NEUROVASC Working Group, outlines a comprehensive patient management strategy for CADASIL. It details diagnostic, genetic testing, and follow-up protocols for asymptomatic and symptomatic individuals, including the role of geneticists, neurologists, and multidisciplinary care teams. The pathway emphasizes the importance of specialized centers for accurate diagnosis and management.

Pediatric and Primary Lymphedema Do’s and Don’ts Infographic

July 01 2024

Pediatric and Primary Lymphedema Coloring Book

July 01 2024

This coloring book offers a fun and interactive way for children to learn about managing lymphedema. The activities in the book are tailored to educate children on the importance of proper skin care to prevent infections and keep their skin healthy.

Bewährtes und Neues zur Moyamoya-Angiopathie

June 13 2024

In this webinar, Prof. Dr. Markus Krämer, a neurologist from Alfried Krupp Hospital Ruettenscheid, provided an in-depth look into Moyamoya angiopathy, a rare cerebrovascular disorder. Presented in German, the session covered both well-established and new approaches to understanding and managing the condition. Prof. Dr. Krämer also discussed the diagnosis, symptoms, and progression of Moyamoya angiopathy, offering valuable insights into its treatment and ongoing research.

Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN‑VASCA

May 22 2024

This article offers comprehensive guidelines for improving genetic testing in vascular malformations. Despite advancements, access to genetic testing is limited, and inconsistent methods impact test accuracy. This study, involving experts from 11 European centers, reviews genes linked to non-hereditary vascular malformations, evaluates gene-disease associations, and provides recommendations for identifying mosaicism and interpreting variants. A core list of 24 genes was selected, with 45 gene-phenotype associations evaluated. The findings emphasize the importance of understanding gene-phenotype relationships to improve diagnostics and patient care.

VASCA Magazine Edition 2

May 06 2024

Guide for Primary School Teachers

Guide for Secondary School Teachers

Guide for primary school teachers with pupils with bloodvessel (vascular) malformations. This guide has been produced by CMTC-OVM and has been reviewed and validated by the VASCERN Vascular Anomalies (VASCA) Working Group.

Psychological Aspects of Living with a Rare Condition

Guide for secondary school teachers with students with bloodvessel (vascular) malformations. This guide has been produced by CMTC-OVM and has been reviewed and validated by the VASCERN Vascular Anomalies (VASCA) Working Group.

Parent Support Guide for 12-17 years

The psychological aspects of living with a rare disease.

Parent Support Guide for 5-11 years

Parent support guide for the care of a child with a rare condition for 12-17 years of age. This guide has been produced by CMTC-OVM and has been reviewed and validated by the VASCERN Vascular Anomalies (VASCA) Working Group.

Parent Support Guide for 0-4 years

Parent support guide for the care of a child with a rare condition for 5-11 years of age. This guide has been produced by CMTC-OVM and has been reviewed and validated by the VASCERN Vascular Anomalies (VASCA) Working Group.

Parent Support Guide for <0 years

Parent support guide for the care of a child with a rare condition from 0 – 4 years of age. This guide has been produced by CMTC-OVM and has been reviewed and validated by the VASCERN Vascular Anomalies (VASCA) Working Group.

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

Parent support guide for the care of a child with a rare condition under 0 years of age. This guide has been produced by CMTC-OVM and has been reviewed and validated by the VASCERN Vascular Anomalies (VASCA) Working Group.

This comprehensive e-learning course on Vascular Ehlers-Danlos syndrome (vEDS) is designed to provide healthcare professionals, researchers, and individuals affected by the condition with a thorough understanding of its diagnosis, management, and impact on patients’ lives.

Click the links below to explore the course

February 14 2024

De Bortoli M, Ivars M, Revencu N, Nassogne MC, Lavarino C, Paco S, Lammens M, Renders A, Dumitriu D, Helaers R, Boon LM, Baselga E, Vikkula M. Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. Am J Med Genet A. 2024 Feb 6:e63551. doi: 10.1002/ajmg.a.63551. Epub ahead of print. PMID: 38321651.

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema

December 23 2023

Devoogdt N, Thomis S, Belva F, Dickinson-Blok J, Fourgeaud C, Giacalone G, Karlsmark T, Kavola H, Keeley V, Marques ML, Mansour S, Nissen CV, Nørregaard S, Oberlin M, Ručigaj TP, Somalo-Barranco G, Suominen S, Van Duinen K, Vignes S, Damstra R. The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema. Eur J Med Genet. 2024 Dec 23;67:104905. doi: 10.1016/j.ejmg.2023.104905. Epub ahead of print. PMID: 38143023.

VASCERN-VASCA Consensus Statement: Sirolimus and Fertility

December 20 2023

This document is based on the statement elaborated by ASPHO SIG (The American Society of Pediatric Hematology/Oncology Special Interest Group) and CaNVAS (Consortium of iNvestigators of Vascular AnomalieS), USA in December 2023, and further revised by the VASCERN (European Reference Network for Multisystemic Rare Vascular Diseases) VASCA (Vascular Anomalies) working group.

Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: Long-term results of endoscopic treatment

December 15 2023

Manfredi G, Crinò SF, Alicante S, Romeo S, Berté R, Gandolfi S, Spinazzola A, Fiini M, Forner P, Buscarini E. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: Long-term results of endoscopic treatment. Endosc Int Open. 2023 Dec 15;11(12):E1145-E1152. doi: 10.1055/a-2190-9303. PMID: 38108019; PMCID: PMC10723967.

Nonfunctional TGF-β/ALK1/ENG signaling pathway supports neutrophil proangiogenic activity in hereditary hemorrhagic telangiectasia

November 24 2023

Duerig I, Pylaeva E, Ozel I, Wainwright S, Thiel I, Bordbari S, Domnich M, Siakaeva E, Lakomek A, Toppe F, Schleupner C, Geisthoff U, Lang S, Droege F, Jablonska J. Nonfunctional TGF-β/ALK1/ENG signaling pathway supports neutrophil proangiogenic activity in hereditary hemorrhagic telangiectasia. J Leukoc Biol. 2023 Nov 24;114(6):639-650. doi: 10.1093/jleuko/qiad090. PMID: 37555392.

The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function

November 14 2023

Lyster AL, Biørn SH, Kjeldsen AD, Nielsen C, Lange B, Fialla AD, Vinholt PJ. The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function. Orphanet J Rare Dis. 2023 Nov 14;18(1):354. doi: 10.1186/s13023-023-02968-z. PMID: 37964294; PMCID: PMC10648329.

High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia

November 13 2023

Kofoed MS, Tørring PM, Christensen AA, Lange B, Kjeldsen AD, Nielsen TH. High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia. Eur J Neurol. 2024 Feb;31(2):e16128. doi: 10.1111/ene.16128. Epub 2023 Nov 13. PMID: 37955551.

Preliminary results of the European multicentric phase III VASE trial regarding sirolimus in slow-flow vascular malformations

November 10 2023

Seront E, Van Damme A, Legrand C, Bisdorff-Bresson A, Orcel P, Funck-Brentano T, Sevestre MA, Dompmartin A, Quere I, Brouillard P, Revencu N, De Bortoli M, Hammer F, Clapuyt P, Dumitriu D, Vikkula M, Boon LM. Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations. JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095. PMID: 37937645.

Информационна брошура на ERN за 2023 г.

ERN Folleto informativo 2023

Informační brožura ERN 2023

ERN informationsbrochure 2023

ERN-Informationsbroschüre 2023

ERNi infobrošüür 2023

Ενημερωτικό φυλλάδιο ERN 2023

ERN-informasjonsbrosjyre 2023

ERN:s informationsbroschyr 2023

ERN-tietoesite 2023

Informacijska brošura ERN 2023

Informačná brožúra ERN 2023

Broșura informativă ERN 2023

Brochura de informação sobre a ERN 2023

Broszura informacyjna ERN 2023

ERN informatiebrochure 2023

Fuljett ta’ Informazzjoni ERN 2023

ERN információs brosúra 2023

2023 m. ERN informacinė brošiūra

ERN informācijas brošūra 2023

Opuscolo informativo ERN 2023

ERN informativna brošura 2023

Brochure d’information ERN 2023

ERN Information Brochure 2023

There is insufficient evidence to lower the threshold for prophylactic aortic surgery

November 04 2023

Milleron O, Eliahou L, Jondeau G. There is insufficient evidence to lower the threshold for prophylactic aortic surgery. Eur Heart J. 2023 Nov 4:ehad690. doi: 10.1093/eurheartj/ehad690. Epub ahead of print. PMID: 37936302.

This course is designed to provide healthcare professionals, researchers and patients with a better understanding of Marfan Syndrome. It covers signs and symptoms, specific aspects, and patient follow-up.

Click on the links below to explore the course

Do’s and Don’ts Factsheets on Marfan syndrome and Related Disorders

October 18 2023

The new version 2 of the Marfan syndrome and Related Disorders Do’s & Don’ts.

General Patient Pathway for Pediatric and Primary Lymphedema (PPL)

October 06 2023

This is version 4 of the General Patient Pathway for Pediatric and Primary Lymphedema. It offers a detailed pathway that outlines the journey from diagnosis through treatment and management. For more insights on the patient pathway for pediatric and primary lymphedema, we invite you also to read the published paper.

Patient-centered Quality Outcome Measures of Heritable Thoracic Aortic Disease Care

September 08 2023

Unraveling the Role of TGFβ Signaling in Thoracic Aortic Aneurysm and Dissection Using Fbn1 Mutant Mouse Models

September 06 2023

Deleeuw V, Carlson E, Renard M, Zientek KD, Wilmarth PA, Reddy AP, Manalo EC, Tufa SF, Keene DR, Olbinado M, Stampanoni M, Kanki S, Yanagisawa H, Mosquera LM, Sips P, De Backer J, Sakai LY. Unraveling the Role of TGFβ Signaling in Thoracic Aortic Aneurysm and Dissection Using Fbn1 Mutant Mouse Models. Matrix Biol. 2023 Sep 6:S0945-053X(23)00095-1. doi: 10.1016/j.matbio.2023.09.001. Epub ahead of print. PMID: 37683955.

September 04 2023

Bouwman FCM, Verhaak C, de Blaauw I, Kool LJS, Loo DMWMT, van Rooij IALM, van der Vleuten CJM, Botden SMBI, Verhoeven BH. Health-related quality of life in children with congenital vascular malformations. Eur J Pediatr. 2023 Nov;182(11):5067-5077. doi: 10.1007/s00431-023-05166-y. Epub 2023 Sep 4. PMID: 37665335; PMCID: PMC10640403.

Pediatric vascular anomalies in Austria. Where are we at? A survey among primary care pediatricians

August 17 2023

Gasparella P, Senica SO, Singer G, Banfi C, Flucher C, Beqo BP, Till H, Haxhija EQ. Pediatric vascular anomalies in Austria. Where are we at? A survey among primary care pediatricians. Front Pediatr. 2023 Aug 17;11:1216460. doi: 10.3389/fped.2023.1216460. PMID: 37664549; PMCID: PMC10473968.

Graviditet og primært lymfødem

Entbindung/ Gebären und Postpartum bei Lymphödem

Dette er en omfattende videoserie i tre dele med Dr. Michael Oberlin, en erfaren specialist i lymfologi, og Elena Matta, en engageret fortaler for patienter med pædiatrisk og primær lymfødem. Denne informative serie er omhyggeligt udformet i et spørgsmål-og-svar-format, som adresserer vigtige spørgsmål vedrørende familieplanlægning, graviditet og fødsel/pleje efter fødslen for patienter med primær lymfødem. Skabt specielt til personer med primær lymfødem og deres partnere.

Første del: Familieplanlægning ved primær lymfødem
Anden del: Graviditet ved primær lymfødem
Tredje del: Fødsel/pleje efter fødslen ved primær lymfødem

Denne video er på tysk med undertekster, der i øjeblikket kun er tilgængelige på engelsk.

For at få adgang til de fulde spørgsmål og svar, klik venligst på linkene nedenfor: Dansk

Familienplanung bei Lymphödem

Dieses Video ist Teil einer umfassenden dreiteiligen Videoreihe mit Dr. Michael Oberlin, einem erfahrenen Spezialisten für Lymphologie, und Elena Matta, einer leidenschaftlichen Verfechterin von pädiatrischen und primären Lymphödempatienten. Diese informative Reihe wurde sorgfältig in einem Frage- und Antwortformat zusammengestellt und behandelt dringende Fragen rund um Familienplanung, Schwangerschaft und Entbindung/Postpartale Versorgung für Patienten mit primärem Lymphödem. Sie wurde speziell für Menschen mit primärem Lymphödem und ihre Partner erstellt.

Dieses Video ist in deutscher Sprache mit Untertiteln, die derzeit nur in Englisch verfügbar sind.

Um zu den vollständigen Fragen und Antworten zu gelangen, klicken Sie bitte auf die nachstehenden Link:

Deutsch

Schwangerschaft und Lymphödeme

Dieses Video ist in deutscher Sprache mit Untertiteln, die derzeit nur in Englisch verfügbar sind.

Um zu den vollständigen Fragen und Antworten zu gelangen, klicken Sie bitte auf die nachstehenden Link:

Deutsch

Pregnancy and Primary Lymphedema

Dieses Video ist in deutscher Sprache mit Untertiteln, die derzeit nur in Englisch verfügbar sind.

Um zu den vollständigen Fragen und Antworten zu gelangen, klicken Sie bitte auf die nachstehenden Links:

Deutsch

Бременност и първичен лимфедем

This is a comprehensive 3-part video series featuring Dr. Michael Oberlin, an experienced Lymphology specialist, and Elena Matta, a passionate pediatric and primary lymphedema patient advocate. This informative series has been thoughtfully crafted in a question and answer format, addressing pressing questions surrounding family planning, pregnancy, and delivery/postpartum care for primary lymphedema patients. Created specifically for individuals with primary lymphedema and their partners.

First part: Family Planning in Primary Lymphedema
Second part: Pregnancy in Primary Lymphedema
Third part: Delivery/Postpartum Care in Primary Lymphedema

This video is in German with subtitles currently available only in English.

To access the full questions and answers, please click on the links below:

Bulgarian Danish Dutch English French German Italian Norwegian Portuguese Spanish Swedish

August 03 2023

Това е всеобхватна видео поредица в три части с участието на д-р Майкъл Оберлин, опитен специалист по лимфология, и Елена Мата, страстен застъпник за пациенти с детски и първичен лимфедем. Тази информативна поредица е внимателно създадена в формат въпроси и отговори, като се разглеждат належащи въпроси, свързани с планиране на семейство, бременност и грижи по време на раждане и следродилния период за пациенти с първичен лимфедем. Създадена е специално за хора с първичен лимфедем и техните партньори.

Първа част: Планиране на семейство при първичен лимфедем
Втора част: Бременност при първичен лимфедем
Трета част: Раждане/грижи след раждането при първичен лимфедем

Това видео е на немски език, със субтитри, които в момента са налични само на английски.

За достъп до пълните въпроси и отговори, моля, кликнете на връзките по-долу: Български

Severe/Rare Infantile Hemangiomas (IH) Do’s & Don’ts

June 30 2023

VASCA Magazine Edition 1

June 14 2023

The first edition of the VASCA Magazine issued in April 2021.

This comprehensive e-learning course on Hereditary Haemorrhagic Telangiectasia (HHT) is designed to provide healthcare professionals, researchers, and individuals affected by the condition with a thorough understanding of its diagnosis, management, and impact on patients’ lives.

Click the links below to explore the course

Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis

June 10 2023

Xiang-Tischhauser L, Bette M, Rusche JR, Roth K, Kasahara N, Stuck BA, Bakowsky U, Wartenberg M, Sauer H, Geisthoff UW, Mandic R. Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis. Cells. 2023 Jun 10;12(12):1600. doi: 10.3390/cells12121600. PMID: 37371070; PMCID: PMC10297623.

A case report of sirolimus use in early fetal management of lymphatic malformation

June 05 2023

Seront E, Biard J.M, Van Damme A, Revencu N, Lengelé B, Schmitz S, de Toeuf C, Clapuyt P, Veyckemans F, Prégardien C, Vikkula M, Bernard P, Boon Laurence M. A case report of sirolimus use in early fetal management of lymphatic malformation. Nat Cardiovasc Res (2023). https://doi.org/10.1038/s44161-023-00280-4

Progression of initially unilateral Moyamoya angiopathy in Caucasian Europeans

June 01 2023

Strunk D, Diehl RR, Veltkamp R, Meuth SG, Kraemer M. Progression of initially unilateral Moyamoya angiopathy in Caucasian Europeans. J Neurol. 2023 Sep;270(9):4415-4422. doi: 10.1007/s00415-023-11793-0. Epub 2023 Jun 1. PMID: 37261501.

Do’s and Don’ts Factsheets for Hereditary Haemorrhagic Telangiectasia (V2)

May 26 2023

Everything you wanted to know about Vascular Ehlers-Danlos Syndrome Part 2

May 23 2023

In this webinar, Prof Tristan Mirault, Professor of Vascular Medicine from AP-HP Hôpital Européen Georges Pompidou, Dr. Anna Stenborg, Physician from Uppsala University Hospital, and Eva Collado, a vEDS patient advocate and Vice President of the Spanish Patient Organization for Ehlers-Danlos Syndromes and Hypermobility came together to address pressing questions submitted by vEDS patients across Europe.

Throughout the webinar, our experts addressed a wide range of topics related to vascular Ehlers-Danlos syndrome such as Pregnancy, Genetics, Dealing with vEDS, Medication and Research, and more.

Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study

Suppressa P, Maiorano E, Gaetani E, Matti E, Lenato GM, Serio I, Masala MS, Passali GC, Aguglia M, Crocione C, Lopalco PL, Caneschi F, Musella V, De Silvestri A, Gambini G, Spinozzi G, Sabbà C, Pagella F. Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study. Intern Emerg Med. 2023 Jun;18(4):1109-1118. doi: 10.1007/s11739-023-03287-8. Epub 2023 May 4. PMID: 37140873; PMCID: PMC10157588.

Authorship Guidelines

VASCERN Terms of Reference

Bakoumba (EN)

Multimodality imaging in thoracic aortic diseases: a clinical consensus statement from the European Association of Cardiovascular Imaging and the European Society of Cardiology working group on aorta and peripheral vascular diseases

This book is dedicated to children with Marfan syndrome and to all children who are different.

April 24 2023

Evangelista A, Sitges M, Jondeau G, Nijveldt R, Pepi M, Cuellar H, Pontone G, Bossone E, Groenink M, Dweck MR, Roos-Hesselink JW, Mazzolai L, van Kimmenade R, Aboyans V, Rodríguez-Palomares J. Multimodality imaging in thoracic aortic diseases: a clinical consensus statement from the European Association of Cardiovascular Imaging and the European Society of Cardiology working group on aorta and peripheral vascular diseases. Eur Heart J Cardiovasc Imaging. 2023 Apr 24;24(5):e65-e85. doi: 10.1093/ehjci/jead024. Erratum in: Eur Heart J Cardiovasc Imaging. 2023 Jul 24;24(8):e208. PMID: 36881779.

Europeiska Referensnätverk För Sällsynta Och Svåra Sjukdomar

Europeiska Referensnätverk Hjälper Patienter Med Sällsynta Eller Komplexa Sjukdomar

Europeiska Referensnätverk Hjälper Patienter Med Sällsynta Eller Komplexa Sjukdomar

Informationsvideo om ERN för patienter och vårdpersonal

ERN-videoklipp

Hur kan VASCERN hjälpa dig?

Eurooppalaiset Osaamisverkostot Harvinaisia, Esiintyvyydeltään Alhaisia Ja Monitekijäisiä Sairauksia Varten

Eurooppalaiset Osaamisverkostot Apua Harvinaisia Ja Vaikeitasairauksia Sairastaville

Eurooppalaiset Osaamisverkostot Apua Harvinaisia Ja Vaikeitasairauksia Sairastaville

Tájékoztató videó a betegek és az egészségügyi szakemberek számára az ERN-ről

ERN videoklip

Európske Referenčné Siete Pre Zriedkavé, Málo Rozšírené A Komplexné Choroby

Európske Referenčné Siete Pomoc Pacientom So Zriedkavými Lebo Komplexnými Chorobami

Európske Referenčné Siete Pomoc Pacientom So Zriedkavými Lebo Komplexnými Chorobami

Informativni videoposnetek za bolnike in zdravstvene delavce o ERN

Videoklip ERN

Ako vám VASCERN môže pomôcť?

Evropske Referenčne Mreže Za Redke Bolezni, Bolezni Z Nizko Stopnjo Prevalence In Kompleksne Bolezni

Evropske Referenčne Mreže Pomoč Pacientom Z Redkimi Ali Kompleksnimi Boleznimi

Evropske Referenčne Mreže Pomoč Pacientom Z Redkimi Ali Kompleksnimi Boleznimi

Informačné video pre pacientov a zdravotníckych pracovníkov o ERN

Videoklip ERN

Na kakšen način vam je VASCERN lahko v pomoč?

Rețele Europene De Referință Pentru Bolile Rare, Bolile Cu Prevalență Redusă Și Bolile Complexe

Rețelele Europene De Referință Ajutorarea Pacienților Care Suferă De Boli Rare Sau Complexe

Rețelele Europene De Referință Ajutorarea Pacienților Care Suferă De Boli Rare Sau Complexe

Videoclip de informare pentru pacienți și profesioniștii din domeniul sănătății cu privire la ERN-uri

Videoclipul ERN

Cum vă poate ajuta VASCERN?

Redes Europeias De Referência Para Doenças Raras, Complexas E De Baixa Prevalência

Redes Europeias De Referência Ajudar Os Doentes Com Doenças Raras Ou Complexas

Redes Europeias De Referência Ajudar Os Doentes Com Doenças Raras Ou Complexas

Vídeo informativo para doentes e profissionais de saúde sobre as ERNs

Videoclipe ERN

Como é que VASCERN o pode ajudar?

Film informacyjny dla pacjentów i pracowników służby zdrowia na temat ERN

Europeiske Referansenettverk For Sjeldne Sykdommer, Sykdommer Med Lav Prevalens Og Komplekse Tilstander

Hjelp Til Pasienter Med Sjeldne Eller Sammensatte Sykdommer

Hjelp Til Pasienter Med Sjeldne Eller Sammensatte Sykdommer

Magnitude and relevance of change in health-related quality of life in patients with vascular malformations treated with sirolimus

Informasjonsvideo om ERN for pasienter og helsepersonell

Harbers VEM, Bouwman FCM, van Rijnsoever IMP, Verhoeven BH, van der Vleuten CJM, Schultze Kool LJ, de Laat PCJ, van der Horst CMAM, Kievit W, Te Loo DMWM. Magnitude and relevance of change in health-related quality of life in patients with vascular malformations treated with sirolimus. Front Med (Lausanne). 2023 Apr 20;10:1155476. doi: 10.3389/fmed.2023.1155476. PMID: 37153086; PMCID: PMC10157393.

ERN-videoklipp

Hulp Bieden Aan Patiënten Met Zeldzame Of Complexe Aandoeningen

Hulp Bieden aan Patiënten Met Zeldzame Of Complexe Aandoeningen

Informatievideo voor patiënten en gezondheidswerkers over ERN’s

ERN videoclip

Hoe kan VASCERN u helpen?

Netwerks Ta’ Referenza Ewropej Għal Mard Rari, Ta’ Prevalenza Baxxa U Kkumplikat

Għajnuna Lill-Pazjenti B’mard Rari Jew Kumpless

Għajnuna Lill-Pazjenti B’mard Rari Jew Kumpless

Vidjow ta’ informazzjoni għall-pazjenti u l-professjonisti tal-kura tas-saħħa dwar l-ERNs

ERN videoclip

Eruopai Referenciahálózatok (Erh) A Ritka, Kis Prevalenciájú És Összetett Betegségek Számára

Európai Referenciahálózatok Alacsony Előfordulású Ritkavagy Összetett Betegségekben Szenvedő, Betegek Segítése

Európai Referenciahálózatok Alacsony Előfordulású Ritka Vagy Összetett Betegségekben Szenvedő, Betegek Segítése

Tájékoztató videó a betegek és az egészségügyi szakemberek számára az ERN-ről

ERN videoklip

Hogyan segíthet a VASCERN

Europos Referencijos Centrų Tinklai Retos, Mažai Paplitusios Ir Sudėtingos Ligos

Pagalba Retosiomis Arba Sudėtingomis Ligomis Sergantiems Pacientams

Pagalba Retosiomis Arba Sudėtingomis Ligomis Sergantiems Pacientams

Pacientams ir sveikatos priežiūros specialistams skirtas informacinis vaizdo įrašas apie ERN

ERN vaizdo klipas

Kaip „VASCERN“ gali padėti?

Retu, Maz Izplatītu Un Sarežģītu Slimību Jomā

Palīdzība Pacientiem Ar Retām Vai Kompleksām Slimībām

Palīdzība Pacientiem Ar Retām Vai Kompleksām Slimībām

Informatīvs video pacientiem un veselības aprūpes speciālistiem par ERN

ERN videoklips

Kā VASCERN var Jums palīdzēt?

Za Rijetke Bolesti, Bolesti S Niskim Stupnjem Raširenosti I Složene Bolesti

Pomoć Pacijentima S Rijetkim Ili Kompleksnim Bolestima S Niskim Stupnjem Raširenosti

Pomoć Pacijentima S Rijetkim Ili Kompleksnim Bolestima S Niskim Stupnjem Raširenosti

Informativni video za pacijente i zdravstvene djelatnike o ERN-ovima

ERN video zapis

Kako vam VASCERN može pomoći?

Για Σπανια Νοσηματα, Πολυπλοκεσ Νοσουσ Και Παθησεισ Χαμηλου Επιπολασμου

Στηριξη Των Ασθενων Με Σπανιεσ Ή Πολυπλοκεσ Νοσουσ

Βιντεοκλίπ της ERN

Ενημερωτικό βίντεο για ασθενείς και επαγγελματίες υγείας σχετικά με τα ERN

Abi Harvik- Või Komplekshaigusega Patsiendile

Abi Harvik- Või Komplekshaigusega Patsiendile

ERNi videoklipp

Infovideo patsientidele ja tervishoiutöötajatele ERNide kohta

For Sjældne Sygdomme, Sygdomme Med Lav Prævalens Og Komplekse Sygdomme

Hjælp Til Patienter Med Sjældne Eller Komplekse Sygdomme

Informationsvideo til patienter og sundhedspersonale om ERN’er

ERN-videoklip

Pro Vzácná, Málo Rozšířená A Komplexní Onemocnění

Pomoc Pacientům Se Vzácným Nebo Málo Rozšířeným Komplexním Onemocněním

Informační video pro pacienty a zdravotníky o ERN

Videoklip ERN

Jak Vám může VASCERN pomoci?

Treatment of lymphatic malformations

Klippel-Trenaunay syndrome (KTS)

This PoK video (produced by the patient organisation HEVAS and revised and validated by the VASCA-WG) presents the various treatment options for lymphatic malformations. It is intended for patients and the general public and uses simple language to explain the various medical terms and procedures discussed.

Video in English. Subtitles are currently available in 7 European languages (English, Dutch, French, German, Italian, Spanish and Swedish).

The PIK3CA gene and related vascular malformations

This PoK video, produced by the patient organisation HEVAS and validated by the VASCA-WG, gives an introduction to Klippel-Trenaunay syndrome (KTS), a congenital vascular bone syndrome. It is intended for patients and the general public and uses simple language to explain the clinical characteristics of this rare disease.

Video in English. Subtitles are currently available in 7 European languages (English, Dutch, French, German, Italian, Spanish and Swedish).

Genetische tests voor primair lymfoedeem – het perspectief van een moeder

This short PoK video explains how an error in the PIK3CA gene can be the cause of congenital vascular malformations, such as lymphatic and venous malformations, which can be isolated or occur in overgrowth syndromes. Diagnosis and treatment are also briefly covered.

It is intended for patients and the general public and uses simple language to introduce PIK3CA related vascular abnormalities, which includes the complex group of disorders known as PROS (PIK3CA-Related Overgrowth Spectrum).

Created by the patient organisation HEVAS (the Dutch Patient organisation for hemangioma and vascular malformations), this PoK was then revised and validated by VASCERN’s Vascular Anomalies Working Group (VASCA-WG).

Video in English with subtitles in English.

Lymfoedeem vanuit het perspectief van een tiener

Il linfedema dal punto di vista di un adolescente

Le lymphœdème du point de vue de l’adolescent

Tests génétiques pour le lymphœdème primaire – le point de vue d’une mère

El linfedema desde la perspectiva de una adolescente

Lymfødem fra et barns perspektiv

Genetisk testning for primær lymfødem – en mors perspektiv

Lymfødem fra en teenagers perspektiv

Vad är en akut aortadissektion? by Prof. Artur Evangelista

Vad är kronisk aortadissektion? by Prof. Artur Evangelista

Hur övervakas aortan? by Dr. Gisela Teixido-Tura

Vad är aortikarotbyte och när är det lämpligt? by Prof. Zoltan Szabolcs and Dr. Kalman Benke

Vad man bör veta före och under graviditeten vid HTAD by Prof. Jolien Roos-Hesselink and Dr. Yaso Emmanuel

Sju tecken på Marfans syndrom by Prof. Yskert von Kodolitsch

A Marfan-szindróma hét jele by Prof. Yskert von Kodolitsch

A betegjogi képviselők szerepe egy európai referenciahálózatban

Mi az örökletes mellkasi aorta betegség (HTAD)? by Prof. Julie De Backer

Sport és Marfan-szindróma by Prof. Guillaume Jondeau

Heti 3 – a testmozgás fontossága a Marfan- és a kapcsolódó örökletes mellkasi aorta betegségekben (HTAD) by Prof. Guillaume Jondeau and Lise Murphy

Marfan-szindróma – Diagnózis By Prof. Julie De Backer

Comment l’aorte est-elle surveillée ? By Dr. Gisela Teixido-Tura

Qu’est-ce que le remplacement de la racine aortique et quand est-il indiqué ? By Professor Zoltan Szabolcs and Dr. Kalman Benke

Genetic Counseling in Heritable Thoracic Aortic Diseases By Liesbeth Wildero – Van Wouwe

Wat is erfelijke thoracale aortaziekte (HTAD)? Prof. Julie De Backer

This PoK video gives an overview of genetic counseling in HTAD. Heritable Thoracic Aortic Disease is first briefly explained, followed by the how, why and where of genetic testing. Genetic counseling and its limitations are then explained in detail.

Moyamoya Angiopathy Do’s and Don’ts Factsheet

CADASIL Do’s and Don’ts Factsheet

Pregnancy and Thoracic Aortic Disease: Managing the Risks

2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy

Wanga S, Silversides C, Dore A, de Waard V, Mulder B. Pregnancy and Thoracic Aortic Disease: Managing the Risks. Can J Cardiol. 2016 Jan;32(1):78-85. doi: 10.1016/j.cjca.2015.09.003. Epub 2015 Sep 18. PMID: 26604124.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Regitz-Zagrosek V, Roos-Hesselink JW, Bauersachs J, Blomström-Lundqvist C, Cífková R, De Bonis M, Iung B, Johnson MR, Kintscher U, Kranke P, Lang IM, Morais J, Pieper PG, Presbitero P, Price S, Rosano GMC, Seeland U, Simoncini T, Swan L, Warnes CA; ESC Scientific Document Group. 2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy. Eur Heart J. 2018 Sep 7;39(34):3165-3241. doi: 10.1093/eurheartj/ehy340. PMID: 30165544.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089. PMID: 30071989; PMCID: PMC6378369.

The revised Ghent nosology for the Marfan syndrome

Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. Eur J Hum Genet. 2016 Jan;24(1):e1-5. doi: 10.1038/ejhg.2015.225. Epub 2015 Oct 28. PMID: 26508578; PMCID: PMC4795237.

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885.

Echocardiography in aortic diseases: EAE recommendations for clinical practice

Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, Kouchoukos NT, Lytle BW, Milewicz DM, Reich DL, Sen S, Shinn JA, Svensson LG, Williams DM; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010 Apr 6;121(13):e266-369. doi: 10.1161/CIR.0b013e3181d4739e. Epub 2010 Mar 16. Erratum in: Circulation. 2010 Jul 27;122(4):e410. PMID: 20233780.

Thoracic Endovascular Aortic Repair (TEVAR) for the treatment of aortic diseases: a position statement from the European Association for Cardio-Thoracic Surgery (EACTS) and the European Society of Cardiology (ESC), in collaboration with the European Association of Percutaneous Cardiovascular Interventions (EAPCI)

Evangelista A, Flachskampf FA, Erbel R, Antonini-Canterin F, Vlachopoulos C, Rocchi G, Sicari R, Nihoyannopoulos P, Zamorano J; European Association of Echocardiography; Document Reviewers:; Pepi M, Breithardt OA, Plonska-Gosciniak E. Echocardiography in aortic diseases: EAE recommendations for clinical practice. Eur J Echocardiogr. 2010 Sep;11(8):645-58. doi: 10.1093/ejechocard/jeq056. Erratum in: Eur J Echocardiogr. 2011 Aug;12(8):642. PMID: 20823280.

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology

Grabenwöger M, Alfonso F, Bachet J, Bonser R, Czerny M, Eggebrecht H, Evangelista A, Fattori R, Jakob H, Lönn L, Nienaber CA, Rocchi G, Rousseau H, Thompson M, Weigang E, Erbel R. Thoracic Endovascular Aortic Repair (TEVAR) for the treatment of aortic diseases: a position statement from the European Association for Cardio-Thoracic Surgery (EACTS) and the European Society of Cardiology (ESC), in collaboration with the European Association of Percutaneous Cardiovascular Interventions (EAPCI). Eur Heart J. 2012 Jul;33(13):1558-63. doi: 10.1093/eurheartj/ehs074. Epub 2012 May 4. PMID: 22561257.

Multimodality imaging of diseases of the thoracic aorta in adults: from the American Society of Echocardiography and the European Association of Cardiovascular Imaging: endorsed by the Society of Cardiovascular Computed Tomography and Society for Cardiovascular Magnetic Resonance

Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014 Nov 1;35(41):2873-926. doi: 10.1093/eurheartj/ehu281. Epub 2014 Aug 29. Erratum in: Eur Heart J. 2015 Nov 1;36(41):2779. PMID: 25173340.

2017 ESC/EACTS Guidelines for the management of valvular heart disease

Goldstein SA, Evangelista A, Abbara S, Arai A, Asch FM, Badano LP, Bolen MA, Connolly HM, Cuéllar-Calàbria H, Czerny M, Devereux RB, Erbel RA, Fattori R, Isselbacher EM, Lindsay JM, McCulloch M, Michelena HI, Nienaber CA, Oh JK, Pepi M, Taylor AJ, Weinsaft JW, Zamorano JL, Dietz H, Eagle K, Elefteriades J, Jondeau G, Rousseau H, Schepens M. J Am Soc Echocardiogr. 2015 Feb;28(2):119-82. doi: 10.1016/j.echo.2014.11.015. PMID: 25623219.

Management of Descending Thoracic Aorta Diseases: Clinical Practice Guidelines of the European Society for Vascular Surgery (ESVS)

Baumgartner H, Falk V, Bax JJ, De Bonis M, Hamm C, Holm PJ, Iung B, Lancellotti P, Lansac E, Rodriguez Muñoz D, Rosenhek R, Sjögren J, Tornos Mas P, Vahanian A, Walther T, Wendler O, Windecker S, Zamorano JL; ESC Scientific Document Group.Eur Heart J. 2017 Sep 21;38(36):2739-2791. doi: 10.1093/eurheartj/ehx391.PMID: 28886619

2020 ESC Guidelines for the management of adult congenital heart disease

Everything you wanted to know about Vascular Ehlers-Danlos Syndrome Part 1

Baumgartner H, De Backer J, Babu-Narayan SV, Budts W, Chessa M, Diller GP, Lung B, Kluin J, Lang IM, Meijboom F, Moons P, Mulder BJM, Oechslin E, Roos-Hesselink JW, Schwerzmann M, Sondergaard L, Zeppenfeld K; ESC Scientific Document Group.Eur Heart J. 2020 Aug 29:ehaa554. doi: 10.1093/eurheartj/ehaa554. Online ahead of print.PMID: 32860028

Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

Throughout the webinar, our experts addressed a wide range of topics related to vascular Ehlers-Danlos syndrome such as Pregnancy, Genetics, Dealing with vEDS, Medication, and more.

Consensus recommendations on lymphedema in Phelan-McDermid syndrome

Sénémaud J, Gaudry M, Jouve E, Blanchard A, Milleron O, Dulac Y, Olivier-Faivre L, Stephan D, Odent S, Lanéelle D, Dupuis-Girod S, Jondeau G, Bal-Theoleyre L. Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age. J Clin Med. 2023 Apr 17;12(8):2902. doi: 10.3390/jcm12082902. PMID: 37109238; PMCID: PMC10141376.

Genetisk testning för primärt lymfödem – en mammas perspektiv

Damstra RJ, Vignes S; European Phelan-McDermid syndrome consortium; Mansour S. Consensus recommendations on lymphedema in Phelan-McDermid syndrome. Eur J Med Genet. 2023 Jun;66(6):104767. doi: 10.1016/j.ejmg.2023.104767. Epub 2023 Apr 17. PMID: 37075886.

Lymfödem ur en tonårings perspektiv

Hudvård

Kompression för barn med lymfödem

Lymfödem – från ett barns perspektiv, Leonor

Klippel-Trénaunay syndrom, HEVAS

Behandling av lymfatiska missbildningar, HEVAS

Lymfsystemet och lymfatiska missbildningar, HEVAS

Klassifikation av kärlanomalier, Prof. Laurence Boon

Diagnostiskt tillvägagångssätt för vaskulära anomalier, Dr. Friedrich Kapp

Hantering av kärlanomalier, Dr. Kristiina Kyrklund

Tvärvetenskapliga expertgrupper för vaskulära anomalier (VASCA-WG piller av kunskap), Prof. Leo Schultze Kool

Marfans syndrom och relaterade sjukdomar (HTAD)

Vad är HTAD? Prof. Julie De Backer

Sport och Marfans syndrom, Prof. Guillaume Jondeau

3 i veckan – Betydelsen av motion vid Marfans syndrom och relaterade ärftliga aorta sjukdomar – Heritable Thoracic Aortic Diseases (HTAD), Prof. Guillaume Jondeau and Lise Murphy

Primaarisen lymfedeeman geneettinen testaus – äidin näkökulma

Lymfedeema alkaen teini näkökulmasta

Suonipoikkeavuuksien hoidot, Dr. Kristiina Kyrklund

Suonipoikkeavuuksien diagnostiikka, Dr. Friedrich Kapp

Moniammatilliset tiimit suonipoikkeavuuksien hoidossa, Prof. Leo Schultze Kool

Suonipoikkeavuuksien luokitus, Prof. Laurence Boon

Yleiskatsaus lasten ja aikuisten primääristä lymfödeemasta

ERISIPELA – Fluxograma para doentes com linfedema (PT)

Linfedema na perspectiva de adolescentes

Linfedema – na perspectiva de uma criança, Leonor

Genetisk testing for primært lymfødem – en mors perspektiv

Lymfødem fra en tenårings perspektiv

Klippel-Trénaunay-syndroom, HEVAS

Behandelingen voor lymfatische malformaties, HEVAS

Het lymfestelsel & lymfatische malformaties, HEVAS

Multidisciplinaire expertiseteams voor Vasculaire Anomalieën, Prof. Leo Schultze Kool

Behandelingen van vasculaire anomalieen, Dr. Kristiina Kyrklund

Diagnostische benaderingen voor vasculaire anomalieën, Dr. Friedrich Kapp

Classificatie van vaatafwijkingen, Prof. Laurence Boon

Wondroos schema voor lymfoedeem patiënten

Lymfoedeem – het perspectief van een kind, Leonor

Een overzicht van primair lymfoedeem bij kinderen en volwassenen

Compressie bij pediatrisch en primair lymfoedeem, Dr. Kirsten F. van Duinen

Onvervulde medische behoefte bij het vasculair Ehlers-Danlos syndroom (vEDS) – patiëntenperspectief, Juergen Grunert

Gastro-intestinale complicaties in vasculaire Ehlers-Danlos syndroom (vEDS), Dr. Salam Adham

Arteriële complicaties van het vasculaire Ehlers-Danlos syndroom (vEDS), Dr. Michael Frank

Do’s en Don’ts: Marfansyndroom en verwante aandoeningen

Wat is aortawortelvervanging en wanneer is dit aangewezen? Prof. Zoltan Szabolcs and Dr. Kalman Benke

Wat u vóór en tijdens de zwangerschap bij HTAD moet weten, Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel

Wat is een acute aortadissectie? Prof. Artur Evangelista

Wat is een chronische aortadissectie, Prof. Artur Evangelista

Hoe wordt de aorta gecontroleerd, Dr Gisela Teixido

Zeven tekenen van het Marfan-Syndrome, Prof Yskert Von Kodolitsch

De rol van patiëntenvertegenwoordigers in een Europees Referentienetwerk, van het patiëntenteam van de erfelijke aorta ziekten, Lise Murphy, Tony Pugliese, Elena Moya de Rubio, Françoise Steinbach

3 per week – Het belang van lichaamsbeweging in Marfan en aanverwante erfelijke aortaziektes, Prof. Guillaume Jondeau

Sport en het syndroom van Marfan, Prof. Guillaume Jondeau

Marfan syndroom – Diagnose, Prof. Julie De Backer

Hereditaire haemorrhagische teleangiectasieen van VASCERN HHT

Een overzicht van HHT, Prof. Claire Shovlin

Tennivalók és Tévedések: Marfanszindróma és hasonló rendellenességek

Mi az aortagyök csere és mikor indikált? Prof Zoltan Szabolcs and Dr. Kalman Benke

Mit kell tudni terhesség előtt és alatt a HTAD-ban , Prof. Jolien Roos-Hesselink and Dr. Yaso Emmanuel

Mi az akut aorta disszekció? Prof Artur Evangelista

Mi a krónikus aorta disszekció? Prof Artur Evangelista

Hogyan vizsgálják az aortát? Dr. Gisela Teixido

Tárgy: A betegek támogatói szerepe az Európai Referenciahálózatban, a VASCERN öröklődő mellkasi aorta betegségeinek betegcsoportjából, Lise Murphy (Marfanföreningen), Françoise Steinbach (AssoMarfan), Elena de Moya Rubio (Marfan Hilfe), Tony Pugliese (SIMA)

La maladie de Rendu-Osler par le groupe VASCERN HHT

April 12 2023

Qué hacer y qué no hacer: Linfoedema Pediátrico y Primario

April 12 2023

Τι είναι η αντικατάσταση της αορτικής ρίζας και πότε υποδεικνύεται; Prof Zoltan Szabolcs and Dr. Kalman Benke

Τι πρέπει να γνωρίζετε πριν και κατά τη διάρκεια της εγκυμοσύνης στο HTAD, Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel

Τι είναι ο οξύς αορτικός διαχωρισμός , Prof Artur Evangelista

Τι είναι ο χρόνιος διαχωρισμός της αορτής; Prof Artur Evangelista

Επτά σημεία του συνδρόμου Marfan, Prof Yskert Von Kodolitsch

Clinical phenotype of adolescent and adult patients with extracranial vascular malformation

Πώς παρακολουθείται η αορτή , Dr Gisela Teixido

Tuleja A, Bernhard S, Hamvas G, Andreoti TA, Rössler J, Boon L, Vikkula M, Kammer R, Haupt F, Döring Y, Baumgartner I. Clinical phenotype of adolescent and adult patients with extracranial vascular malformation. J Vasc Surg Venous Lymphat Disord. 2023 Sep;11(5):1034-1044.e3. doi: 10.1016/j.jvsv.2023.03.012. Epub 2023 Apr 6. PMID: 37030445.

Genetisk testning for primær lymfødem – en mors perspektiv

Rosen Flowchart til Patienter med Lymfødem

Lymfødem – fra et barns synspunkt, Leonor

Oversættelse af Vascern

En oversigt over HHT, Prof. Claire Shovlin

Лимфедемът от гледната точка на тийнейджърите

Лимфедемът от гледна точка на детето, Leonor 8 години

COVID-19 (Coronavirus) Richtlinien für die Gemeinschaft der Lymphgefäßkrankheiten

March 30 2023

The Pediatric and Primary Lymphedema (PPL) Working Group endorses the COVID-19 statement by the Lymphoedema Support Network

The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model

VASCERN Webinar: Diagnostic and Management Pathway for Venous Malformations

Damstra RJ, Halk AB; Dutch Working Group on Lymphedema. The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model. J Vasc Surg Venous Lymphat Disord. 2017 Sep;5(5):756-765. doi: 10.1016/j.jvsv.2017.04.012. Epub 2017 Jun 30. PMID: 28818234.

VASCERN Webinar: Diagnostic and Management Pathway for Severe and/or Rare Infantile Hemangiomas

This webinar consists of a scientific presentation followed by a Q&A session.

Featuring Vascular Anomalies Working Group (VASCA-WG) member: Prof. Laurence Boon.

Video in English.

VASCERN Webinar: Classification of vascular anomalies

This webinar consists of a scientific presentation followed by a Q&A session.

Featuring Vascular Anomalies Working Group (VASCA-WG) member: Prof Andrea Diociaiuti.

Video in English.

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

This webinar consists of a scientific presentation followed by a Q&A session.

Featuring Vascular Anomalies Working Group (VASCA-WG) members: Prof. Miikka Vikkula, Prof. Emir Haxhija and Dr. Paolo Gasparella.

Video in English.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. J Med Genet. 2020 Jan;57(1):48-52. doi: 10.1136/jmedgenet-2019-106024. Epub 2019 Jul 12. PMID: 31300548.

Development of an international core outcome set for peripheral vascular malformations: the OVAMA project

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. PMID: 28687708.

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Horbach SER, van der Horst CMAM, Blei F, van der Vleuten CJM, Frieden IJ, Richter GT, Tan ST, Muir T, Penington AJ, Boon LM, Spuls PI; OVAMA Consensus Group. Development of an international core outcome set for peripheral vascular malformations: the OVAMA project. Br J Dermatol. 2018 Feb;178(2):473-481. doi: 10.1111/bjd.16029. Epub 2018 Jan 19. PMID: 28986976.

VASCERN Suonipoikkeavuuksien (VASCA) työryhmä – Tietoa koronaviruksesta (COVID-19) potilaille, joilla on vaikea suonipoikkeavuus

Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. PMID: 27519652.

Information COVID-19 pour les patients porteurs d’ Anomalies Vasculaires et/ou Lymphatiques

Management of vascular anomalies in children

Prise en charge des anomalies vasculaires chez l’enfant

Elajmi A, Clapuyt P, Hammer F, Bataille AC, Lengele B, Boon LM. Prise en charge des anomalies vasculaires chez l’enfant [Management of vascular anomalies in children]. Ann Chir Plast Esthet. 2016 Oct;61(5):480-497. French. doi: 10.1016/j.anplas.2016.06.015. Epub 2016 Sep 15. PMID: 27641115.

Vascular Anomalies Guidelines by the Italian Society for the Study of Vascular Anomalies (SISAV)

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives

Stillo F, Mattassi R, Diociaiuti A, Neri I, Baraldini V, Dalmonte P, Amato B, Ametrano O, Amico G, Bianchini G, Campisi C, Cattaneo E, Causin F, Cavalli R, Colletti G, Corbeddu M, Coppo P, DE Fiores A, DI Giuseppe P, El Hachem M, Esposito F, Fulcheri E, Gandolfo C, Grussu F, Guglielmo A, Leuzzi M, Manunza F, Moneghini L, Monzani N, Nicodemi E, Occella C, Orso M, Pagella F, Paolantonio G, Pasetti F, Rollo M, Ruggiero F, Santecchia L, Spaccini L, Taurino M, Vaghi M, Vercellio G, Zama M, Zocca A, Aguglia M, Castronovo EL, DE Lorenzi E, Fontana E, Gusson E, Lanza J, Lizzio R, Mancardi MM, Rosina E. Guidelines for Vascular Anomalies by the Italian Society for the study of Vascular Anomalies (SISAV). Int Angiol. 2022 Apr;41(2 Suppl 1):1-130. doi: 10.23736/S0392-9590.22.04902-1. PMID: 35546136.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. PMID: 29452988.

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Benke K, Ágg B, Meienberg J, Kopps AM, Fattorini N, Stengl R, Daradics N, Pólos M, Bors A, Radovits T, Merkely B, De Backer J, Szabolcs Z, Mátyás G. Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era. J Thorac Dis. 2018 Apr;10(4):2456-2460. doi: 10.21037/jtd.2018.04.40. PMID: 29850152; PMCID: PMC5949468.

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3

Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. PMID: 30661052.

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. PMID: 29392890; PMCID: PMC5947146.

Pregnancy in Women With SMAD3 Mutation

Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. PMID: 27582083.

Arterial tortuosity syndrome: 40 new families and literature review

van Hagen IM, van der Linde D, van de Laar IM, Muiño Mosquera L, De Backer J, Roos-Hesselink JW. Pregnancy in Women With SMAD3 Mutation. J Am Coll Cardiol. 2017 Mar 14;69(10):1356-1358. doi: 10.1016/j.jacc.2016.12.029. PMID: 28279300.

European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;: PMID: 29323665.

The European rare disease network for HHT frameworks for management of Hereditary Haemorrhagic Telangiectasia in general and speciality care

Dupuis-Girod S, Shovlin CL, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Fargeton AE, Fialla AD, Gandolfi S, Hermann R, Lenato GM, Manfredi G, Post MC, Rennie C, Suppressa P, Sure U; ePag group; Buscarini E. European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)? Eur J Med Genet. 2022 Oct;65(10):104575. doi: 10.1016/j.ejmg.2022.104575. Epub 2022 Aug 5. PMID: 35940549.

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod S. The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care. Eur J Med Genet. 2022 Jan;65(1):104370. doi: 10.1016/j.ejmg.2021.104370. Epub 2021 Nov 1. PMID: 34737116.

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with Hereditary Haemorrhagic Telangiectasia (HHT)

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. PMID: 32894695.

Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia

Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364; PMCID: PMC7322871.

Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination

Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1. PMID: 31462308; PMCID: PMC6714298.

European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)

Shovlin C, Bamford K, Sabbà C, Mager HJ, Kjeldsen A, Droege F, Buscarini E, Dupuis-Girod S; VASCERN HHT. Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791. PMID: 30705116; PMCID: PMC6355489.

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia

Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S. European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT). Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2. PMID: 30111344; PMCID: PMC6094583.

The Lung in Hereditary Hemorrhagic Telangiectasia

Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL; VASCERN-HHT. Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Feb 4;14(1):28. doi: 10.1186/s13023-018-0982-4. PMID: 30717761; PMCID: PMC6360670.

Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts

Dupuis-Girod S, Cottin V, Shovlin CL. The Lung in Hereditary Hemorrhagic Telangiectasia. Respiration. 2017;94(4):315-330. doi: 10.1159/000479632. Epub 2017 Aug 30. PMID: 28850955.

Executive summary of the 12th HHT international scientific conference

Shovlin CL, Buscarini E, Hughes JMB, Allison DJ, Jackson JE. Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts. BMJ Open Respir Res. 2017 Oct 13;4(1):e000198. doi: 10.1136/bmjresp-2017-000198. PMID: 29071074; PMCID: PMC5652477.

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies

Andrejecsk JW, Hosman AE, Botella LM, Shovlin CL, Arthur HM, Dupuis-Girod S, Buscarini E, Hughes CCW, Lebrin F, Mummery CL, Post MC, Mager JJ. Executive summary of the 12th HHT international scientific conference. Angiogenesis. 2018 Feb;21(1):169-181. doi: 10.1007/s10456-017-9585-2. PMID: 29147802.

March 27 2023

Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations

March 23 2023

Dompmartin, A., Baselga, E., Boon, L. M., Diociaiuti, A., Dvorakova, V., El Hachem, M., Gasparella, P., Haxhija, E., Ghaffarpour, N., Kyrklund, K., Irvine, A. D., Kapp, F. G., Rößler, J., Salminen, P., van den Bosch, C., van der Vleuten, C., Schultze Kool, L., & Vikkula, M. (2023). The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations. Journal of vascular anomalies, 4(2), e064. https://doi.org/10.1097/JOVA.0000000000000064

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

Europejskie Sieci Referencyjne Na Wypadek Chorób Rzadkich I Skomplikowanych Schorzeń

Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N.Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review. PMID: 28306228

Europejskie Sieci Referencyjne Pomoc Pacjentom Cierpiącym Na Choroby Rzadkie Lub Złożone

Europejskie Sieci Referencyjne Pomoc Pacjentom Cierpiącym Na Choroby Rzadkie Lub Złożone

Informationsvideo für Patienten und medizinisches Fachpersonal über ERNs

ERN Videoclip

Jak sieć VASCERN może Państwu pomóc?

Hilfe Für Patienten Mit Seltenen Oder Komplexen Krankheiten

Hilfe Für Patienten Mit Seltenen Oder Komplexen Krankheiten

ERN-Videoclip

Das Klippel-Trénaunay Syndrom, HEVAS

Behandlung von lymphatischen Fehlbildung, HEVAS

Lymphsystem & lymphatische Fehlbildungen, HEVAS

Multidisziplinäre Expertenteams für Gefäßanomalien, Prof. Leo Schultze Kool

Management von Gefäßanomalien, Dr. Kristiina Kyrklund

Diagnostische Ansätze für Gefäßanomalien, Dr. Friedrich Kapp

Klassifizierung von Gefäßanomalien, Prof. Laurence Boon

Erysipel Flowchart für Patienten mit Lymphödemen

Hautpflege

Kompressionstherapie bei Kindern

Do’s und Don’ts: Primäres Lymphödem bei Kindern (PPL)

Lymphödeme aus einer Kinderperspektive, Leonor

Erysipel beim Kindlichen und Primären Lymphöde, Dr. Vaughan Keeley

Kompressiostherapie beim kindlichen und primärem Lymphödem, Dr. Kirsten F. van Duinen

Ein Überblick über das primäre Lymphödem bei Kindern und Erwachsenen

Unerfüllte medizinische Bedürfnisse beim vaskulären Ehlers-Danlos-Syndrom (vEDS) – Patientenperspektive, Juergen Grunert and Charissa Frank

Gastrointestinale Komplikationen beim vaskulären Ehlers-Danlos-Syndrom (vEDS), Dr. Salma Adham

Do’s und Don’ts: Marfan-Syndrom und verwandte Erkrankungen

Was Sie vor und während der Schwangerschaft in HTAD wissen sollten Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel

Was ist eine akute Aortendissektion? Prof. Artur Evangelista

Was ist eine chronische Aortendissektion? Prof. Artur Evangelista

Was ist ein Aortenwurzelersatz und wann ist er angezeigt? Prof Zoltan Szabolcs and Dr. Kalman Benke

Sieben Anzeichen eines Marfan-Syndroms, Prof. Yskert von Kodolitsch

Wie wird die Aorta überwacht, Dr. Gisela Teixido

Marfan-Syndrom – Diagnose, Prof. Julie De Backer

Hereditäre hämorrhagische Telangiektasie von VASCERN HHT

Ein Überblick über HHT, Prof. Claire Shovlin

Réseaux Européens De Référence Pour Les Maladies Rares, Les Maladies À Faible Prévalence Et Les Maladies Complexes

Réseaux Européens De Référence Aider Les Patients Souffrant De Maladies Rares Ou Complexes Et À Faible Prévalence

Réseaux Européens De Référence Aider Les Patients Souffrant De Maladies Rares Ou Complexes Et À Faible Prévalence

Vidéo d’information sur les ERN à l’intention des patients et des professionnels de la santé

Clip vidéo ERN

Comment VASCERN peut-il vous aider ?

Petit Pierre et la tâche mystérieuse

Le syndrome de Klippel-Trenaunay, HEVAS

Afin d’informer et d’aider parents, enfants, adolescents et adultes porteurs d’un angiome, les Cliniques Universitaires St-Luc de Bruxelles ont édité une brochure “Petit Pierre et la tâche mystérieuse”.

L’ouvrage est présenté sous forme de questions-réponses fréquemment posées.

VASCERN a le plaisir de vous partager sa version e-book

Le traitement des malformations lymphatiques, HEVAS

Le système lymphatique et les malformations lymphatiques, HEVAS

Les approches de diagnostique pour les anomalies vasculaires, Dr. Friedrich Kapp

L’expertise multi-disciplinaire pour les anomalies vasculaires, Prof. Leo Schultze Kool

Le management des anomalies vasculaires, Dr. Kristiina Kyrklund

La classification des anomalies vasculaires, Prof. Laurence Boon

Soins de la peau

Organigramme de l’érysipèle pour les patients atteints de lymphoedème

Le lymphoedème, du point de vue de l’enfant, Leonor 8 ans

L’érysipèle, principale et fréquente complication chez les personnes atteintes de lymphœdème, Dr. Vaughan Keeley

Aperçu du lymphœdème primaire chez les enfants et les adultes

Les besoins non satisfaits des patients atteints du syndrome d’Ehlers-Danlos vasculaire (SEDv), Juergen Grunert et Charissa Frank

Les complications gastro-intestinales dans le syndrome d’Ehlers-Danlos vasculaire (SEDv), Dr. Salma Adham

Complications artérielles du syndrome d’Ehlers-Danlos vasculaire (SEDv), Dr. Michael Frank

Le rôle des défenseurs des droits des patients dans un réseau européen de référence, de l’équipe de patients des maladies aortiques thoraciques héréditaires du VASCERN (Lise Murphy, Tony Pugliese, Elena Moya de Rubio, Françoise Steinbach)

Bakoumba (FR)

Ce qu’il faut savoir avant et pendant la grossesse avec HTAD, Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel

Bakoumba, un ouvrage dédié aux enfants atteints du syndrome de Marfan et à tous les enfants différents. Pour le consulter, contactez l’association Marfans via le lien ci-dessous qui vous donnera le code d’accès.

Sept signes du syndrome de Marfan, Prof. Yskert von Kodolitsch

3 exercices par semaine, l’importance du sport pour les patients Marfan, Prof. Guillaume Jondeau et Lise Murphy

Le sport et le syndrome de Marfan, Prof. Guillaume Jondeau

Qu’est-ce qu’une dissection aortique aiguë? By Professor Artur Evangelista

Le diagnostic du syndrome de Marfan, Prof. Julie De Backer

Qu’est-ce que le HTAD (heritable thoracic aortic disease), formes familiales de pathologies aortiques thoraciques Prof. Julie De Backer

Un panorama de la maladie Télangiectasie hémorragique héréditaire, ou de la maladie de Rendu-Osler, Prof. Claire Shovlin

Redes Europeas De Referencia De Enfermedades Raras, De Baja Prevalencia Y Complejas

REDES EUROPEAS DE REFERENCIA Ayuda a pacientes con enfermedades raras o complejas

Redes Europeas De Referencia Ayuda A Pacientes Con Enfermedades Raras O Complejas

Vídeo informativo para pacientes y profesionales sanitarios sobre los RER

Videoclip de la RER

¿Cómo puede ayudarle VASCERN?

El síndrome de Klippel-Trénaunay, HEVAS

Tratamiento de los linfangiomas, HEVAS

El sistema linfático y los linfangiomas, HEVAS

Equipos multidisciplinares de expertos en Anomalías Vasculares, Prof. Leo Schultze Kool

Manejo de Anomalías Vasculares, Dr. Kristiina Kyrklund

Enfoques Diagnósticos para Anomalías Vasculares, Dr. Friedrich Kapp

Clasificación de las anomalías vasculares, Prof. Laurence Boon

Linfedema- desde la perspectiva de un niño, Leonor

Qué hacer y qué no hacer : Síndrome de Marfan y enfermedades relacionadas (HTAD)

¿Qué es el reemplazo de la raíz aórtica y cuándo está indicado? Prof Zoltan Szabolcs and Dr. Kalman Benke,

Lo que debe saber antes y durante el embarazo en HTAD Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel,

¿Qué es una disección aórtica aguda? Prof Artur Evangelista

¿Qué es una disección aórtica crónica? Prof Artur Evangelista

Siete signos del sindrome de Marfan. Prof Yskert Von Kodolitsch

¿Cómo se controla la aorta? Dr Gisela Teixido

¿Qué son las HTAD? Prof. Julie De Backer

Deporte y síndrome de Marfan, Prof. Guillaume Jondeau

3 a la semana – La importancia del ejercicio en el Marfan y en las enfermedades hereditarias de la aorta torácica (HTAD), Prof. Guillaume Jondeau et Lise Murphy

Síndrome de Marfan – Diagnóstico, Prof. Julie De Backer

VASCERN HHT surge para ayudar a las personas con Telangiectasia Hemorrágica Hereditaria (HHT)

Una visión general de HHT, Prof. Claire Shovlin

Reti Di Riferimento Europee Per Le Malattie Rare, A Bassa Prevalenza E Complesse

Reti Di Riferimento Europee Aiutare I Pazienti Con Malattie Rare O Complesse E A Bassa Prevalenza

RETI DI RIFERIMENTO EUROPEE AIUTARE I PAZIENTI CON MALATTIE RARE O COMPLESSE E A BASSA PREVALENZA

Video informativo per i pazienti e gli operatori sanitari sulle ERN

Videoclip ERN

Come può aiutarti VASCERN?

La sindrome di Klippel-Trénaunay, HEVAS

Trattamento delle malformazioni linfatiche, HEVAS

Il sistema linfatico e le malformazioni linfatiche, HEVAS

Team di esperti multidisciplinari per le anomalie vascolari (VASCA- WG Pillole di conoscenza), Prof. Leo Schultze Kool

Gestione delle anomalie vascolari, Dr. Kristiina Kyrklund

Approcci diagnostici per le anomalie vascolari, Dr. Friedrich Kapp

Classificazione delle anomalie vascolari, Prof. Laurence Boon

Scheda informativa sulla cura della pelle

Cellulitis Flowchart: L’erisipela nei pazienti con linfedema: diagramma di flusso (IT)

Il linfedema – dalla prospettiva di una bambina, Leonor

Percoso Del Paziente: Ehlers-Danlos vascolare (vEDS) (MSA)

Esigenze mediche non soddisfatte nella sindrome vascolare di Ehlers-Danlos (vEDS) – prospettiva dei pazienti, Juergen Grunert e Charissa Frank

Complicanze gastrointestinali nella sindrome vascolare di Ehlers-Danlos (vEDS), Dr. Salma Adham

Complicanze arteriose della sindrome vascolare di Ehlers-Danlos (vEDS), Dr. Michael Frank

Fare e non fare: Sindrome di Marfan e disturbi (HTAD)

I sette segni della sindrome di Marfan Pr Yskert von Kodolitsch,

Cos’è la sostituzione della radice aortica e quando è indicata? Prof Zoltan Szabolcs and Dr. Kalman Benke

Come viene monitorata l’aorta? Dr. Gisela Teixido-Tura

Cosa è una dissezione aortica cronica? Prof Artur Evangelista

Cosa è una dissezione aortica acuta? Prof Artur Evangelista

Cosa sapere prima e durante la gravidanza degli aneurismi e dissecazioni ereditarie dell’aorta toracica (HTAD) Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel

Cos’è HTAD? Prof. Julie De Backer

Sport e sindrome di Marfan, Prof. Guillaume Jondeau

3 a settimana – L’importanza dell’esercizio fisico per i pazienti con Sindrome di Marfan e malattie toraciche aortiche ereditarie (HTAD), Prof. Guillaume Jondeau

Sindrome di Marfan – Diagnosi, Prof. Julie De Backer

HHT from VASCERN HHT

Una panoramica di HHT, Prof. Claire Shovlin

Vascular Ehlers Danlos Syndrome Do’s and Don’ts Factsheets

Consensus statement for the screening and management of patients with pathogenic ACTA2 variants (November 21, 2019)

All Factsheets in one document

Consensus statement of the VASCERN HTAD Working Group (January 23, 2019)

March 20 2023

In patients with HTAD, Fluoroquinolones should be used with caution because of a possible risk for exacerbation of aortic disease. The use of alternatives is preferred while awaiting further evidence.

Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies

Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer. European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. Orphanet J Rare Dis 14,264 (2019) doi:10.1186/s13023-019-1186-2

March 14 2023

Giuliani L, Di Toro A, Urtis M, Narula N, Grasso M, Pelenghi S, Belliato M, Bozzani A, Arici V, Pellegrini C, Serio A, Pilotto A, Fergnani V, Antoniazzi E, Magrassi L, Dore R, Valentini A, Preda L, Calliada F, Quaretti P, Pirrelli S, Kodama T, Vricella L, Cameron D, Arbustini E. Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies. J Am Coll Cardiol. 2023 Mar 14;81(10):979-991. doi: 10.1016/j.jacc.2023.01.005. PMID: 36889877.

Endoscopic exams

March 13 2023

Aortic dissection in HHT

March 13 2023

Bronchoscopies

March 13 2023

Care for patient with multiple traumatic injuries

Outcome after surgical treatment of venous malformations of the hand in childhood

March 10 2023

Gasparella P, Flucher C, Beqo BP, Schmidt B, Spendel S, Arneitz C, Till H, Haxhija EQ, Singer G. Outcome after surgical treatment of venous malformations of the hand in childhood. J Vasc Surg Venous Lymphat Disord. 2023 Jul;11(4):793-800. doi: 10.1016/j.jvsv.2023.02.004. Epub 2023 Mar 10. PMID: 36906103.

Cellulitis Flowchart for Patients with Lymphedema (issue date 01/2022)

Skin Care Factsheet for Patients (issue date: 21/06/2021)

Care for patient with traumatic injuries

Anesthesia

Operative intervention lymphedematous limb

Medication and lymphedema

Pediatric & Primary Lymphedema Do’s and Don’ts on Pregnancy

Pediatric and Primary Lymphedema Do’s and Don’ts

Pediatric and Primary Lymphedema working group – SARS-CoV-2 vaccination consensus statement

All Pediatric and Primary Lymphedema (PPL) Factsheets in one document

COVID-19 statement by the Lymphoedema Support Network

PNDS (French National Protocol for care in Rare Disease) for PPL

The Pediatric and Primary Lymphedema (PPL) Working Group endorses the COVID-19 statement by the Lymphoedema Support Network.

Classification and Diagnostic Algorithm for Primary Lymphatic Dysplasia

St. George’s Paediatric Investigation Tool for patients with primary lymphoedema

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

CLSIG Childhood Lymphoedema Diagnostic and Assessment pathways

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

Charter of Care for Children and Young People with Lymphoedema

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

Report of German Guidelines with all the collaborating members from Germany, Austria and Switzerland

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

German Guidelines: Diagnostics and therapy of lymphedema

German guidline “Diagnostis and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, May 2017

Report of German Guidelines with all the collaborating members from Germany, Austria and Switzerland

S2k Leitlinie – Diagnostik und Therapie der Lymphödeme

German guideline “Diagnostics and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, May 2017

The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model

The German guidelines are published here (organised by by 32 different groups in Germany, Austria and Switzerland).

Lymphedema from a teenager’s perspective

Damstra RJ, Halk A-B. The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model, Journal of Vascular Surgery, 5 (2017) 756-765. doi:10.1016/j.jvsv.2017.04.012 (contains condensed summary from Dutch 2015 Lymphedema Guidelines)

Lymphedema from a child’s perspective

This video is validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG).

In this Pill of Knowledge (PoK), two teenagers, Laura and Sven, ask each other basic questions about living with lymphedema.

Video in Italian. Subtitles available in English, Danish, Dutch, Finnish, French, German, Italian, Norwegian, Portuguese, Spanish and Swedish.

The lymphatic system & lymphatic malformations

Created by andLINFA (The National Association of Sufferers of Lymphatic Disorders – Portugal) and validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG).

In this Pill of Knowledge (PoK), Leonor, a Portuguese girl with lymphedema gives her testimonial of what it is like to live with this rare disease. It is suitable for both children and adults and a great resource for raising awareness of PPL.

Video is in Portuguese but subtitles are available in 9 European languages (Portuguese, English, Danish, Swedish, Dutch, Italian, Spanish, German and French).

Treatments for lymphatic malformations (Behandelingen voor lymfatische malformaties)

This PoK video (produced by the patient organisation HEVAS and revised and validated by the VASCA-WG) gives an introduction on the lymphatic system and lymphatic malformations. It is intended for patients and the general public and uses simple language to explain the various medical terms discussed.

Video in English. Subtitles are currently available in 7 European languages (English, Dutch, French, German, Italian, Spanish and Swedish).

The lymphatic system & lymphatic malformations (Lymfestelsel en lymfatische malformaties)

This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, describes the treatments currently available for lymphatic malformations in a clear and understandable manner suited for patients.

View this video here

Management of Vascular Anomalies

This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, talks about the lymphatic system and lymphatic malformations. This video has been made for patients and introduces the patient organisation HEVAS and their work.

View this video here

Multi-disciplinary Expertise Teams for Vascular Anomalies

Created by Dr. Kristiina Kyrklund (Pediatric Surgeon, Helsinki University Hospital, Helsinki, Finland)

In this Pill of Knowledge (PoK) Dr. Kristiina Kyrklund gives an introduction on the individualized management of vascular anomalies and how the chosen treatment is based on the characteristic symptoms and location of the anomaly. Suitable for both healthcare professsionals and patients.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish).

Diagnostic Approaches for Vascular Anomalies

Created by Prof. Leo Schultze Kool (Interventional Radiologist, Radboud University Medical Center, Nijmegen, Netherlands).

This Pill of knowledge (PoK) gives a brief summary of why multi-disciplinary expert teams are so necessary for the management and treatment of vascular anomalies. It is intended for the general public.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish)

Classification of Vascular Anomalies

Created by Dr. Friedrich Kapp (Physician Scientist, University Medical Center, Freiburg, Germany).

This Pill of Knowledge (PoK) talks about the diagnostic approaches for vascular anomalies. The various types of examination and tests involved in reaching an appropriate diagnosis are described. This PoK is a valuable tool for healthcare professionals and patients wanting to learn more about how vascular anomalies are diagnosed.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish).

Pregnancy delivery and postpartum care in vEDS – Breastfeeding

Created by Prof. Laurence Boon (Plastic Surgeon, Coordinator of the Center for Vascular Anomalies, Cliniques Universitaires St Luc, Brussels, Belgium).

This Pill of Knowledge (PoK) gives a brief overview of the classification of vascular anomalies. It is intended for the medical community who is not familiar with these anomalies as it introduces the main types of vascular anomalies and their characteristics.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish).

Pregnancy delivery and postpartum care in vEDS-Delivery

Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems

Treatment of vascular Ehlers-Danlos syndrome: a systematic review

Chetty SP, Shaffer BL, Norton ME. Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems.Obstet Gynecol Surv. 2011 Nov;66(11):699-709. Review

Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests

Bergqvist D, Björck M, Wanhainen A. Treatment of vascular Ehlers-Danlos syndrome: a systematic review. Ann Surg. 2013 Aug;258(2):257-61. doi: 10.1097/SLA.0b013e31829c7a59. Review

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease

Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015 Jan;100(1):57-61

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

Boodhwani M, Andelfinger G, Leipsic J, Lindsay T, McMurtry MS, Therrien J, Siu SC; Canadian Cardiovascular Society. Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. Can J Cardiol. 2014 Jun;30(6):577-89.

Abdominal emergencies in type IV ehlers-Danlos syndrome

Wiesmann T, Castori M, Malfait F, Wulf H. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet J Rare Dis. 2014 Jul 23;9:109. doi: 10.1186/s13023-014-0109-5. Review

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

Benchellal ZA, Huten N, Danquechin Dorval E, Podeur L, Rahili A, Lemeret S, De Muret A. Abdominal emergencies in type IV ehlers-Danlos syndrome. Gastroenterol Clin Biol. 1998 Mar;22(3):343-5. French

The Ehlers-Danlos syndromes

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review. PMID: 28306228

VASCERN & ReCONNET Webinar: Cardiovascular aspects of EDS by Leema Robert and Fransiska Malfait

Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers-Danlos syndromes. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924.

VASCERN Webinar: Pregnancy and PGD in Vascular Ehlers Danlos Syndrome

VASCERN Webinar: On collagen, Ehlers-Danlos Syndromes and vascular fragility: what’s in a name?

This webinar consists of a scientific presentation followed by a Q&A session.

Involving Dr. Michael Frank, Chair of our Medium-Sized Arteries Working Group.

Video in English.

Vascular Ehlers-Danlos syndrome: Introduction and new criteria

This webinar consists of a scientific presentation followed by a Q&A session.

Involving Dr. Fransiska Malfait, Co-Chair of our Medium-Sized Arteries Working Group.

Video in English.

Structure of the Medium-Sized Arteries Working Group (MSA WG) in VASCERN

This video presented by Dr. Fransiska Malfait, clinical geneticist, Center of Medical Genetics, Ghent University Hospital, Ghent, Belgium gives an introduction to vascular Ehlers-Danlos syndrome (vEDS) and presents the major and minor clinical criteria for vEDS from the 2017 International Classification for all types of Ehlers-Danlos syndromes published in the American Journal of Human Genetics. The Villefranche Nosology is also mentioned.

VASCERN Webinar: Genetics and Primary Lymphedema

Dr. Leema Robert, consultant clinical geneticist, Guys and St. Thomas Hospital , London, UK presents the goals, actions and structure of VASCERN as well as the accomplished and ongoing work of the MSA WG, that currently covers vascular Ehlers-Danlos syndrome.

February 28 2023

This video is a question and answer session between Carina Mainka, ePAG patient advocate and mother of a child with primary lymphedema, and Prof. Sahar Mansour, Consultant in Clinical Genetics from St George’s University NHS Hospital on genetics in primary lymphedema.

Prof. Mansour explains how genetics can affect primary lymphedema and the importance of genetic testing for patients and families with questions from Carina.

Clinical differences in sirolimus treatment with low target levels between children and adults with vascular malformations – A nationwide trial

February 23 2023

Harbers VEM, Zwerink LGJM, Rongen GA, Klein WM, van der Vleuten CJM, van Rijnsoever IMP, Gerdsen-Drury L, Flucke UE, Verhoeven BH, de Laat PCJ, van der Horst CMAM, Schultze Kool LJ, Te Loo DMWM. Clinical differences in sirolimus treatment with low target levels between children and adults with vascular malformations – A nationwide trial. Clin Transl Sci. 2023 May;16(5):781-796. doi: 10.1111/cts.13488. Epub 2023 Feb 23. PMID: 36824030; PMCID: PMC10176016.

VASCERN Webinar: HHT and Nosebleeds

VASCERN Webinar: HHT and the lungs

This webinar consists of a informative presentation followed by an interactive Q&A session. Involving clinicians and patient advocates from our Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG): Prof Anette Kjeldsen, Prof Urban Geisthoff, Dr Freya Droege, Dr Ruben Hermann, Christina Grabowski.

Video in English.

Hereditary Haemorrhagic Telangiectasia (HHT) is more than a bleeding Nose. What an ENT doctor needs to know about HHT and why

This webinar consists of a informative presentation followed by an interactive Q&A session. Involving clinicians and patient advocates from our Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG): Dr. Hans-Jurgen Mager, Prof. Marco Post, Claudia Crocione, Christina Grabowski and Ria Blom.

Video in English.

An Overview of Hereditary Haemorrhagic Telangiectasia

Hereditary Haemorrhagic Telangiectasia (HHT) is more than a bleeding Nose. What an ENT doctor needs to know about HHT and why is made by Prof Anette Kjeldsen (HHT-WG Member, from the HHT Centre at Odense University Hospital, Denmark) and is intended for Ear, Nose & Throat (ENT) Doctors in order to help them properly recognize the signs and symptoms of HHT. As ENT doctors are often the first healthcare professionals that HHT patients consult, it is essential for them to be able to identify a potential HHT patient and refer these patients to an HHT expert Centre for screening and treatment in order to decrease patient morbidity.

Video in English.

Hereditary Haemorrhagic Telangiectasia (HHT) from VASCERN HHT-WG

An Overview of Hereditary Haemorrhagic Telangiectasia features an informative presentation by Prof Claire Shovlin (Chair of the HHT WG from Hammersmith Hospital – Imperial College Healthcare NHS Trust, UK). This PoK is accessible to everyone and gives viewers an introduction to HHT by explaining its main clinical features (and their frequency) in addition to the genetics and aetiology of this rare disease.

Video in English. Subtitles available in 7 languages (English, Dutch, Danish, French, Italian, German and Spanish).

Manifestations respiratoires des syndromes d’Ehlers-Danlos

This video introduces HHT, the HHT-WG and their expertise in this rare vascular disease. This is a welcoming first entry for people learning about HHT for the first time. Common problems of HHT are presented. The video also presents the data derived over more than 30 years by HCP Leads within VASCERN HHT that indicates life expectancy in HHT is remarkably good, provided that patients are properly screened and receive the benefits of modern medicine. This video is mainly directed at HHT patients but is also of interest to the medical community and the general public wishing to learn more about HHT and the HHT-WG in VASCERN. Video in English. Subtitles available in 7 languages (English, Dutch, Danish, French, Italian, German and Spanish).

February 04 2023

Benattia A, Benistan K, Frank M, Boussouar S. Manifestations respiratoires des syndromes d’Ehlers-Danlos [Respiratory manifestations of Ehlers-Danlos syndromes]. Rev Mal Respir. 2023 Mar;40(3):254-264. French. doi: 10.1016/j.rmr.2023.01.009. Epub 2023 Feb 4. PMID: 36740495.

European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)

February 02 2023

Bersano A, Khan N, Fuentes B, Acerbi F, Canavero I, Tournier-Lasserve E, Vajcoczy P, Zedde ML, Hussain S, Lémeret S, Kraemer M, Herve D. European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy Endorsed by Vascular European Reference Network (VASCERN). Eur Stroke J. 2023 Mar;8(1):55-84. doi: 10.1177/23969873221144089. Epub 2023 Feb 2. PMID: 37021176; PMCID: PMC10069176.

Complex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines

January 27 2023

Andreoti TA, Berg S, Holm A, Angerer M, Oberlin M, Foeldi E, Baumgartner I, Niemeyer CM, Rössler J, Kapp FG. Complex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines. Lymphat Res Biol. 2023 Jun;21(3):230-243. doi: 10.1089/lrb.2022.0041. Epub 2023 Jan 27. PMID: 36706428.

Declaración de VASCERN HTAD sobre Covid 19

Stqarrija mill-VASCERN HTAD WG dwar il-COVID-19

VASCERN Erklärung zu Covid 19

Déclaration du groupe de travail VASCERN sur les maladies aortiques thoraciques héréditaires (HTAD) sur COVID-19

VASCERN HTAD verklaring over Covid 19

VASCERN Heritable Thoracic Aortic Diseases (HTAD) Working Group statement on COVID-19 (March 2020)

Overview of animal studies in vEDS

Organisations of services in UK

Presented by Fransiska Malfait, Clinical Geneticist, Center of Medical Genetics, Ghent University Hospital, Ghent, Belgium.

This video gives an overview of the animal (mouse) models and pre-clinical studies that have been published for vascular Ehlers-Danlos syndrome and their findings.

Medium sized artery disease in TGF-beta vasculopathies or syndromic aortopathies

Presented by Dr. Leema Robert, Consultant Clinical Geneticist, Guys and St. Thomas Hospital, London, UK.

Dr. Leema Robert, gives an overview of the vEDS services in the UK and how they are organized. The two genetic services providing pediatric and adult expertise in vEDS in London are presented.

Arterial fragility in other types of Ehlers Danlos Syndrome: Part 3 – Other rarer types of Ehler-Danlos Syndrome (EDS)

Presented by Prof Bart Loeys, Clinical Geneticist, Center for Medical Genetics, Antwerp University Hospital, Antwerp, Belgium.

In this video, the various types of TGF-beta vasculopathies or syndromic aortopathies causing medium-sized artery disease are discussed including, among others, Loeys-Dietz syndrome (LDS), Shprintzen-Goldberg syndrome, and arterial tortuosity syndrome. The genes of LDS and the genes of other syndromic aortopathies are examined in regards to their association with arterial involvement.

Arterial fragility in other types of Ehlers Danlos Syndrome: Part 2 – Kyphoscoliotic Ehlers-Danlos Syndrome (EDS)

Presented by Dr. Neeti Ghali, Consultant Clinical Geneticist and Cooperating Guest from the EDS National Diagnostic Services in London, UK.

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 3 of 3, which examines periodontal EDS as well as the need for constant revision of gene variant calling in order to reclassify patients’ previous variants of uncertain significance (VUS) to likely pathogenic or pathogenic variants as more cases are discovered and fulfill the criteria for classical EDS.

Arterial fragility in other types of Ehlers Danlos Syndrome: Part 1 – Introduction, Classical Ehlers-Danlos Syndrome (EDS)

Presented by Dr. Neeti Ghali, Consultant Clinical Geneticist and Cooperating Guest from the EDS National Diagnostic Services in London, UK.

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 2 of 3, which examines the clinical and genetic features of kyphoscoliotic EDS, which shows phenotypic overlap with both classical and vascular EDS.

What is an acute aortic dissection? By Professor Artur Evangelista

Presented by Dr. Neeti Ghali, Consultant Clinical Geneticist and Cooperating Guest from the EDS National Diagnostic Services in London, UK.

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 1 of 3, which examines the clinical and genetic features of classical EDS, including its association with arterial complications in some cases.

Pregnancy in vascular Ehlers-Danlos syndrome (vEDS) – Part 2 – Is In Vitro Fertilisation (IVF) safe in vEDS patients?

This PoK video gives an overview of acute aortic syndrome (AAS), a term which includes aortic dissection (accounting for 80% if AAS cases), intramural hematoma (IMH; 15% of AAS cases), and penetrating aortic ulcer (5% of AAS cases). The methods for classification and diagnosis, the imaging techniques used as well as the types of surgery and medical treatments recommended for AAS are also detailed.

What is chronic aortic dissection? By Professor Artur Evangelista

Presented by Dr. Leema Robert, Consultant Clinical Geneticist, Guys and St. Thomas Hospital , London, UK.

Following the video “pregnancy in vascular EDS (vEDS) syndrome”, this video looks at the current literature regarding the question of whether in vitro fertilization is safe in vEDS patients. The possible risks involved with ovarian stimulation as well as the topics of in vitro maturation (IVM) and pre-implantation genetic diagnosis are explored. Recommendations from the VASCERN MSA-WG are given.

Pregnancy in vascular Ehlers-Danlos syndrome (vEDS) – Part 1

This PoK discusses chronic aortic dissection, including its diagnosis and management. The physical and psychological aspects to consider in patients who have experienced an aortic dissection are noted. The follow-up and possible complications after aortic dissection that can occur are also listed.

How is the aorta monitored? By Dr. Gisela Teixido-Tura

Presented by Dr. Leema Robert, Consultant Clinical Geneticist, Guys and St. Thomas Hospital , London, UK.

Dr. Leema Robert, MSA-WG Chair, explores several cases of women with vascular EDS and three population studies in order to make conclusions and recommendations regarding pregnancy in vascular EDS patients. The recent European Society of Cardiology (ESC) guidelines are also briefly mentioned.

Monitoring and Management of vascular Ehlers-Danlos syndrome (vEDS)

This PoK gives an overview of the anatomy of the aorta as well as the imaging techniques used to visualize the aorta. These techniques, used to monitor the aorta in HTAD patients, are detailed and their special features are given. A very good overview for anyone wishing to learn more about the imaging techniques used for the monitoring and follow-up of HTAD patients.

What is aortic root replacement and when is it indicated? By Professor Zoltan Szabolcs and Dr. Kalman Benke

Presented by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 3 of 3) discussed the primary objectives of vEDS patient management and monitoring as well as the need for a dedicated multidisciplinary care team that has experience in vEDS. Current medical treatments for vEDS are also presented.

What to know before and during pregnancy in HTAD

This PoK video presents the basics of surgical reconstruction of the aortic root. The aorta and its main complications are first briefly explained, followed by the guidelines used to indicate prophylactic surgery in HTAD patients. The two main surgical techniques – aortic root replacement (ARR) and valve sparing root replacement (VSRR) are then detailed.

Natural history and complications of vascular EDS – Part 2

This PoK video presented by Professor Jolien Roos-Hesselink and Dr. Yaso Emmanuel gives a comprehensive overview of the issues to consider for patients with HTAD considering pregnancy. The main considerations include risk of recurrence, risk of an aortic event (during pregnancy/delivery), risks to the foetus, risks of the medications used during pregnancy and risks of further progressive disease in the mother. Appropriate advice for each patient will need to be individualized, according to each patient’s circumstances and medical history, which is why HTAD patients should talk to their cardiologist when they are considering pregnancy.

Clinical Features and Diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS) – Part 1

Presented by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 2 of 3) discusses natural history of vEDS from early childhood until adulthood. The most common complications seen in vEDS patients (e.g. arterial, digestive, obstetric), their frequency and their average age of onset are presented. Prognostic factors are also briefly explored.

Seven signs of Marfan syndrome by Professor Yskert von Kodolitsch

Presented by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 1 of 3) discusses the clinical characteristic features and the diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS).

Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 3 – Pathogenic variants in COL3A1 : haplo-insufficiency

This PoK video presents the seven signs of Marfan syndrome in a clear and understandeable manner. It can help anyone who suspects that they may have Marfan syndrome to assess their probability of having this rare disease, using a simple scoring system. This is not a tool for self-diagnosis, but if you have one or more of these signs you may wish to consider consulting with a Marfan syndrome specialist who will be able to give you more information and either confirm or rule out a diagnosis of Marfan syndrome.

Role of patient advocates in a European Reference Network

Presented by by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 3 of 3 – Pathogenic variants in COL3A1: haplo-insufficiency, the pathogenic variants in the COL3A1 gene that lead to haplo-insufficiency (i.e. only half of the protein being formed) are discussed. The genotype/phenotype correlation associated with this type of variants is presented.

Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 2 – Pathogenic variants in COL3A1: dominant negative effect

This video, made by European Patient Advocacy Group (ePAG) members of VASCERN’s Heritable Thoracic Aortic Diseases Working Group, explains the role of patient advocates in the European Reference Networks.

Video in English. Subtitles available in 4 European languages (Dutch, English, French and Hungarian).

What is Heritable Thoracic Aortic Disease (HTAD)?

Presented by by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 2 of 3 – Pathogenic variants in COL3A1: dominant negative effect, the pathogenic variants in the COL3A1 gene that lead to a “dominant negative effect” (i.e. which results in an altered gene product affecting the function of the normal protein) are discussed (i.e. glycine substitutions within the triple helix and splice-site variants, in-frame insertions/deletions/duplications). The genotype/phenotype correlation associated with each type of variant is also introduced.

Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 1 – Pathogenic variants in COL3A1

Created by Prof. Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This Pill of knowledge (PoK) talks about the group of vascular diseases known as Heritable Thoracic Aortic Diseases. Both syndromic and non-syndromic forms are described and the genetics of HTAD are also explored. It is suitable for healthcare professionals and anyone wishing to learn more about HTAD.

Video in English. Subtitles in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Sport and Marfan syndrome

Presented by by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 1 of 3 – Pathogenic variants in COL3A1 – The gene COL3A1, which is found to be mutated in most patients with vEDS, is presented and explanations are given on how it encodes an important component of the collagen fibers. The types of molecular genetic testing for variants in the COL3A1 gene are also briefly covered.

3 a week – the importance of exercise in Marfan and related Heritable Thoracic Aortic Diseases (HTAD)

Created by Prof. Guillaume Jondeau (Cardiologue, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France).

This Pill of knowledge talks about how physical activity is beneficial for Marfan syndrome patients and the types of sports that are adapted for these patients and which to avoid. It is meant for patients and gives clear and simple explanations for why certain sports are well tolerated in Marfan patients and others are not.

Video in French. Subtitles available in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Gastrointestinal Complications in vascular Ehlers-Danlos Syndrome (vEDS)

Created by Prof. Guillaume Jondeau (Cardiologist, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France) and Lise Murphy (European Patient Advocacy Group (ePAG) Patient Advocate Co-Chair for HTAD, Svenska Marfanföreningen, Sweden).

This Pill of Knowledge (PoK) features a conversation between a patient and doctor about the importance of physical activity and what exercise is suitable for patients with Marfan syndrome. It aims to encourage Marfan syndrome patients to participate in a suitable form of exercise 3 times a week. This message will be further shared via the 3 a week campaign.

Video in English subtitles available in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Arterial Complications of Vascular Ehlers-Danlos Syndrome (vEDS)

Presented by Dr. Salma Adham (Vascular Physician, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou (HEGP), Paris, France).

This Pill of knowledge (PoK) gives a thorough overview of the gastrointestinal complications associated with vascular Ehlers-Danlos Syndrome (vEDS). It details the first digestive complications most frequently encountered in vEDS patients and is directed towards healthcare professionals and the scientific community. Scientific data on this subject is equally presented.

Video in English. Subtitles available in 5 European languages (English, French, German, Italian and Dutch).

Unmet medical needs in vascular Ehlers-Danlos Syndrome (vEDS) – patients perspective

Presented by Dr. Michael Frank (Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen – Georges Pompidou (HEGP), Paris, France).

In this Pill of knowledge (PoK), Dr. Michael Frank gives a complete overview of the arterial complications associated with Vascular Ehlers-Danlos Syndrome (vEDS) and the most common treatment for each type of complication. This PoK is meant educate healthcare professionals who are not yet familiar with vEDS in order for them to be aware of the complications that occur in these patients.

Video in English. Subtitles available in 4 European languages (English, French, Italian and Dutch).

Marfan Syndrome -Diagnosis by Julie De Backer

Presented by Juergen Grunert (President Deutsche Ehlers-Danlos Initiative e.V.) and Charissa Frank (President bindweefsel.be, ePAG Medium Sized Arteries Working Group (MSA-WG)).

In this Pill of Knowledge (PoK), our ePAG patient advocates for the Medium-Sized working group (MSA-WG) talk about vascular Ehlers-Danlos syndrome (vEDS) from a patient’s perspective. Their conversation covers both the unmet needs of vEDS patients and how the VASCERN MSA-WG is working to fulfill these needs (e.g. via educational materials, patient pathways and Do’s and Don’ts factsheets). It is directed towards patients, healthcare professionals and the general public in order to raise awareness for this rare vascular disease.

Video in English. Subtitles available in 5 European languages (English, French, German, Italian and Dutch).

VASCERN Webinar: Aortic surgery in Marfan syndrome (and other HTADs) Q&A session

Marfan Syndrome -Diagnosis by HTAD-WG Chair Prof Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This PoK gives an overview of the diagnosis of Marfan syndrome with its main clinical manifestations and diagnostic criteria described. The genetics of this rare disease are also briefly outlined in a clear and comprehensible manner. This video is a great introduction to Marfan syndrome that is suitable for both the general public and the medical community.

Video in English. Subtitles available in 7 European languages (English, French, Dutch, German, Italian, Spanish and Hungarian).

VASCERN Webinar: Aortic surgery in Marfan syndrome (and other HTADs)

ERN-EYE and VASCERN Joint Webinar – Marfan an update

Pregnancy, delivery and postpartum care in Marfan Syndrome – Delivery

Pregnancy delivery and postpartum care in Marfan Syndrome – Delivery

Pregnancy delivery and postpartum care in vEDS – Pregnancy

Pregnancy delivery and postpartum care in Marfan Syndrome – Postpartum care

Pregnancy delivery and postpartum care in Marfan Syndrome – During Pregnancy

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN

November 29 2022

Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G. HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN. Eur J Med Genet. 2023 Jan;66(1):104673. doi: 10.1016/j.ejmg.2022.104673. Epub 2022 Nov 29. PMID: 36460281.

Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)

October 13 2022

Devoogdt N, Van Zanten M, Damstra R, Van Duinen K, Dickinson-Blok JL, Thomis S, Giacalone G, Belva F, Suominen S, Kavola H, Oberlin M, Rossler J, Rucigaj TP, Riches K, Mansour S, Gordon K, Vignes S, Keeley V. Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN). Eur J Med Genet. 2022 Dec;65(12):104641. doi: 10.1016/j.ejmg.2022.104641. Epub 2022 Oct 13. PMID: 36243335.

The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations

October 09 2022

Ghaffarpour, N., Baselga, E., Boon, L. M., Diociaiuti, A., Dompmartin, A., Dvorakova, V., El Hachem, M., Gasparella, P., Haxhija, E., Kyrklund, K., Irvine, A. D., Kapp, F. G., Rößler, J., Salminen, P., van den Bosch, C., van der Vleuten, C., Kool, L. S., & Vikkula, M. (2022). The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations. European journal of medical genetics, 65(12), 104637. https://doi.org/10.1016/j.ejmg.2022.104637

Phenotype of COL3A1/COL5A2 deletion patients

August 11 2022

Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N, Loeys B. Phenotype of COL3A1/COL5A2 deletion patients. Eur J Med Genet. 2022 Oct;65(10):104593. doi: 10.1016/j.ejmg.2022.104593. Epub 2022 Aug 11. PMID: 35964930.

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

June 30 2022

van de Laar IMBH, Baas AF, De Backer J, Blankenstein JD, Dulfer E, Helderman-van den Enden ATJM, Houweling AC, Kempers MJ, Loeys B, Malfait F, Robert L, Tanteles G, Frank M. Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). Eur J Med Genet. 2022 Sep;65(9):104557. doi: 10.1016/j.ejmg.2022.104557. Epub 2022 Jun 30. PMID: 35779834.

Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations

June 10 2022

Boon L.M, Dekeuleneer V, Coulie J, Marot L, Bataille A.C, Hammer F, Clapuyt P, Jeanjean A, Dompmartin A, Vikkula M. Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations. Nat Cardiovasc Res 1, 562–567 (2022). https://doi.org/10.1038/s44161-022-00080-2

The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas

April 27 2022

Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas. Eur J Med Genet. 2022 Jun;65(6):104517. doi: 10.1016/j.ejmg.2022.104517. Epub 2022 Apr 27. PMID: 35487416.

The ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease

April 20 2022

Devoogdt N, Partsch H, Heroes AK, De Vrieze T, De Groef A, Geraerts I, Damstra RJ, Hafner J, Keeley V, Becker A, Mosti G, Brouwer E, Thomis S. The ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease. Lymphat Res Biol. 2022 Apr;20(2):191-202. doi: 10.1089/lrb.2020.0125. Epub 2021 Mar 30. PMID: 33781091; PMCID: PMC9081015.

Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study

April 12 2022

Demolder, A., Bianco, L., Caruana, M., Cervi, E., Evangelista, A., Jondeau, G., Buttigieg, L. L., López-Sainz, Á., Delmás, E. M., Pini, A., Sabaté-Rotés, A., Szöcs, K., Tchitchinadze, M., Teixidó-Tura, G., von Kodolitsch, Y., Muiño-Mosquera, L., & De Backer, J. (2022). Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study. European journal of medical genetics, 65(6), 104503. https://doi.org/10.1016/j.ejmg.2022.104503

Педиатричен и първичен лимфедем Схема на действие при еризипел за пациенти с лимфедем

January 01 2022

Diagnostic and Management Pathway for Lymphatic Malformations

December 23 2021

This is a recording of the VASCERN webinar, Diagnostic and Management Pathway for Lymphatic Malformations presented Dr. Nader Ghaffarpour, Pediatric surgeon from Karolinska University Hospital in Stockholm, Sweden.

Video in English.

Lymphoedème primaire et pédiatrique compression chez l’enfant : à faire et à ne pas faire

Linfedema pediatrico e primario Compressioni pediatriche da fare e da non fare

Pediatric & Primary Lymphedema Children’s Compression Do’s and Don’ts

Kompresjonstiltak for barn og barn med primært lymfødem – hva man bør og ikke bør gjøre

Pediatrisch & primair lymfoedeem Do’s en Don’ts kindercompressie

Rosfeber Flödesschema för Patienter med Lymfödem

Linfedema pediátrico e primário o que fazer e o que não fazer com a compressão infantil

Flödesschemat ger riktlinjer för hantering av rosfeber hos lymfödempatienter, med tecken, diagnos, behandling, förebyggande och egenvård för bättre resultat.

Genetické testovanie primárneho lymfedému – pohľad matky

Test genetici per il linfedema primario – il punto di vista di una madre

Pruebas genéticas para el linfedema primario: la perspectiva de una madre

Genetic Testing for primary lymphedema – a mother’s perspective

Teste genético para linfedema primário – perspectiva de uma mãe

Created by Carina Mainka (ePAG patient advocate for the PPL WG and representative of KIF11 Kids e.V.) and validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG).

Carina presents the importance of genetic testing and receiving proper genetic counselling when primary lymphedema is diagnosed in a family and how reaching out to a patient association can be of great support.

Video in German. Subtitles available in German, English, French, Portuguese, Swedish, Norwegian, Finnish, Italian, Slovenian, Spanish, Dutch and Danish.

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network

Primary lymphoedema

October 21 2021

Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M. Primary lymphoedema. Nat Rev Dis Primers. 2021 Oct 21;7(1):77. doi: 10.1038/s41572-021-00309-7. PMID: 34675250.

September 30 2021

Holm A, Te Loo M, Schultze Kool L, Salminen P, Celis V, Baselga E, Duignan S, Dvorakova V, Irvine AD, Boon LM, Vikkula M, Ghaffarpour N, Niemeyer CM, Rössler J, Kapp FG. Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network. Front Pediatr. 2021 Sep 30;9:697960. doi: 10.3389/fped.2021.697960. PMID: 34660476; PMCID: PMC8515018.

Loeys-Dietz syndrome Do’s and Don’ts Factsheets

September 29 2021

Pediatric & Primary Lymphedema Skincare Do’s and Don’ts EN

Hva man bør og ikke bør gjøre når det gjelder hudpleie ved pediatrisk og primært lymfødem

Pediatrische en primaire lymfoedeem huidverzorging do’s en don’ts

O que fazer e o que não fazer nos cuidados de pele do linfedema pediátrico e primário

VASCERN Webinar: Infections and Lymphedema

March 24 2021

This webinar on “Infection and Lymphedema” includes an informative presentation followed by a Q&A session, featuring questions collected from the Pediatric and Primary Lymphedema (PPL) patient community.

Featuring PPL Working Group members: Dr. Kirsten van Duinen, Dr. Tanja Planinšek Ručigaj, Manuela Lourenço Marques (ePAG Deputy Co-Chair for PPL) and Pernille Henriksen (ePAG Co-Chair for PPL).

Please also refer to the accompanying document: Cellulitis Flowchart for Patients with Lymphedema

Severe adverse events during sirolimus “off-label” therapy for vascular anomalies

February 13 2021

Rössler J, Baselga E, Davila V, Celis V, Diociaiuti A, El Hachem M, Mestre S, Haeberli D, Prokop A, Hanke C, Loichinger W, Quéré I, Baumgartner I, Niemeyer CM, Kapp FG. Severe adverse events during sirolimus “off-label” therapy for vascular anomalies. Pediatr Blood Cancer. 2021 Aug;68(8):e28936. doi: 10.1002/pbc.28936. Epub 2021 Feb 13. PMID: 33580918.

VASCERN Hereditary Haemorrhagic Telangiectasia (HHT) Working Group – Statement concerning SARS-CoV-2 vaccination for patients with HHT

February 04 2021

VASCERN Hereditary Haemorrhagic Telangiectasia (HHT) Statement on COVID-19

February 04 2021

Claire L. Shovlin, Carlo Sabba, Hans Jurgen Mager, Anette Kjeldsen, Ulrich Sure, Elisabetta Buscarini and Sophie Dupuis-Girod.

Consensus Statement on COVID-19 vaccination for patients with vascular Ehlers-Danlos syndrome

January 18 2021

The VASCERN Medium Sized Arteries Working Group experts provided an opinion statement on vaccination for patients with vascular Ehlers-Danlos Syndrome (vEDS).

VASCERN Vascular Anomalies (VASCA) Working Group – Statement concerning SARS-CoV-2 Vaccination for Patients with Vascular Malformations

January 15 2021

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

December 15 2020

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. PMID: 32894695.

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

June 29 2020

Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364; PMCID: PMC7322871.

New and Emerging Targeted Therapies for Vascular Malformations

June 15 2020

Van Damme A, Seront E, Dekeuleneer V, Boon LM, Vikkula M. New and Emerging Targeted Therapies for Vascular Malformations. Am J Clin Dermatol. 2020 Oct;21(5):657-668. doi: 10.1007/s40257-020-00528-w. PMID: 32557381.

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

May 14 2020

Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S. Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. J Med Genet. 2020 Oct;57(10):653-659. doi: 10.1136/jmedgenet-2019-106084. Epub 2020 May 14. PMID: 32409509; PMCID: PMC7525776.

Lymphatic Malformation Patient Pathway

April 29 2020

This document offers a detailed pathway that outlines the journey from diagnosis through treatment and management. For more insights on the Lymphatic Malformation Patient Pathway, we invite you to also read the published paper and watch the webinar replay on this pathway.

Venous Malformation Patient Pathway

April 29 2020

This document offers a detailed pathway that outlines the journey from diagnosis through treatment and management. For more insights on the Venous Malformation Patient Pathway, we invite you also to read the published paper and watch the webinar replay on this pathway.

Capillary Malformation Patient Pathway

April 29 2020

This document offers a detailed pathway that outlines the journey from diagnosis through treatment and management.

The Infantile Hemangioma Referral Score: A Validated Tool for Physicians

April 01 2020

Léauté-Labrèze C, Baselga Torres E, Weibel L, Boon LM, El Hachem M, van der Vleuten C, Roessler J, Troilius Rubin A. The Infantile Hemangioma Referral Score: A Validated Tool for Physicians. Pediatrics. 2020 Apr;145(4):e20191628. doi: 10.1542/peds.2019-1628. Epub 2020 Mar 11. PMID: 32161112.

VASCERN Vascular Anomalies (VASCA) Working Group COVID-19 Statement (March 20, 2020)

March 20 2020

Initiated by the patient advocacy groups in Europe and the United States and their medical advisory teams and approved by the VASCA WG.

Consensus statement on COVID-19 & vascular Ehlers-Danlos Syndrome

March 03 2020

With the global spread of the novel coronavirus SARS Cov-2, causing COVID 19, the VASCERN Medium Sized Arteries Working Group experts echoed some of the WHO guidelines regarding the virus specific to the vascular Ehlers-Danlos Syndrome (vEDS) community.

Poster – European Reference Networks for rare and complex diseases 2019

November 10 2019

A Clinical Feasibility Study To Image Angiogenesis in Patients With Arteriovenous Malformations Using 68Ga-RGD PET/CT

September 13 2019

Lobeek D, Bouwman FCM, Aarntzen EHJG, Molkenboer-Kuenen JDM, Flucke UE, Nguyen HL, Vikkula M, Boon LM, Klein W, Laverman P, Oyen WJG, Boerman OC, Terry SYA, Schultze Kool LJ, Rijpkema M. A Clinical Feasibility Study to Image Angiogenesis in Patients with Arteriovenous Malformations Using ⁶⁸Ga-RGD PET/CT. J Nucl Med. 2020 Feb;61(2):270-275. doi: 10.2967/jnumed.119.231167. Epub 2019 Sep 13. PMID: 31519800; PMCID: PMC7100027.

The HTAD Patient Pathway Version 2 (issued 29/08/2019)

August 29 2019

Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia

August 28 2019

Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1. PMID: 31462308; PMCID: PMC6714298.

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study

April 15 2019

Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X. Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. PMID: 30999998.

Merkblätter zu Do’s and Don’ts Factsheets für Hereditäre Hämorrhagische Teleangiektasie

Fichas Informativas de Qué Hacer y Qué No Hacer para la Telangiectasia Hemorrágica Hereditaria

Schede Informativa sui Comportamenti Corretti e Scorretti per la Telangiectasia Emorragica Ereditaria

Do’s and Don’ts faktaark om hereditær hæmoragisk telangiektasi

Do’s en Don’ts Factsheets voor de ziekte van Rendu-Osler Weber

Algoritmo Clinico : Hemangioma infantil severo/raro

Percoso Del Paziente: Emangioma Infantile Grave/Raro (VASCA)

Severe/Rare Infantile Hemangioma

Schwere / seltene infantile Hämangiome

This document offers a detailed pathway that outlines the journey from diagnosis through treatment and management. For more insights on the Severe/Rare Infantile Hemangioma Patient Pathway, we invite you also to read the published paper and watch the webinar replay on this pathway.

Komplicerade Infantila Hemangiom

Compression dans le lymphœdème primaire et pédiatrique, Dr. Kirsten F. van Duinen

Godkänt patientflödes algorithm

Cellulitis / Erysipelas in Pediatric and Primary Lymphedema

Compression in Pediatric and Primary Lymphedema

Created by Dr. Vaughan Keeley (Lymphedema Consultant, Derby Teaching Hospitals NHSF Trust, Derby, UK)

In this Pill of Knowledge (PoK), Dr. Vaughan Keeley gives an overview of cellulitis/erysipelas, which is a bacterial infection and a common complication in patients with Pediatric and Primary Lymphedema (PPL). He reviews the clinical presentation, diagnosis and treatment for cellulitis. This PoK is suitable for both patients and healthcare professionals.

Video in English. Subtitles available in 4 European languages (English, French, Dutch and German).

Cellulitis in Pediatrisch en primair lymfoedeem, Dr. Vaughan Keeley

Created by Dr. Kirsten F. van Duinen (Dermatologist, Nij Smellinghe Hospital Drachten, Netherlands)

This Pill of Knowledge (PoK) introduces the therapeutic process involved in the treatment of Pediatric and Primary Lymphedema (PPL) and how compression therapy is the cornerstone of management and treatment in PPL. It is intended for healthcare professionals and patients who would like to know more about the different types of compression therapy used to manage PPL.

Video in English. Subtitles available in 4 European languages (Dutch, English, French and German).