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Home - VASCERN resources in all languages

VASCERN resources in all languages

VASCERN resources in all languages 5

Добре дошли в уебсайта на VASCERN!

VASCERN, Европейската референтна мрежа за редки мултисистемни съдови заболявания, е посветена на събирането на най-добрия експертен опит в Европа, за да се осигури достъпно трансгранично здравно обслужване на пациентите с редки съдови заболявания (приблизително 1,3 милиона засегнати). Те включват артериални заболявания (засягащи от аортата до малките артерии), артерио-венозни аномалии, съдови малформации и лимфни заболявания.

Понастоящем VASCERN обединява 48 експертни екипа от 39 високоспециализирани мултидисциплинарни НЦЗПБ и 6 допълнителни партньорски центъра от 19 държави – членки на ЕС, както и различни европейски пациентски организации, и се координира в Париж, Франция.

Чрез нашите 6 работни групи по редки болести (РГРБ), както и няколко тематични РГ и ePAG – Европейската група за застъпничество на пациентите, ние целим да подобрим грижите, да популяризираме най-добрите практики и насоки, да укрепим научните изследвания, да дадем възможност на пациентите, да осигурим обучение на здравните специалисти и да реализираме пълния потенциал на европейското сътрудничество в областта на специализираното здравеопазване, като използваме последните иновации в медицинската наука и здравните технологии.

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Patient-centered Quality Outcome Measures of Heritable Thoracic Aortic Disease Care
September 08 2023

Entbindung/ Gebären und Postpartum bei Lymphödem
August 08 2023

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:

 


Familienplanung bei Lymphödem
August 08 2023

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:

 


Pregnancy Series: Delivery/Postpartum Care with Lymphedema
August 08 2023

This video is part of 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

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:

 


Pregnancy Series: Family Planning with Lymphedema
August 08 2023

This video is part of 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

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:

 


Schwangerschaft und Lymphödeme
August 08 2023

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 Links:

 


Pregnancy Series: Pregnancy with Lymphedema
August 08 2023

This video is part of 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

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:

 


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 2020.


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

 


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


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.


Authorship Guidelines
May 04 2023

VASCERN Terms of Reference
May 04 2023

Bakoumba
May 04 2023

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

Bakoumba 1

Europeiska Referensnätverk För Sällsynta Och Svåra Sjukdomar
April 21 2023

Europeiska Referensnätverk Hjälper Patienter Med Sällsynta Eller Komplexa Sjukdomar
April 21 2023

Europeiska Referensnätverk Hjälper Patienter Med Sällsynta Eller Komplexa Sjukdomar
April 21 2023

Informationsvideo om ERN för patienter och vårdpersonal
April 21 2023

ERN-videoklipp
April 21 2023

Hur kan VASCERN hjälpa dig?
April 21 2023

Eurooppalaiset Osaamisverkostot Harvinaisia, Esiintyvyydeltään Alhaisia Ja Monitekijäisiä Sairauksia Varten
April 21 2023

Eurooppalaiset Osaamisverkostot Apua Harvinaisia Ja Vaikeitasairauksia Sairastaville
April 21 2023

Eurooppalaiset Osaamisverkostot Apua Harvinaisia Ja Vaikeitasairauksia Sairastaville
April 21 2023

Tájékoztató videó a betegek és az egészségügyi szakemberek számára az ERN-ről
April 21 2023

ERN videoklip
April 21 2023

Európske Referenčné Siete Pre Zriedkavé, Málo Rozšírené A Komplexné Choroby
April 21 2023

Európske Referenčné Siete Pomoc Pacientom So Zriedkavými Lebo Komplexnými Chorobami
April 21 2023

Európske Referenčné Siete Pomoc Pacientom So Zriedkavými Lebo Komplexnými Chorobami
April 21 2023

Informativni videoposnetek za bolnike in zdravstvene delavce o ERN
April 21 2023

Videoklip ERN
April 21 2023

Ako vám VASCERN môže pomôcť?
April 21 2023

Evropske Referenčne Mreže Za Redke Bolezni, Bolezni Z Nizko Stopnjo Prevalence In Kompleksne Bolezni
April 21 2023

Evropske Referenčne Mreže Pomoč Pacientom Z Redkimi Ali Kompleksnimi Boleznimi
April 21 2023

Evropske Referenčne Mreže Pomoč Pacientom Z Redkimi Ali Kompleksnimi Boleznimi
April 21 2023

Informačné video pre pacientov a zdravotníckych pracovníkov o ERN
April 21 2023

Videoklip ERN
April 21 2023

Na kakšen način vam je VASCERN lahko v pomoč?
April 21 2023

Rețele Europene De Referință Pentru Bolile Rare, Bolile Cu Prevalență Redusă Și Bolile Complexe
April 21 2023

Rețelele Europene De Referință Ajutorarea Pacienților Care Suferă De Boli Rare Sau Complexe
April 21 2023

Rețelele Europene De Referință Ajutorarea Pacienților Care Suferă De Boli Rare Sau Complexe
April 21 2023

Videoclip de informare pentru pacienți și profesioniștii din domeniul sănătății cu privire la ERN-uri
April 21 2023

Videoclipul ERN
April 21 2023

Cum vă poate ajuta VASCERN?
April 21 2023

Redes Europeias De Referência Para Doenças Raras, Complexas E De Baixa Prevalência
April 21 2023

Redes Europeias De Referência Ajudar Os Doentes Com Doenças Raras Ou Complexas
April 21 2023

Redes Europeias De Referência Ajudar Os Doentes Com Doenças Raras Ou Complexas
April 21 2023

Vídeo informativo para doentes e profissionais de saúde sobre as ERNs
April 21 2023

Videoclipe ERN
April 21 2023

Como é que VASCERN o pode ajudar?
April 21 2023

Film informacyjny dla pacjentów i pracowników służby zdrowia na temat ERN
April 21 2023

Europeiske Referansenettverk For Sjeldne Sykdommer, Sykdommer Med Lav Prevalens Og Komplekse Tilstander
April 21 2023

Hjelp Til Pasienter Med Sjeldne Eller Sammensatte Sykdommer
April 21 2023

Hjelp Til Pasienter Med Sjeldne Eller Sammensatte Sykdommer
April 21 2023

Informasjonsvideo om ERN for pasienter og helsepersonell
April 20 2023

ERN-videoklipp
April 20 2023

Hulp Bieden Aan Patiënten Met Zeldzame Of Complexe Aandoeningen
April 20 2023

Hulp Bieden aan Patiënten Met Zeldzame Of Complexe Aandoeningen
April 20 2023

Informatievideo voor patiënten en gezondheidswerkers over ERN’s
April 20 2023

ERN videoclip
April 20 2023

Hoe kan VASCERN u helpen?
April 20 2023

Netwerks Ta’ Referenza Ewropej Għal Mard Rari, Ta’ Prevalenza Baxxa U Kkumplikat
April 20 2023

Għajnuna Lill-Pazjenti B’mard Rari Jew Kumpless
April 20 2023

Għajnuna Lill-Pazjenti B’mard Rari Jew Kumpless
April 20 2023

Vidjow ta’ informazzjoni għall-pazjenti u l-professjonisti tal-kura tas-saħħa dwar l-ERNs
April 20 2023

ERN videoclip
April 20 2023

Eruopai Referenciahálózatok (Erh) A Ritka, Kis Prevalenciájú És Összetett Betegségek Számára
April 20 2023

Európai Referenciahálózatok Alacsony Előfordulású Ritkavagy Összetett Betegségekben Szenvedő, Betegek Segítése
April 20 2023

Európai Referenciahálózatok Alacsony Előfordulású Ritka Vagy Összetett Betegségekben Szenvedő, Betegek Segítése
April 20 2023

Tájékoztató videó a betegek és az egészségügyi szakemberek számára az ERN-ről
April 20 2023

ERN videoklip
April 20 2023

Hogyan segíthet a VASCERN
April 20 2023

Europos Referencijos Centrų Tinklai Retos, Mažai Paplitusios Ir Sudėtingos Ligos
April 20 2023

Pagalba Retosiomis Arba Sudėtingomis Ligomis Sergantiems Pacientams
April 20 2023

Pagalba Retosiomis Arba Sudėtingomis Ligomis Sergantiems Pacientams
April 20 2023

Pacientams ir sveikatos priežiūros specialistams skirtas informacinis vaizdo įrašas apie ERN
April 20 2023

ERN vaizdo klipas
April 20 2023

Kaip „VASCERN“ gali padėti?
April 20 2023

Retu, Maz Izplatītu Un Sarežģītu Slimību Jomā
April 20 2023

Palīdzība Pacientiem Ar Retām Vai Kompleksām Slimībām
April 20 2023

Palīdzība Pacientiem Ar Retām Vai Kompleksām Slimībām
April 20 2023

Informatīvs video pacientiem un veselības aprūpes speciālistiem par ERN
April 20 2023

ERN videoklips
April 20 2023

Kā VASCERN var Jums palīdzēt?
April 20 2023

Za Rijetke Bolesti, Bolesti S Niskim Stupnjem Raširenosti I Složene Bolesti
April 20 2023

Pomoć Pacijentima S Rijetkim Ili Kompleksnim Bolestima S Niskim Stupnjem Raširenosti
April 20 2023

Pomoć Pacijentima S Rijetkim Ili Kompleksnim Bolestima S Niskim Stupnjem Raširenosti
April 20 2023

Informativni video za pacijente i zdravstvene djelatnike o ERN-ovima
April 20 2023

ERN video zapis
April 20 2023

Kako vam VASCERN može pomoći?
April 20 2023

Για Σπανια Νοσηματα, Πολυπλοκεσ Νοσουσ Και Παθησεισ Χαμηλου Επιπολασμου
April 19 2023

Στηριξη Των Ασθενων Με Σπανιεσ Ή Πολυπλοκεσ Νοσουσ
April 19 2023

Βιντεοκλίπ της ERN
April 19 2023

Ενημερωτικό βίντεο για ασθενείς και επαγγελματίες υγείας σχετικά με τα ERN
April 19 2023

Abi Harvik- Või Komplekshaigusega Patsiendile
April 19 2023

Abi Harvik- Või Komplekshaigusega Patsiendile
April 19 2023

ERNi videoklipp
April 19 2023

Infovideo patsientidele ja tervishoiutöötajatele ERNide kohta
April 19 2023

For Sjældne Sygdomme, Sygdomme Med Lav Prævalens Og Komplekse Sygdomme
April 19 2023

Hjælp Til Patienter Med Sjældne Eller Komplekse Sygdomme
April 19 2023

Informationsvideo til patienter og sundhedspersonale om ERN’er
April 19 2023

ERN-videoklip
April 19 2023

Pro Vzácná, Málo Rozšířená A Komplexní Onemocnění
April 19 2023

Pomoc Pacientům Se Vzácným Nebo Málo Rozšířeným Komplexním Onemocněním
April 19 2023

Informační video pro pacienty a zdravotníky o ERN
April 19 2023

Videoklip ERN
April 19 2023

Jak Vám může VASCERN pomoci?
April 19 2023

Treatment of lymphatic malformations
April 19 2023

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).


Klippel-Trenaunay syndrome (KTS)
April 19 2023

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).


The PIK3CA gene and related vascular malformations
April 19 2023

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.


Genetische tests voor primair lymfoedeem – het perspectief van een moeder
April 19 2023

Lymfoedeem vanuit het perspectief van een tiener
April 19 2023

Il linfedema dal punto di vista di un adolescente
April 19 2023

Le lymphœdème du point de vue de l’adolescent
April 19 2023

Tests génétiques pour le lymphœdème primaire – le point de vue d’une mère
April 19 2023

El linfedema desde la perspectiva de una adolescente
April 19 2023

Lymfødem fra et barns perspektiv
April 19 2023

Genetisk testning for primær lymfødem – en mors perspektiv
April 19 2023

Lymfødem fra en teenagers perspektiv
April 19 2023

Vad är en akut aortadissektion? by Prof. Artur Evangelista
April 19 2023

Vad är kronisk aortadissektion? by Prof. Artur Evangelista
April 19 2023

Hur övervakas aortan? by Dr. Gisela Teixido-Tura
April 19 2023

Vad är aortikarotbyte och när är det lämpligt? by Prof. Zoltan Szabolcs and Dr. Kalman Benke
April 19 2023

Vad man bör veta före och under graviditeten vid HTAD by Prof. Jolien Roos-Hesselink and Dr. Yaso Emmanuel
April 19 2023

Sju tecken på Marfans syndrom by Prof. Yskert von Kodolitsch
April 19 2023

A Marfan-szindróma hét jele by Prof. Yskert von Kodolitsch
April 19 2023

A betegjogi képviselők szerepe egy európai referenciahálózatban
April 19 2023

Mi az örökletes mellkasi aorta betegség (HTAD)? by Prof. Julie De Backer
April 19 2023

Sport és Marfan-szindróma by Prof. Guillaume Jondeau
April 19 2023

Heti 3 – a testmozgás fontossága a Marfan- és a kapcsolódó örökletes mellkasi aorta betegségekben (HTAD) by Prof. Guillaume Jondeau and Lise Murphy
April 19 2023

Marfan-szindróma – Diagnózis By Prof. Julie De Backer
April 19 2023

Comment l’aorte est-elle surveillée ? By Dr. Gisela Teixido-Tura
April 19 2023

Qu’est-ce que le remplacement de la racine aortique et quand est-il indiqué ? By Professor Zoltan Szabolcs and Dr. Kalman Benke
April 19 2023

Genetic Counseling in Heritable Thoracic Aortic Diseases By Liesbeth Wildero – Van Wouwe
April 19 2023

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.


Wat is erfelijke thoracale aortaziekte (HTAD)? Prof. Julie De Backer
April 19 2023

Moyamoya Angiopathy Do’s and Don’ts Factsheet
April 19 2023

CADASIL Do’s and Don’ts Factsheet
April 19 2023

Pregnancy and Thoracic Aortic Disease: Managing the Risks
April 18 2023

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.


2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy
April 18 2023

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 Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
April 18 2023

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.


Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
April 18 2023

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.


The revised Ghent nosology for the Marfan syndrome
April 18 2023

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.


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
April 18 2023

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.


Echocardiography in aortic diseases: EAE recommendations for clinical practice
April 18 2023

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.


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)
April 18 2023

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.


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
April 18 2023

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.


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
April 18 2023

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.


2017 ESC/EACTS Guidelines for the management of valvular heart disease
April 18 2023

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


Management of Descending Thoracic Aorta Diseases: Clinical Practice Guidelines of the European Society for Vascular Surgery (ESVS)
April 18 2023

2020 ESC Guidelines for the management of adult congenital heart disease
April 18 2023

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


Everything you wanted to know about Vascular Ehlers-Danlos Syndrome Part 1
April 18 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 more.


Phenotype of COL3A1/COL5A2 deletion patients
April 18 2023

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


Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
April 18 2023

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. Eur J Med Genet. 2022 Sep;65(9):104557. doi: 10.1016/j.ejmg.2022.104557. Epub 2022 Jun 30. PMID: 35779834.


Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study
April 18 2023

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. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. PMID: 30999998.


Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome
April 18 2023

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Genet Med. 2018 Nov 26. doi: 10.1038/s41436-018-0356-2. [Epub ahead of print] PMID: 30474650


Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients
April 18 2023

Demirdas S, Dulfer E, Robert LKempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.PMID: 27582382


The 2017 international classification of the Ehlers-Danlos syndromes
April 18 2023

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.PMID: 28306229


Consensus recommendations on lymphedema in Phelan-McDermid syndrome
April 17 2023

Genetisk testning för primärt lymfödem – en mammas perspektiv
April 17 2023

Lymfödem ur en tonårings perspektiv
April 17 2023

Rosfeber Flödesschema för Patienter med Lymfödem
April 17 2023

Hudvård
April 17 2023

Kompression för barn med lymfödem
April 17 2023

Lymfödem – från ett barns perspektiv, Leonor
April 17 2023

Komplicerade Infantila Hemangiom
April 17 2023

Godkänt patientflödes algorithm


Klippel-Trénaunay syndrom, HEVAS
April 17 2023

Behandling av lymfatiska missbildningar, HEVAS
April 17 2023

Lymfsystemet och lymfatiska missbildningar, HEVAS
April 17 2023

Klassifikation av kärlanomalier, Prof. Laurence Boon
April 17 2023

Diagnostiskt tillvägagångssätt för vaskulära anomalier, Dr. Friedrich Kapp
April 17 2023

Hantering av kärlanomalier, Dr. Kristiina Kyrklund
April 17 2023

Tvärvetenskapliga expertgrupper för vaskulära anomalier (VASCA-WG piller av kunskap), Prof. Leo Schultze Kool
April 17 2023

Marfans syndrom och relaterade sjukdomar (HTAD)
April 17 2023

Vad är HTAD? Prof. Julie De Backer
April 17 2023

Sport och Marfans syndrom, Prof. Guillaume Jondeau
April 17 2023

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
April 17 2023

Primaarisen lymfedeeman geneettinen testaus – äidin näkökulma
April 17 2023

Lymfedeema alkaen teini näkökulmasta
April 17 2023

Suonipoikkeavuuksien hoidot, Dr. Kristiina Kyrklund
April 17 2023

Suonipoikkeavuuksien diagnostiikka, Dr. Friedrich Kapp
April 17 2023

Moniammatilliset tiimit suonipoikkeavuuksien hoidossa, Prof. Leo Schultze Kool
April 17 2023

Suonipoikkeavuuksien luokitus, Prof. Laurence Boon
April 17 2023

Yleiskatsaus lasten ja aikuisten primääristä lymfödeemasta
April 17 2023

ERISIPELA – Fluxograma para doentes com linfedema (PT)
April 17 2023

Dispositivos de Compressão para crianças
April 17 2023

Cuidados com a pele
April 17 2023

Linfedema na perspectiva de adolescentes
April 17 2023

Linfedema – na perspectiva de uma criança, Leonor
April 17 2023

Genetisk testing for primært lymfødem – en mors perspektiv
April 15 2023

Lymfødem fra en tenårings perspektiv
April 15 2023

Hudpleje
April 15 2023

Barns kompresjon
April 15 2023

Klippel-Trénaunay-syndroom, HEVAS
April 15 2023

Behandelingen voor lymfatische malformaties, HEVAS
April 15 2023

Het lymfestelsel & lymfatische malformaties, HEVAS
April 15 2023

Multidisciplinaire expertiseteams voor Vasculaire Anomalieën, Prof. Leo Schultze Kool
April 15 2023

Behandelingen van vasculaire anomalieen, Dr. Kristiina Kyrklund
April 15 2023

Diagnostische benaderingen voor vasculaire anomalieën, Dr. Friedrich Kapp
April 15 2023

Classificatie van vaatafwijkingen, Prof. Laurence Boon
April 15 2023

Huid verzorging
April 15 2023

Wondroos schema voor lymfoedeem patiënten
April 15 2023

Compressie voor kinderen
April 15 2023

Do’s en Don’ts: Pediatrisch en primair lymfoedeem (PPL)
April 15 2023

Lymfoedeem – het perspectief van een kind, Leonor
April 15 2023

Een overzicht van primair lymfoedeem bij kinderen en volwassenen
April 15 2023

Compressie bij pediatrisch en primair lymfoedeem, Dr. Kirsten F. van Duinen
April 15 2023

Onvervulde medische behoefte bij het vasculair Ehlers-Danlos syndroom (vEDS) – patiëntenperspectief, Juergen Grunert
April 15 2023

Gastro-intestinale complicaties in vasculaire Ehlers-Danlos syndroom (vEDS), Dr. Salam Adham
April 15 2023

Arteriële complicaties van het vasculaire Ehlers-Danlos syndroom (vEDS), Dr. Michael Frank
April 15 2023

Do’s en Don’ts: Marfansyndroom en verwante aandoeningen
April 15 2023

Wat is aortawortelvervanging en wanneer is dit aangewezen? Prof. Zoltan Szabolcs and Dr. Kalman Benke
April 15 2023

Wat u vóór en tijdens de zwangerschap bij HTAD moet weten, Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel
April 15 2023

Wat is een acute aortadissectie? Prof. Artur Evangelista
April 15 2023

Wat is een chronische aortadissectie, Prof. Artur Evangelista
April 14 2023

Hoe wordt de aorta gecontroleerd, Dr Gisela Teixido
April 14 2023

Zeven tekenen van het Marfan-Syndrome, Prof Yskert Von Kodolitsch
April 14 2023

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
April 14 2023

3 per week – Het belang van lichaamsbeweging in Marfan en aanverwante erfelijke aortaziektes, Prof. Guillaume Jondeau
April 14 2023

Sport en het syndroom van Marfan, Prof. Guillaume Jondeau
April 14 2023

Marfan syndroom – Diagnose, Prof. Julie De Backer
April 14 2023

Do’s en Don’ts: Ziekte van Rendu-Osler Weber
April 14 2023

Hereditaire haemorrhagische teleangiectasieen van VASCERN HHT
April 14 2023

Een overzicht van HHT, Prof. Claire Shovlin
April 14 2023

Tennivalók és Tévedések: Marfanszindróma és hasonló rendellenességek
April 14 2023

Mi az aortagyök csere és mikor indikált? Prof Zoltan Szabolcs and Dr. Kalman Benke
April 14 2023

Mit kell tudni terhesség előtt és alatt a HTAD-ban , Prof. Jolien Roos-Hesselink and Dr. Yaso Emmanuel
April 14 2023

Mi az akut aorta disszekció? Prof Artur Evangelista
April 14 2023

Mi a krónikus aorta disszekció? Prof Artur Evangelista
April 14 2023

Hogyan vizsgálják az aortát? Dr. Gisela Teixido
April 14 2023

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)
April 14 2023

Pediatric and Primary Lymphedema (PPL) General Patient Pathway V3
April 13 2023

The new version 3 of the General Patient Pathway for Pediatric and Primary Lymphedema.


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
April 06 2023

Τι πρέπει να γνωρίζετε πριν και κατά τη διάρκεια της εγκυμοσύνης στο HTAD, Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel
April 06 2023

Τι είναι ο οξύς αορτικός διαχωρισμός , Prof Artur Evangelista
April 06 2023

Τι είναι ο χρόνιος διαχωρισμός της αορτής; Prof Artur Evangelista
April 06 2023

Επτά σημεία του συνδρόμου Marfan, Prof Yskert Von Kodolitsch
April 06 2023

Πώς παρακολουθείται η αορτή , Dr Gisela Teixido
April 06 2023

Genetisk testning for primær lymfødem – en mors perspektiv
April 06 2023

Rosen Flowchart til Patienter med Lymfødem
April 06 2023

Hudpleje
April 06 2023

Kompression til børn
April 06 2023

Lymfødem – fra et barns synspunkt, Leonor
April 06 2023

Hereditær Hæmorrhagisk Telangiektasi (HHT)
April 06 2023

Oversættelse af Vascern
April 06 2023

En oversigt over HHT, Prof. Claire Shovlin
April 06 2023

Лимфедемът от гледната точка на тийнейджърите
April 06 2023

Лимфедемът от гледна точка на детето, Leonor 8 години
April 06 2023

Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)
March 30 2023

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 ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease
March 30 2023

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.


Primary lymphoedema
March 30 2023

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.


Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
March 30 2023

Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Erratum in: Nat Commun. 2019 Apr 26;10(1):1951. PMID: 26333996; PMCID: PMC4568316.


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


Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
March 30 2023

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.


The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model
March 29 2023

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 Lymphatic Malformations
March 29 2023

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

Featuring Vascular Anomalies Working Group (VASCA-WG) member: Dr Nader Ghaffarpour.

Video in English.


VASCERN Webinar: Diagnostic and Management Pathway for Venous Malformations
March 29 2023

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: Diagnostic and Management Pathway for Severe and/or Rare Infantile Hemangiomas
March 29 2023

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.


VASCERN Webinar: Classification of vascular anomalies
March 29 2023

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.


The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas
March 29 2023

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.


Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations
March 29 2023

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


Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network
March 29 2023

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.


Severe adverse events during sirolimus “off-label” therapy for vascular anomalies
March 29 2023

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.


New and Emerging Targeted Therapies for Vascular Malformations
March 29 2023

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.


The Infantile Hemangioma Referral Score: A Validated Tool for Physicians
March 29 2023

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.


A Clinical Feasibility Study To Image Angiogenesis in Patients With Arteriovenous Malformations Using 68Ga-RGD PET/CT
March 29 2023

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.


RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
March 29 2023

Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula MRASA1 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.


Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
March 29 2023

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.


Development of an international core outcome set for peripheral vascular malformations: the OVAMA project
March 29 2023

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.


Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
March 29 2023

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.


VASCERN Vascular Anomalies (VASCA) Working Group – Statement concerning SARS-CoV-2 Vaccination for Patients with Vascular Malformations
March 29 2023

VASCERN Suonipoikkeavuuksien (VASCA) työryhmä – Tietoa koronaviruksesta (COVID-19) potilaille, joilla on vaikea suonipoikkeavuus
March 29 2023

Information COVID-19 pour les patients porteurs d’ Anomalies Vasculaires et/ou Lymphatiques
March 29 2023

VASCERN Vascular Anomalies (VASCA) Working Group COVID-19 Statement (March 20, 2020)
March 29 2023

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


Management of vascular anomalies in children
March 29 2023

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.


Prise en charge des anomalies vasculaires chez l’enfant
March 29 2023

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)
March 29 2023

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.


Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives
March 28 2023

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.


Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
March 28 2023

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.


Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era
March 28 2023

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.


SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
March 28 2023

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.


A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3
March 28 2023

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.


Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
March 28 2023

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.


Organisation of care for pregnancy in patients with congenital heart disease
March 28 2023

Roos-Hesselink JW, Budts W, Walker F, De Backer JFA, Swan L, Stones W, Kranke P, Sliwa-Hahnle K, Johnson MR. Organisation of care for pregnancy in patients with congenital heart disease. Heart. 2017 Dec;103(23):1854-1859. doi: 10.1136/heartjnl-2017-311758. Epub 2017 Jul 24. PMID: 28739807.


Pregnancy in Women With SMAD3 Mutation
March 28 2023

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.


Arterial tortuosity syndrome: 40 new families and literature review
March 28 2023

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.


European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?
March 28 2023

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.


The European rare disease network for HHT frameworks for management of Hereditary Haemorrhagic Telangiectasia in general and speciality care
March 28 2023

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.


Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
March 28 2023

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)
March 28 2023

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.


Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia
March 28 2023

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.


Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination
March 28 2023

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.


European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
March 28 2023

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.


Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
March 28 2023

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.


Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution
March 28 2023

Dupuis-Girod S, Buscarini E. Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution. Liver Int. 2017 Jun;37(6):928. doi: 10.1111/liv.13385. PMID: 28544692.


The Lung in Hereditary Hemorrhagic Telangiectasia
March 28 2023

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.


Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts
March 28 2023

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.


Executive summary of the 12th HHT international scientific conference
March 28 2023

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.


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


Lymphatic Malformation Patient Pathway (issued 29/04/2020)
March 27 2023

Venous Malformation Patient Pathway (issued 29/04/2020)
March 27 2023

Capillary Malformation Patient Pathway (issued 29/04/2020)
March 27 2023

Severe/Rare Infantile Hemangioma (issued 20/03/2019)
March 27 2023

European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
March 27 2023

Bersano A, Khan N, Fuentes B, Acerbi F, Canavero I, Tournier-Lasserve E, Vajcoczy P, Luisa Zedde M, Hussain S, Lemeret S, Kraemer M, Herve D. European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN). European Stroke Journal. 2023;0(0). doi:10.1177/23969873221144089


Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
March 21 2023

Byers PH, Belmont J, Black J, De Backer JFrank MJeunemaitre 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 Na Wypadek Chorób Rzadkich I Skomplikowanych Schorzeń
March 21 2023

Europejskie Sieci Referencyjne Pomoc Pacjentom Cierpiącym Na Choroby Rzadkie Lub Złożone
March 21 2023

Europejskie Sieci Referencyjne Pomoc Pacjentom Cierpiącym Na Choroby Rzadkie Lub Złożone
March 21 2023

Informationsvideo für Patienten und medizinisches Fachpersonal über ERNs
March 21 2023

ERN Videoclip
March 21 2023

Jak sieć VASCERN może Państwu pomóc?
March 21 2023

Hilfe Für Patienten Mit Seltenen Oder Komplexen Krankheiten
March 21 2023

Hilfe Für Patienten Mit Seltenen Oder Komplexen Krankheiten
March 21 2023

ERN-Videoclip
March 21 2023

Schwere / seltene infantile Hämangiome
March 21 2023

Das Klippel-Trénaunay Syndrom, HEVAS
March 21 2023

Behandlung von lymphatischen Fehlbildung, HEVAS
March 21 2023

Lymphsystem & lymphatische Fehlbildungen, HEVAS
March 21 2023

Multidisziplinäre Expertenteams für Gefäßanomalien, Prof. Leo Schultze Kool
March 21 2023

Management von Gefäßanomalien, Dr. Kristiina Kyrklund
March 21 2023

Diagnostische Ansätze für Gefäßanomalien, Dr. Friedrich Kapp
March 21 2023

Klassifizierung von Gefäßanomalien, Prof. Laurence Boon
March 21 2023

Erysipel Flowchart für Patienten mit Lymphödemen
March 21 2023

Hautpflege
March 21 2023

Kompressionstherapie bei Kindern
March 21 2023

Do’s und Don’ts: Primäres Lymphödem bei Kindern (PPL)
March 21 2023

Lymphödeme aus einer Kinderperspektive, Leonor
March 21 2023

Erysipel beim Kindlichen und Primären Lymphöde, Dr. Vaughan Keeley
March 21 2023

Kompressiostherapie beim kindlichen und primärem Lymphödem, Dr. Kirsten F. van Duinen
March 21 2023

Ein Überblick über das primäre Lymphödem bei Kindern und Erwachsenen
March 21 2023

Unerfüllte medizinische Bedürfnisse beim vaskulären Ehlers-Danlos-Syndrom (vEDS) – Patientenperspektive, Juergen Grunert and Charissa Frank
March 21 2023

Gastrointestinale Komplikationen beim vaskulären Ehlers-Danlos-Syndrom (vEDS), Dr. Salma Adham
March 21 2023

Do’s und Don’ts: Marfan-Syndrom und verwandte Erkrankungen
March 20 2023

Was Sie vor und während der Schwangerschaft in HTAD wissen sollten Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel
March 20 2023

Was ist eine akute Aortendissektion? Prof. Artur Evangelista
March 20 2023

Was ist eine chronische Aortendissektion? Prof. Artur Evangelista
March 20 2023

Was ist ein Aortenwurzelersatz und wann ist er angezeigt? Prof Zoltan Szabolcs and Dr. Kalman Benke
March 20 2023

Sieben Anzeichen eines Marfan-Syndroms, Prof. Yskert von Kodolitsch
March 20 2023

Wie wird die Aorta überwacht, Dr. Gisela Teixido
March 20 2023

Marfan-Syndrom – Diagnose, Prof. Julie De Backer
March 20 2023

Do’s und Don’ts: Hereditäre hämorrhagische Teleangiektasie (HHT)
March 20 2023

Empfehlungen für an seltenen gefässkrankheiten leidenden patienten


Hereditäre hämorrhagische Telangiektasie von VASCERN HHT
March 20 2023

Ein Überblick über HHT, Prof. Claire Shovlin
March 20 2023

Réseaux Européens De Référence Pour Les Maladies Rares, Les Maladies À Faible Prévalence Et Les Maladies Complexes
March 20 2023

Réseaux Européens De Référence Aider Les Patients Souffrant De Maladies Rares Ou Complexes Et À Faible Prévalence
March 20 2023

Réseaux Européens De Référence Aider Les Patients Souffrant De Maladies Rares Ou Complexes Et À Faible Prévalence
March 20 2023

Vidéo d’information sur les ERN à l’intention des patients et des professionnels de la santé
March 20 2023

Clip vidéo ERN
March 20 2023

Comment VASCERN peut-il vous aider ?
March 20 2023

Petit Pierre et la tâche mystérieuse
March 20 2023

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 syndrome de Klippel-Trenaunay, HEVAS
March 20 2023

Le traitement des malformations lymphatiques, HEVAS
March 20 2023

Le système lymphatique et les malformations lymphatiques, HEVAS
March 20 2023

Les approches de diagnostique pour les anomalies vasculaires, Dr. Friedrich Kapp
March 20 2023

L’expertise multi-disciplinaire pour les anomalies vasculaires, Prof. Leo Schultze Kool
March 20 2023

Le management des anomalies vasculaires, Dr. Kristiina Kyrklund
March 20 2023

La classification des anomalies vasculaires, Prof. Laurence Boon
March 20 2023

Soins de la peau
March 20 2023

Organigramme de l’érysipèle pour les patients atteints de lymphoedème
March 20 2023

Compression pour les enfants
March 20 2023

Le lymphoedème, du point de vue de l’enfant, Leonor 8 ans
March 20 2023

L’érysipèle, principale et fréquente complication chez les personnes atteintes de lymphœdème, Dr. Vaughan Keeley
March 20 2023

Aperçu du lymphœdème primaire chez les enfants et les adultes
March 20 2023

Les besoins non satisfaits des patients atteints du syndrome d’Ehlers-Danlos vasculaire (SEDv), Juergen Grunert et Charissa Frank
March 20 2023

Les complications gastro-intestinales dans le syndrome d’Ehlers-Danlos vasculaire (SEDv), Dr. Salma Adham
March 20 2023

Complications artérielles du syndrome d’Ehlers-Danlos vasculaire (SEDv), Dr. Michael Frank
March 20 2023

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)
March 20 2023

Bakoumba
March 20 2023

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.


Ce qu’il faut savoir avant et pendant la grossesse avec HTAD, Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel
March 20 2023

Sept signes du syndrome de Marfan, Prof. Yskert von Kodolitsch
March 20 2023

3 exercices par semaine, l’importance du sport pour les patients Marfan, Prof. Guillaume Jondeau et Lise Murphy
March 20 2023

Le sport et le syndrome de Marfan, Prof. Guillaume Jondeau
March 20 2023

Qu’est-ce qu’une dissection aortique aiguë? By Professor Artur Evangelista
March 20 2023

Le diagnostic du syndrome de Marfan, Prof. Julie De Backer
March 20 2023

Qu’est-ce que le HTAD (heritable thoracic aortic disease), formes familiales de pathologies aortiques thoraciques Prof. Julie De Backer
March 20 2023

Un panorama de la maladie Télangiectasie hémorragique héréditaire, ou de la maladie de Rendu-Osler, Prof. Claire Shovlin
March 20 2023

Redes Europeas De Referencia De Enfermedades Raras, De Baja Prevalencia Y Complejas
March 20 2023

REDES EUROPEAS DE REFERENCIA Ayuda a pacientes con enfermedades raras o complejas
March 20 2023

Redes Europeas De Referencia Ayuda A Pacientes Con Enfermedades Raras O Complejas
March 20 2023

Vídeo informativo para pacientes y profesionales sanitarios sobre los RER
March 20 2023

Videoclip de la RER
March 20 2023

¿Cómo puede ayudarle VASCERN?
March 20 2023

Algoritmo Clinico : Hemangioma infantil severo/raro
March 20 2023

El síndrome de Klippel-Trénaunay, HEVAS
March 20 2023

Tratamiento de los linfangiomas, HEVAS
March 20 2023

El sistema linfático y los linfangiomas, HEVAS
March 20 2023

Equipos multidisciplinares de expertos en Anomalías Vasculares, Prof. Leo Schultze Kool
March 20 2023

Manejo de Anomalías Vasculares, Dr. Kristiina Kyrklund
March 20 2023

Enfoques Diagnósticos para Anomalías Vasculares, Dr. Friedrich Kapp
March 20 2023

Clasificación de las anomalías vasculares, Prof. Laurence Boon
March 20 2023

Linfedema- desde la perspectiva de un niño, Leonor
March 20 2023

Qué hacer y qué no hacer : Síndrome de Marfan y enfermedades relacionadas (HTAD)
March 20 2023

¿Qué es el reemplazo de la raíz aórtica y cuándo está indicado? Prof Zoltan Szabolcs and Dr. Kalman Benke,
March 20 2023

Lo que debe saber antes y durante el embarazo en HTAD Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel,
March 20 2023

¿Qué es una disección aórtica aguda? Prof Artur Evangelista
March 20 2023

¿Qué es una disección aórtica crónica? Prof Artur Evangelista
March 20 2023

Siete signos del sindrome de Marfan. Prof Yskert Von Kodolitsch
March 20 2023

¿Cómo se controla la aorta? Dr Gisela Teixido
March 20 2023

¿Qué son las HTAD? Prof. Julie De Backer
March 20 2023

Deporte y síndrome de Marfan, Prof. Guillaume Jondeau
March 20 2023

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
March 20 2023

Síndrome de Marfan – Diagnóstico, Prof. Julie De Backer
March 20 2023

Qué hacer y qué no hacer: Telangiectasia Hemorrágica Hereditaria (HHT)
March 20 2023

VASCERN HHT surge para ayudar a las personas con Telangiectasia Hemorrágica Hereditaria (HHT)
March 20 2023

Una visión general de HHT, Prof. Claire Shovlin
March 20 2023

Reti Di Riferimento Europee Per Le Malattie Rare, A Bassa Prevalenza E Complesse
March 20 2023

Reti Di Riferimento Europee Aiutare I Pazienti Con Malattie Rare O Complesse E A Bassa Prevalenza
March 20 2023

RETI DI RIFERIMENTO EUROPEE AIUTARE I PAZIENTI CON MALATTIE RARE O COMPLESSE E A BASSA PREVALENZA
March 20 2023

Video informativo per i pazienti e gli operatori sanitari sulle ERN
March 20 2023

Videoclip ERN
March 20 2023

Come può aiutarti VASCERN?
March 20 2023

Percoso Del Paziente: Emangioma Infantile Grave/Raro (VASCA)
March 20 2023

La sindrome di Klippel-Trénaunay, HEVAS
March 20 2023

Trattamento delle malformazioni linfatiche, HEVAS
March 20 2023

Il sistema linfatico e le malformazioni linfatiche, HEVAS
March 20 2023

Team di esperti multidisciplinari per le anomalie vascolari (VASCA- WG Pillole di conoscenza), Prof. Leo Schultze Kool
March 20 2023

Gestione delle anomalie vascolari, Dr. Kristiina Kyrklund
March 20 2023

Approcci diagnostici per le anomalie vascolari, Dr. Friedrich Kapp
March 20 2023

Classificazione delle anomalie vascolari, Prof. Laurence Boon
March 20 2023

Scheda informativa sulla cura della pelle
March 20 2023

Cellulitis Flowchart: L’erisipela nei pazienti con linfedema: diagramma di flusso (IT)
March 20 2023

Children’s Compression Factsheet: I tutori compressivi e i bambini (IT)
March 20 2023

Il linfedema – dalla prospettiva di una bambina, Leonor
March 20 2023

Percoso Del Paziente: Ehlers-Danlos vascolare (vEDS) (MSA)
March 20 2023

Esigenze mediche non soddisfatte nella sindrome vascolare di Ehlers-Danlos (vEDS) – prospettiva dei pazienti, Juergen Grunert e Charissa Frank
March 20 2023

Complicanze gastrointestinali nella sindrome vascolare di Ehlers-Danlos (vEDS), Dr. Salma Adham
March 20 2023

Complicanze arteriose della sindrome vascolare di Ehlers-Danlos (vEDS), Dr. Michael Frank
March 20 2023

Fare e non fare: Sindrome di Marfan e disturbi (HTAD)
March 20 2023

I sette segni della sindrome di Marfan Pr Yskert von Kodolitsch,
March 20 2023

Cos’è la sostituzione della radice aortica e quando è indicata? Prof Zoltan Szabolcs and Dr. Kalman Benke
March 20 2023

Come viene monitorata l’aorta? Dr. Gisela Teixido-Tura
March 20 2023

Cosa è una dissezione aortica cronica? Prof Artur Evangelista
March 20 2023

Cosa è una dissezione aortica acuta? Prof Artur Evangelista
March 20 2023

Cosa sapere prima e durante la gravidanza degli aneurismi e dissecazioni ereditarie dell’aorta toracica (HTAD) Prof Jolien Roos-Hesselink and Dr. Yaso Emmanuel
March 20 2023

Cos’è HTAD? Prof. Julie De Backer
March 20 2023

Sport e sindrome di Marfan, Prof. Guillaume Jondeau
March 20 2023

3 a settimana – L’importanza dell’esercizio fisico per i pazienti con Sindrome di Marfan e malattie toraciche aortiche ereditarie (HTAD), Prof. Guillaume Jondeau
March 20 2023

Sindrome di Marfan – Diagnosi, Prof. Julie De Backer
March 20 2023

Fare e non fare: Teleangectasia emorragica ereditaria (HHT)
March 20 2023

HHT from VASCERN HHT
March 20 2023

Una panoramica di HHT, Prof. Claire Shovlin
March 20 2023

Vascular Ehlers Danlos Syndrome Do’s and Don’ts Factsheets
March 20 2023

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.


Consensus statement for the screening and management of patients with pathogenic ACTA2 variants (November 21, 2019)
March 20 2023

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


VASCERN Hereditary Haemorrhagic Telangiectasia (HHT) Working Group – Statement concerning SARS-CoV-2 vaccination for patients with HHT
March 13 2023

VASCERN Hereditary Haemorrhagic Telangiectasia (HHT) Statement on COVID-19 (March 2020)
March 13 2023

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)
March 13 2023

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. Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364


Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
March 13 2023

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
March 13 2023

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.


Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
March 13 2023

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.


Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination
March 13 2023

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.


Hereditary Haemorrhagic Telangiectasia – Orphanet Encyclopedia for Professionals
March 13 2023

Claire SHOVLIN (UK), Saverio ALICANTE (Italy), Luisa BOTELLA (Spain), Nicky COOTE (UK), Claudia CROCIONE (Italy), Freya DROEGE (Germany), Didier ERASME (France), Anette KJELDSEN (Denmark), David LEFROY (UK), Gennaro Mariano LENATO (Italy), Hans-Jurgen MAGER (The Netherlands), Marco POST (The Netherlands), Carlo SABBÀ (Italy), Patrizia SUPPRESSA (Italy) ; Ulrich SURE (Germany), Pernille TØRRING (Denmark), Sara UGOLINI (Italy), Elisabetta BUSCARINI (Italy), and Sophie DUPUIS-GIROD (France)


European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
March 13 2023

Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791.


Clinical Practice guidelines: Vascular diseases of the liver
March 13 2023

European Association for the Study of the Liver. EASL Clinical Practice Guidelines: Vascular diseases of the liver. J Hepatol. 2016 Jan;64(1):179-202. doi: 10.1016/j.jhep.2015.07.040. Epub 2015 Oct 26. PMID: 26516032.


International guidelines for the diagnosis and management of Hereditary Haemorrhagic Telangiectasia
March 13 2023

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K,Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; J Med Genet. 2011


Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations
March 13 2023

Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, Saurin JC, Pelage JP, Lesca G, Marion MJ, Perna A, Faughnan ME. Liver Int. 2006.


Endoscopic exams
March 13 2023

Aortic dissection in HHT
March 13 2023

Bronchoscopies
March 13 2023

Care for patient with multiple traumatic injuries
March 13 2023

Kidney failure
March 13 2023

Heart failure
March 13 2023

Children’s Compression Factsheet for patients (issue date 20/12/2021)
March 09 2023

Cellulitis Flowchart for Patients with Lymphedema (issue date 01/2022)
March 09 2023

Skin Care Factsheet for Patients (issue date: 21/06/2021)
March 09 2023

Care for patient with traumatic injuries
March 09 2023

Anesthesia
March 09 2023

Operative intervention lymphedematous limb
March 09 2023

Medication and lymphedema
March 09 2023

Pregnancy and Lymphedema
March 09 2023

Pediatric and Primary Lymphedema Do’s and Don’ts
March 09 2023

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


VASCERN Pediatric and Primary Lymphedema (PPL) Working Group – Statement concerning SARS-CoV-2 vaccination for patients with lymphedema
March 09 2023

Loeys-Dietz syndrome Do’s and Don’ts Factsheets
March 09 2023

COVID-19 statement by the Lymphoedema Support Network
March 09 2023

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


PNDS (French National Protocol for care in Rare Disease) for PPL
March 09 2023

Classification and Diagnostic Algorithm for Primary Lymphatic Dysplasia
March 09 2023

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

Supporting documents and clinic information are available here


St. George’s Paediatric Investigation Tool for patients with primary lymphoedema
March 09 2023

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
March 09 2023

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
March 09 2023

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
March 09 2023

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


German Guidelines: Diagnostics and therapy of lymphedema
March 09 2023

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


S2k Leitlinie – Diagnostik und Therapie der Lymphödeme
March 09 2023

German guideline “Diagnostics and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, S2k Leitlinie – Diagnostik und Therapie der Lymphödeme AWMF Reg.-Nr. 058-001, May 2017

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


The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model
March 09 2023

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)


The new V2 version of the General Patient Pathway for Pediatric and Primary Lymphedema (PPL) (issued 21/06/2021)
March 09 2023

Lymphedema from a teenager’s perspective
March 09 2023

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.


Lymphedema from a child’s perspective
March 09 2023

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).


The lymphatic system & lymphatic malformations
March 09 2023

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).


Treatments for lymphatic malformations (Behandelingen voor lymfatische malformaties)
March 09 2023

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

 


The lymphatic system & lymphatic malformations (Lymfestelsel en lymfatische malformaties)
March 09 2023

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


Management of Vascular Anomalies
March 09 2023

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).


Multi-disciplinary Expertise Teams for Vascular Anomalies
March 09 2023

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)


Diagnostic Approaches for Vascular Anomalies
March 09 2023

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).


Classification of Vascular Anomalies
March 09 2023

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 – Breastfeeding
March 09 2023

Pregnancy delivery and postpartum care in vEDS-Delivery
March 09 2023

Medium-Sized Arteries (MSA) Working Group Statement on COVID-19 vaccination for patients with vascular Ehlers-Danlos syndrome (vEDS)
March 03 2023

Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems
March 03 2023

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


Treatment of vascular Ehlers-Danlos syndrome: a systematic review
March 03 2023

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


Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests
March 03 2023

Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child2015 Jan;100(1):57-61


Canadian Cardiovascular Society position statement on the management of thoracic aortic disease
March 03 2023

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.


Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)
March 03 2023

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


Abdominal emergencies in type IV ehlers-Danlos syndrome
March 03 2023

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


Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
March 03 2023

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Byers PH, Belmont J, Black J, De Backer JFrank 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


The Ehlers-Danlos syndromes
March 03 2023

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 & ReCONNET Webinar: Cardiovascular aspects of EDS by Leema Robert and Fransiska Malfait
March 03 2023

VASCERN Webinar: Pregnancy and PGD in Vascular Ehlers Danlos Syndrome
March 03 2023

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.


VASCERN Webinar: On collagen, Ehlers-Danlos Syndromes and vascular fragility: what’s in a name?
March 03 2023

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.


Vascular Ehlers-Danlos syndrome: Introduction and new criteria
March 03 2023

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.


Structure of the Medium-Sized Arteries Working Group (MSA WG) in VASCERN
March 03 2023

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.


VASCERN Webinar: Genetics and Primary Lymphedema
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.


Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu‐Osler‐Weber syndrome)
February 13 2023

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Am J Med Genet 2000.


Hereditary Haemorrhagic Telangiectasia Do’s and Don’ts Factsheets
February 13 2023

Here are all HHT Factsheets in one document


The HHT Patient Pathway (issued 11/07/2017)
February 13 2023

VASCERN Webinar: HHT and Nosebleeds
February 13 2023

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.


VASCERN Webinar: HHT and the lungs
February 13 2023

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.


Hereditary Haemorrhagic Telangiectasia (HHT) is more than a bleeding Nose. What an ENT doctor needs to know about HHT and why
February 13 2023

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.


An Overview of Hereditary Haemorrhagic Telangiectasia
February 13 2023

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).


Hereditary Haemorrhagic Telangiectasia (HHT) from VASCERN HHT-WG
February 13 2023

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).


Declaración de VASCERN HTAD sobre Covid 19
January 03 2023

Stqarrija mill-VASCERN HTAD WG dwar il-COVID-19
January 03 2023

VASCERN Erklärung zu Covid 19
January 03 2023

Déclaration du groupe de travail VASCERN sur les maladies aortiques thoraciques héréditaires (HTAD) sur COVID-19
January 03 2023

VASCERN HTAD verklaring over Covid 19
January 03 2023

VASCERN Heritable Thoracic Aortic Diseases (HTAD) Working Group statement on COVID-19 (March 2020)
January 03 2023

Overview of animal studies in vEDS
January 03 2023

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.


Organisations of services in UK
January 03 2023

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.


Medium sized artery disease in TGF-beta vasculopathies or syndromic aortopathies
January 03 2023

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 3 – Other rarer types of Ehler-Danlos Syndrome (EDS)
January 03 2023

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.


The HTAD Patient Pathway Version 2 (issued 29/08/2019)
January 03 2023

Arterial fragility in other types of Ehlers Danlos Syndrome: Part 2 – Kyphoscoliotic Ehlers-Danlos Syndrome (EDS)
January 03 2023

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.


Arterial fragility in other types of Ehlers Danlos Syndrome: Part 1 – Introduction, Classical Ehlers-Danlos Syndrome (EDS)
January 03 2023

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.


What is an acute aortic dissection? By Professor Artur Evangelista
January 03 2023

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.


Pregnancy in vascular Ehlers-Danlos syndrome (vEDS) – Part 2 – Is In Vitro Fertilisation (IVF) safe in vEDS patients?
January 03 2023

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.


What is chronic aortic dissection? By Professor Artur Evangelista
January 03 2023

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.


Pregnancy in vascular Ehlers-Danlos syndrome (vEDS) – Part 1
January 03 2023

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.


How is the aorta monitored? By Dr. Gisela Teixido-Tura
January 03 2023

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.


Monitoring and Management of vascular Ehlers-Danlos syndrome (vEDS)
January 03 2023

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 is aortic root replacement and when is it indicated? By Professor Zoltan Szabolcs and Dr. Kalman Benke
January 03 2023

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.


What to know before and during pregnancy in HTAD
January 03 2023

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.


Natural history and complications of vascular EDS – Part 2
January 03 2023

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.


Clinical Features and Diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS) – Part 1
January 03 2023

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).


Seven signs of Marfan syndrome by Professor Yskert von Kodolitsch
January 03 2023

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.


Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 3 – Pathogenic variants in COL3A1 : haplo-insufficiency
January 03 2023

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.


Role of patient advocates in a European Reference Network
January 03 2023

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).


Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 2 – Pathogenic variants in COL3A1: dominant negative effect
January 03 2023

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.


What is Heritable Thoracic Aortic Disease (HTAD)?
January 03 2023

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).


Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 1 – Pathogenic variants in COL3A1
January 03 2023

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.


Sport and Marfan syndrome
January 03 2023

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).


3 a week – the importance of exercise in Marfan and related Heritable Thoracic Aortic Diseases (HTAD)
January 03 2023

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).


Gastrointestinal Complications in vascular Ehlers-Danlos Syndrome (vEDS)
January 03 2023

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).


Arterial Complications of Vascular Ehlers-Danlos Syndrome (vEDS)
January 03 2023

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).


Unmet medical needs in vascular Ehlers-Danlos Syndrome (vEDS) – patients perspective
January 03 2023

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).


Marfan Syndrome -Diagnosis by Julie De Backer
January 03 2023

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) Q&A session
January 03 2023

VASCERN Webinar: Aortic surgery in Marfan syndrome (and other HTADs)
January 03 2023

ERN-EYE and VASCERN Joint Webinar – Marfan an update
January 03 2023

Pregnancy, delivery and postpartum care in Marfan Syndrome – Delivery
January 03 2023

Pregnancy delivery and postpartum care in Marfan Syndrome – Delivery
January 03 2023

Pregnancy delivery and postpartum care in vEDS – Pregnancy
January 03 2023

Pregnancy delivery and postpartum care in Marfan Syndrome – Postpartum care
January 03 2023

Pregnancy delivery and postpartum care in Marfan Syndrome – During Pregnancy
January 03 2023

Педиатричен и първичен лимфедем Схема на действие при еризипел за пациенти с лимфедем
January 01 2022

Genetické testovanie primárneho lymfedému – pohľad matky
November 09 2021

Test genetici per il linfedema primario – il punto di vista di una madre
November 09 2021

Pruebas genéticas para el linfedema primario: la perspectiva de una madre
November 09 2021

Genetic Testing for primary lymphedema – a mother’s perspective
November 09 2021

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.


Teste genético para linfedema primário – perspectiva de uma mãe
November 09 2021

Pediatric & Primary Lymphedema Skincare Do’s and Don’ts EN
June 21 2021

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


Medium-Sized Arteries (MSA) Working Group statement on COVID-19
March 03 2020

Poster – European Reference Networks for rare and complex diseases 2019
November 10 2019

Marfan syndrome and Related Disorders Do’s and Don’ts (EN)
May 10 2019

Compression dans le lymphœdème primaire et pédiatrique, Dr. Kirsten F. van Duinen
March 08 2019

Cellulitis / Erysipelas in Pediatric and Primary Lymphedema
March 08 2019

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).


Compression in Pediatric and Primary Lymphedema
March 08 2019

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).


Cellulitis in Pediatrisch en primair lymfoedeem, Dr. Vaughan Keeley
March 08 2019

Information video for patients and healthcare professionals about ERNs
November 27 2018

Information flyer for patients and healthcare professionals 2018
November 21 2018

Patient Pathway for Vascular Ehlers-Danlos Syndrome (EN)
September 28 2018

Medium Sized Arteries Parcours Patient pour le Syndrôme d’ Ehlers-Danlos vasculaire (vEDS) FR
September 28 2018

Pregnancy delivery and postpartum care in Marfan Syndrome – Before Pregnancy
September 17 2018

Do’s & Don’ts: Breast Feeding in Hereditary Hemorrhagic Telangiectasia
September 17 2018

An Overview of Pediatric and Primary Lymphedema
June 19 2018

The video introduces the lymphatic system and gives a brief summary on what exactly is lymphedema. Diagnosis, treatment, and complications are all explained in a clear and understandeable manner, making this video accessible to patients and the general public.

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


ERN videoclip
October 30 2017

Parcours patient: Maladie de Rendu Osler
July 11 2017

Flyer – European Reference Networks for rare and complex diseases 2017
February 28 2017

ERN Brochure 2017
February 28 2017

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