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Home - Clinical Trials and Research - Research Publications
Clinical Trials and Research

Research Publications

Scientific research plays a crucial role in advancing medical knowledge and improving patient outcomes. Through the collaboration of experts in the field of rare vascular diseases, VASCERN aims to enhance the understanding of these complex conditions, improve diagnosis and management, and ultimately develop more effective treatments.

Our publications cover a wide range of topics, including the latest research on diagnostic tools, innovative therapies, and management strategies for rare vascular diseases. This page provides a list our publications across all our working groups to help researchers and healthcare professionals stay up-to-date on the latest developments in the field.

You can choose from the research tool below to read research publications by our Rare Disease Working Groups.

Results (71)


































Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants
February 14 2024

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


The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema
December 23 2023

Devoogdt N, Thomis S, Belva F, Dickinson-Blok J, Fourgeaud C, Giacalone G, Karlsmark T, Kavola H, Keeley V, Marques ML, Mansour S, Nissen CV, Nørregaard S, Oberlin M, Ručigaj TP, Somalo-Barranco G, Suominen S, Van Duinen K, Vignes S, Damstra R. The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema. Eur J Med Genet. 2023 Dec 23;67:104905. doi: 10.1016/j.ejmg.2023.104905. Epub ahead of print. PMID: 38143023.


Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: Long-term results of endoscopic treatment
December 15 2023

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


Nonfunctional TGF-β/ALK1/ENG signaling pathway supports neutrophil proangiogenic activity in hereditary hemorrhagic telangiectasia
November 24 2023

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


The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function
November 14 2023

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


High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia
November 13 2023

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


Preliminary results of the European multicentric phase III VASE trial regarding sirolimus in slow-flow vascular malformations
November 10 2023

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


There is insufficient evidence to lower the threshold for prophylactic aortic surgery
November 04 2023

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


Unraveling the Role of TGFβ Signaling in Thoracic Aortic Aneurysm and Dissection Using Fbn1 Mutant Mouse Models
September 06 2023

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


Health-related quality of life in children with congenital vascular malformations
September 04 2023

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


Pediatric vascular anomalies in Austria. Where are we at? A survey among primary care pediatricians
August 17 2023

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


Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis
June 10 2023

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


A case report of sirolimus use in early fetal management of lymphatic malformation
June 05 2023

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


Progression of initially unilateral Moyamoya angiopathy in Caucasian Europeans
June 01 2023

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


Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study
May 04 2023

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


Multimodality imaging in thoracic aortic diseases: a clinical consensus statement from the European Association of Cardiovascular Imaging and the European Society of Cardiology working group on aorta and peripheral vascular diseases
April 24 2023

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


Magnitude and relevance of change in health-related quality of life in patients with vascular malformations treated with sirolimus
April 20 2023

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


Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
April 17 2023

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


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

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


Clinical phenotype of adolescent and adult patients with extracranial vascular malformation
April 06 2023

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


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.


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.


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.


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.


The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations
March 23 2023

Dompmartin, A., Baselga, E., Boon, L. M., Diociaiuti, A., Dvorakova, V., El Hachem, M., Gasparella, P., Haxhija, E., Ghaffarpour, N., Kyrklund, K., Irvine, A. D., Kapp, F. G., Rößler, J., Salminen, P., van den Bosch, C., van der Vleuten, C., Schultze Kool, L., & Vikkula, M. (2023). The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous MalformationsJournal of vascular anomalies4(2), e064. https://doi.org/10.1097/JOVA.0000000000000064


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


Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies
March 14 2023

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


Outcome after surgical treatment of venous malformations of the hand in childhood
March 10 2023

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


Clinical differences in sirolimus treatment with low target levels between children and adults with vascular malformations – A nationwide trial
February 23 2023

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


European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
February 02 2023

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


Complex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines
January 27 2023

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


HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
November 29 2022

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


Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)
October 13 2022

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


The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations
October 09 2022

Ghaffarpour, N., Baselga, E., Boon, L. M., Diociaiuti, A., Dompmartin, A., Dvorakova, V., El Hachem, M., Gasparella, P., Haxhija, E., Kyrklund, K., Irvine, A. D., Kapp, F. G., Rößler, J., Salminen, P., van den Bosch, C., van der Vleuten, C., Kool, L. S., & Vikkula, M. (2022). The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformationsEuropean journal of medical genetics65(12), 104637. https://doi.org/10.1016/j.ejmg.2022.104637


Phenotype of COL3A1/COL5A2 deletion patients
August 11 2022

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


Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
June 30 2022

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


Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations
June 10 2022

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


The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas
April 27 2022

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


The ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease
April 20 2022

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


Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study
April 12 2022

Demolder, A., Bianco, L., Caruana, M., Cervi, E., Evangelista, A., Jondeau, G., Buttigieg, L. L., López-Sainz, Á., Delmás, E. M., Pini, A., Sabaté-Rotés, A., Szöcs, K., Tchitchinadze, M., Teixidó-Tura, G., von Kodolitsch, Y., Muiño-Mosquera, L., & De Backer, J. (2022). Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort studyEuropean journal of medical genetics65(6), 104503. https://doi.org/10.1016/j.ejmg.2022.104503


Primary lymphoedema
October 21 2021

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


Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network
September 30 2021

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


Severe adverse events during sirolimus “off-label” therapy for vascular anomalies
February 13 2021

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


New and Emerging Targeted Therapies for Vascular Malformations
June 15 2020

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


Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
May 14 2020

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


The Infantile Hemangioma Referral Score: A Validated Tool for Physicians
April 01 2020

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


A Clinical Feasibility Study To Image Angiogenesis in Patients With Arteriovenous Malformations Using 68Ga-RGD PET/CT
September 13 2019

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


Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study
April 15 2019

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


Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome
November 26 2018

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. Genet Med. 2019 Jul;21(7):1568-1575. doi: 10.1038/s41436-018-0356-2. Epub 2018 Nov 26. PMID: 30474650.


The 2017 international classification of the Ehlers-Danlos syndromes
March 17 2017

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. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229.


Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients
November 04 2016

Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. PMID: 27582382.


Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
September 03 2015

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.


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