Vascular Anomalies (VASCA-WG)

Research Publications

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 of publications from the Vascular Anomalies Working Group (VASCA-WG) to help researchers and healthcare professionals stay up-to-date on the latest developments in the field.

Results (24)
























Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN‑VASCA
May 22 2024

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


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.


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.


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.


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


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.


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.


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


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.


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.


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


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.


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.


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.


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