A new publication entitled A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 has just been published in The American Journal of Human Genetics (AJHG) and is co-authored by two members of our Heritable Thoracic Aortic Diseases Working Group (HTAD WG), Professor Bart Loeys and Dr.…
A new collaborative research paper entitled Pregnancy outcome in thoracic aortic disease data from the Registry Of Pregnancy And Cardiac disease has been published in Heart. It is co-authored by members of the VASCERN Heritable Thoracic Aortic Diseases Working Group (HTAD-WG) including Prof. Julie De Backer (Chair of HTAD-WG, Prof. Guillaume Jondeau…
A new review article entitled New and Emerging Targeted Therapies for Vascular Malformations has just been published in the American Journal of Clinical Dermatology. It is co-authored by Vascular Anomalies Working Group (VASCA WG) Chairs Professors Miikka Vikkula and Laurence Boon along with members of their Healthcare Provider (HCP) at…
A new article entitled Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis has just been published in the Journal of Medical Genetics. Five of the authors are members of the Pediatric and Primary Lymphedema Working Group (PPL WG), including…
A new collaborative publication by members of the Heritable Thoracic Aortic Diseases Working Group (HTAD WG) has just been published in the Journal of Clinical Medicine. It is entitled Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome and is co-authored by HTAD WG Chair, Prof. Julie De Backer,…
A new collaborative research paper entitled A Clinical Feasibility Study To Image Angiogenesis in Patients With Arteriovenous Malformations Using 68Ga‐RGD PET/CT has just been published in the Journal of Nuclear Medicine. It is co-authored by members of the Vascular Anomalies Working Group (VASCA WG) including Chairs, Prof Miikka Vikkula and Prof Laurence Boon,…
The Hereditary Hemorrhagic Telangiectasia Working Group (HHT WG) has just published an article entitled Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia in the Orphanet Journal of Rare Diseases. It is equally co-authored by one member of EuroBloodNet. This publication examined the safety of three direct oral…
A new article entitled RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation has recently been published in the Journal of Medical Genetics. It is co-authored by members of the VASCERN Vascular Anomalies Working Group (VASCA WG) including Prof. Miikka Vikkula, Prof. Laurence Boon, Prof. Alan Irvine and Dr. Veronika…
A new collaborative publication entitled Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics has just been published in the European Journal of Preventive Cardiology. It is co-authored by members of the VASCERN Heritable Thoracic Aortic Diseases Working Group (HTAD-WG) including Prof. Julie De Backer (Chair of HTAD-WG) and Prof. Guillaume Jondeau (Co-Chair of HTAD-WG), Prof. Bart…
A new publication, co-authored by Dr. Michael Frank (Medium-Sized Arteries Working Group (MSA-WG) Co-Chair), Prof. Xavier Jeunemaitre and Dr. Salma Adham (members of the MSA WG) and entitled Vascular Ehlers-Danlos syndrome: Long-Term Observational study, has recently been published in the Journal of the American College of Cardiology. Vascular Ehlers-Danlos syndrome (vEDS)…
