European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of
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(2019) 14:264
POSITION STATEMENT
Open Access
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants Ingrid M. B. H. van de Laar1,2*, Eloisa Arbustini2,3, Bart Loeys2,4,5, Erik Björck2,6, Lise Murphy7, Maarten Groenink2,8, Marlies Kempers5, Janneke Timmermans5, Jolien Roos-Hesselink1,2, Kalman Benke2,9, Guglielmina Pepe2,10, Barbara Mulder8, Zoltan Szabolcs9, Gisela Teixidó-Turà11, Leema Robert2,12, Yaso Emmanuel2,12, Arturo Evangelista11, Alessandro Pini2,13, Yskert von Kodolitsch2,14, Guillaume Jondeau2,15,16 and Julie De Backer2,17
Abstract The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic aneurysm and/ or dissection is the main clinical manifestation, a variety of occlusive vascular disease and extravascular manifestations occur in ACTA2-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits. Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in ACTA2 have not yet been established. We aimed to develop a consensus document to provide medical guidance for health care professionals involved in the diagnosis and treatment of patients and relatives with pathogenic variants in ACTA2. The HTAD Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) convened to review current literature and discuss expert opinions on clinical management of ACTA2 related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines. Keywords: Thoracic aortic aneurysm, Aortic disease, Dissection, Genetics, Expert testimony
* Correspondence: [email protected] 1 Department of Clinical Genetics and Cardiology and VASCERN HTAD European Reference Centre, Erasmus MC, University Medical Center Rotterdam, Wytemaweg 80, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands 2 VASCERN HTAD European Reference Centre, Ghent, Belgium Full list of author information is available at the end of the article © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedicat
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