Article
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
Orphanet journal of rare diseases - 21 Nov 2019
van de Laar Ingrid M B H, Arbustini Eloisa, Loeys Bart, Björck Erik, Murphy Lise, Groenink Maarten, Kempers Marlies, Timmermans Janneke, Roos-Hesselink Jolien, Benke Kalman, Pepe Guglielmina, Mulder Barbara, Szabolcs Zoltan, Teixidó-Turà Gisela, Robert Leema, Emmanuel Yaso, Evangelista Arturo, Pini Alessandro, von Kodolitsch Yskert, Jondeau Guillaume, De Backer Julie
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.