Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm.

ABSTRACT: Aortic dissection is a catastrophic event that has a high mortality rate. Thoracic aortic aneurysms are the clinically silent precursor that confers an increased risk of acute aortic dissection. There are several gene mutations that have been identified in key structural and regulatory proteins within the aortic wall that predispose to thoracic aneurysm formation. The most common and well characterised of these is the FBN1 gene mutation that is known to cause Marfan syndrome. Others less well-known mutations include TGF-β1 and TGF-β2 receptor mutations that cause Loeys-Dietz syndrome, Col3A1 mutations causing Ehlers-Danlos Type 4 syndrome and Smad3 and-4, ACTA2 and MYHII mutations that cause familial thoracic aortic aneurysm and dissection. Despite the variation in the proteins affected by

SUBMITTER: Robertson E 

PROVIDER: S-EPMC5425748 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature