Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

ABSTRACT: Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging progressively until dissection or rupture occurs. Since the discovery almost 20 years ago that ascending TAAs are highly familial, our understanding of the genetics of thoracic aortic aneurysm and dissection (TAAD) has increased exponentially. At least 29 genes have been shown to be associated with the development of TAAD, the majority of which encode proteins involved in the extracellular matrix, smooth muscle cell contraction or metabolism, or the transforming growth factor-β signaling pathway. Almost one-quarter of TAAD patients have a mutation in one of these genes. In this review, we provide a summary of TAAD-associated genes, associated clinical features of the vasculature, and implications for su

SUBMITTER: Brownstein AJ 

PROVIDER: S-EPMC5570562 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature