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 surgical treatment of TAAD. With the widespread use of next-generation sequencing and development of novel functional assays, the future of the genetics of TAAD is bright, as both novel TAAD genes and variants within the genes will continue to be identified.
Highlights
Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging progressively until dissection or rupture occurs
At least 29 genes have been shown to be associated with the development of thoracic aortic aneurysm and dissection (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
We provide a summary of TAAD-associated genes, associated clinical features of the vasculature, and implications for surgical treatment of TAAD
Summary
TAAD, early aortic dissection*, CAD, stroke (moyamoya disease), PDA, pulmonary artery dilation, BAV [6, 9]. Meester-Loeys syn- ARD, TAAD, pulmonary Standard X-linked 300989 drome artery aneurysm, IA, arterial tortuosity [34]. EDS, arthrochalasia Borderline aortic root Standard AD + AR 130060 type (VIIb) + cardiac enlargement [9, 35]. EDS, classic type (I) ARD, rupture/dissection Standard AD of medium-sized arteries [39,40,41]
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