Genetic Causes of Thoracic Aortic Aneurysm: A Review.

Thoracic aortic aneurysm (TAA) is an important cause of cardiovascular morbidity and mortality. TAA may occur due to inheritable genetic variants affecting the TGFβ signaling cascade, the extracellular matrix, or smooth muscle contraction, which are essential to maintain connective tissue homeostasis and vascular wall integrity. In this review, we summarize the available evidence on the genetics of thoracic aortic aneurysm including known syndromic and non-syndromic hereditary thoracic aortic disorders, the increasingly recognized role of polygenic risk, and the association of TAA with other arteriopathies. We also discuss the evolving role of genetic testing for patients with TAA. A better understanding of genetic predictors for TAA has the potential to improve screening, risk stratification, and the medical and surgical management for this patient population.