Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Abstract

Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit from both cardiology and genetic evaluations, including genetic testing. Important information can be obtained through family history, medical history, and genetic testing to help guide management and assess risk. A genetic diagnosis can guide cardiovascular management (type and frequency of vascular imaging, timing of surgical intervention), risk assessment for arterial aneurysm/dissection, evaluation of nonvascular features, and familial testing.

Keywords: Aortic aneurysm; Aortic dissection; Genetic counseling; Heritable thoracic aortic disease (HTAD); Marfan.