Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management

Abstract

Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and dissections. The diagnosis and management of this heterogenous patient population continues to evolve. Last year, the American Heart Association/American College of Cardiology Joint Committee published diagnosis and management guidelines for aortic disease, which included those with genetic aortopathies. Additionally, evolving research studying the implications of underlying genetic aberrations with new genetic testing continues to become available. In this review, we evaluate the current literature surrounding the diagnosis and management of heritable thoracic aortic disease, as well as novel therapeutic approaches and future directions of research.

Keywords: Aortic aneurysm; Aortic dissection; Genetic aortopathy; Genetic arteriopathy; Heritable thoracic aortic disease; Vascular surgery.