Genetics of Thoracic and Abdominal Aortic Diseases : Aneurysms, Dissections, and Ruptures

Abstract

Dissections or ruptures of aortic aneurysms remain a leading cause of death in the developed world, with the majority of deaths being preventable if individuals at risk are identified and properly managed. Genetic variants predispose individuals to these aortic diseases. In the case of thoracic aortic aneurysm and dissections (TAD), genetic data can be used to identify some at risk individuals and dictate management of the associated vascular disease. For abdominal aortic aneurysms (AAAs), genetic associations have been identified, which provide insight on the molecular pathogenesis but cannot be used clinically yet to identify individuals at risk for AAAs. This compendium will discuss our current understanding of the genetic basis of TAD and AAA disease. While both diseases share several pathogenic similarities, including proteolytic elastic tissue degeneration and smooth muscle dysfunction, they also have several distinct differences, including population prevalence and modes of inheritance.