The Genetics of Inheritable Aortic Diseases

AbstractPurpose of ReviewOver the past 2 decades, our understanding of the role of genetics in the development and progression of aortic disease has grown considerably. This review serves as a foundational text for the reader to gain a thorough understanding of the basics of this emerging field while also displaying the latest breakthroughs which have had, and will continue to have, important impacts on clinical decision-making and patient outcomes. This review focuses on aneurysmal disease, arguably the richest subgroup of aortic diseases for genetic research.Recent FindingsThoracic aortic aneurysm and dissection (TAAD) is driven primarily by genetic factors. Genetic variants which drive TAAD tend to occur in genes involved in the structure and function of the aortic wall, specifically the extracellular matrix, TGF- β pathway, and smooth muscle cell contractile units. At least 37 gene variants (pathological or of unknown significance) have been found to be directly associated with the development of TAAD, independent of traditional cardiovascular (CV) risk factors such as smoking and hypertension. The standard suggestion for definitive treatment is prophylactic surgery at an aortic diameter of 5.0–5.5 cm, but several gene variants have been shown to dissect commonly at much smaller diameters (such as TGFβR1/2 or ACTA2), and so mutation-specific guidelines are leading to earlier surgery and better pat ient outcomes in these aggressive cases.Abdominal aortic aneurysms (AA...
Source: Current Cardiovascular Risk Reports - Category: Cardiology Source Type: research