Thoracic aortic aneurysm gene dictionary

Abstract

Thoracic aortic aneurysm is typically clinically silent, with a natural history of progressive enlargement until a potentially lethal complication such as rupture or dissection occurs. Underlying genetic predisposition strongly influences the risk of thoracic aortic aneurysm and dissection. Familial cases are more virulent, have a higher rate of aneurysm growth, and occur earlier in life. To date, over 30 genes have been associated with syndromic and non-syndromic thoracic aortic aneurysm and dissection. The causative genes and their specific variants help to predict the disease phenotype, including age at presentation, risk of dissection at small aortic sizes, and risk of other cardiovascular and systemic manifestations. This genetic "dictionary" is already a clinical reality, allowing us to personalize care based on specific causative mutations for a substantial proportion of these patients. Widespread genetic sequencing of thoracic aortic aneurysm and dissection patients has been and continues to be crucial to the rapid expansion of this dictionary and ultimately, the delivery of truly personalized care to every patient.