What Cardiologists Should Know About the Genetics of Thoracic Aortic Aneurysms
Guest: David Deyle, M.D.
Host: Kyle Klarich, M.D.
Thoracic aortic aneurysms can have an underlying genetic cause that affects patient management, surveillance, surgical decision-making, and family screening. In this episode, listeners will learn when to consider genetic testing and clinical genomics consultation for patients with thoracic aortic disease, including those with suspected Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and other familial aortopathies. The discussion also explores how to interpret genetic test results and variants of uncertain significance, the importance of family history and clinical phenotype, and how a genetic diagnosis can guide surveillance and treatment decisions.
Topics discussed:
• When should clinicians consider genetic testing for thoracic aortic aneurysms and other aortic diseases?
• How can genetic findings influence aortic surveillance, surgical intervention, and screening of family members?
• How should positive and negative genetic test results and variants of uncertain significance be interpreted?
• What roles do family history, clinical phenotype, and age play in evaluating inherited thoracic aortic disease?
• When should cardiologists involve clinical genomics in patient care?