What Cardiologists Should Know About the Genetics of Thoracic Aortic Aneurysm

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? 0:00 Genetics of Thoracic Aortic Disease 1:21 When to Refer for Genetic Testing 3:50 Age, Family History and Testing Yield 7:21 How Genetic Results Change Patient Care 11:00 Understanding Genetic Testing Results 13:34 Follow-Up and Variant Reclassification 15:26 In-Person Exams and Virtual Follow-Up 18:05 Limitations and Expectations of Genetic Testing 20:04 Pretest Probability and Family Screening 21:28 Clinical Genomics in Aortopathy Care 23:34 Finding Cardiovascular Genetics Expertise 25:24 Continuing Cardiovascular Education at Mayo Clinic