Genes for Thoracic Aortic Aneurysms and Dissection: Implications for Gene Management (Dr. Milewicz)

This talk reviews the genetic basis of thoracic aortic aneurysms and acute aortic dissections, with emphasis on how gene-specific information directly guides clinical management. Dr. Milewicz explains how pathogenic variants in genes such as FBN1, TGFBR1/2, SMAD3, ACTA2, MYH11, and PRKG1 influence disease presentation, age of onset, associated vascular phenotypes, and thresholds for prophylactic repair. She highlights that different mutations within the same gene can produce markedly different severity, from childhood-onset aggressive disease to late-onset or incompletely penetrant disease. The lecture also addresses familial screening, precision medicine, gene-based surgical timing, and the importance of collecting international outcome data through the Montalcino Aortic Consortium to refine risk prediction and treatment guidelines. KEY LEARNING CONCEPTS • Thoracic aortic aneurysm and dissection are often heritable and may occur even in patients without obvious syndromic features • Gene-specific and variant-specific data can guide surveillance, timing of surgery, and screening for associated vascular disease • Mutations in TGF-beta pathway genes and smooth muscle contractile genes produce distinct clinical phenotypes and risks • ACTA2 and PRKG1 mutations are associated with dissections at smaller aortic diameters and may warrant earlier intervention • First-degree relatives of affected patients should be screened, and genetic testing is essential in patients with early-onset disease, family history, or syndromic findings FOR MORE INFORMATION HM Academic Institute: https://www.houstonmethodist.org/acad... For the latest education and training opportunities from DeBakey CV Education: http://bit.ly/HMdebakeyemail Follow Us: DeBakey CV Education Homepage https://www.houstonmethodist.org/acad... DeBakey CV Education Facebook   / about   DeBakey CV Education X https://x.com/DeBakeyCVedu/ DeBakey CV Education LinkedIn   / debakey-cv-education   DeBakey CV Edu Instagram   / debakeycvedu   Want concise, relevant reviews of the hottest topics in CV medicine? Subscribe for FREE to the Methodist DeBakey Cardiovascular Journal for quarterly, peer-reviewed issues delivered to your door. https://journal.houstonmethodist.org/