• Ely Erez, Acuna HigakiAdrian RARDivision of Cardiac Surgery, Department of Surgery, Yale School of Medicine, New Haven, Conn., Michela Cupo, Tuan Anh Phu, Shiv Verma, Roland Assi, and Prashanth Vallabhajosyula.
• Division of Cardiac Surgery, Department of Surgery, Yale School of Medicine, New Haven, Conn.
• J. Thorac. Cardiovasc. Surg. 2024 Sep 23.

ObjectiveTo analyze the effectiveness of the current genetic testing guidelines for patients with thoracic aortic aneurysms.MethodsWe evaluated genetic tests for thoracic aortic disease (TAD) from 2012 to 2023 in patients aged 18 and older with a thoracic aorta diameter greater than 4 cm. Mutation rates were compared by American College of Cardiology/American Heart Association testing criteria met by patients: age younger than 60 years, syndromic features of connective tissue diseases (CTDs), family history, or none. Results were classified as pathogenic, variants of uncertain significance (VUS), or negative. Genes tested were analyzed in 2 categories: primary (strongly associated with heritable diseases) or secondary (less strongly associated).ResultsIn total, 1034 patients were included: 42.4% aged younger than 60 years, 19.1% with syndromic features of CTD, 41.8% with family history, and 30.7% meeting no criteria. Overall, 3.97% had pathogenic mutations, and 27.27% had VUS. Mutation rates were greatest in patients with syndromic features of CTD (13.2%), followed by patients aged younger than 60 years (5.48%), with a family history (4.63%), and with no criteria met (2.21%). Primary genes had pathogenic mutation rates of 3.29% and VUS rates of 12.19%. Secondary genes had lower pathogenic rates (0.68%) but greater VUS (17.5%). Mutation rates in primary genes peaked at 22% in patients meeting all criteria, whereas those younger than 60 years without family history or syndromic features of CTD had the lowest rate (0.54%).ConclusionsRefining genetic testing guidelines to incorporate multiple patient criteria could enhance risk stratification and support informed decision-making in genetic testing for TAD. Limiting testing to genes strongly associated with TAD could lower VUS rates.Copyright © 2024 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

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