1. Clinical effectiveness of genetic testing guidelines in patients with thoracic aortic aneurysms.
- Author
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Erez E, Acuna Higaki AR, Cupo M, Phu TA, Verma S, Assi R, and Vallabhajosyula P
- Abstract
Objective: To analyze the effectiveness of the current genetic testing guidelines for patients with thoracic aortic aneurysms., Methods: We 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)., Results: In 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%)., Conclusions: Refining 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., Competing Interests: Conflict of Interest Statement The authors reported no conflicts of interest. The Journal policy requires editors and reviewers to disclose conflicts of interest and to decline handling or reviewing manuscripts for which they may have a conflict of interest. The editors and reviewers of this article have no conflicts of interest., (Copyright © 2024 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
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