The Journal of Cardiovascular Surgery 2021 Mar 18

DOI: 10.23736/S0021-9509.21.11816-6

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: English

Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care

Dianna M MILEWICZ ✉, Dong-Chuan GUO, Ellen HOSTETLER, Isabella MARIN, Amélie C. PINARD, Alana CECCHI

Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA

Genetic variation plays a significant role in predisposing individuals to thoracic aortic aneurysms and dissections. Advances in genomic research have led to the discovery of 11 genes validated to cause heritable thoracic aortic disease (HTAD). Identifying the pathogenic variants responsible for aortic disease in affected patients confers substantial clinical utility by establishing a definitive diagnosis to inform tailored treatment and management, and enables identification of at-risk relatives to prevent downstream morbidity and mortality. The availability and access to clinical genetic testing has improved dramatically such that genetic testing and gene-based management is considered an integral part of the evaluation and care for patients with thoracic aortic disease. This review will provide an update on our current understanding of the genetic basis of thoracic aortic disease, practical recommendations for genetic testing, and clinical implications.

KEY WORDS: Genetic; Aortic dissection; Aortic disease; Heritable; Genetic testing