Open AccessUpdate on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care
Author(s) -
Dianna M. Milewicz,
Dongchuan Guo,
Ellen M. Hostetler,
Isabella Marin,
Amélie Pinard,
Alana C. Cecchi
Publication year - 2021
Publication title -
the journal of cardiovascular surgery/journal of cardiovascular surgery
Language(s) - English
Resource type - Journals
eISSN - 1827-191X
pISSN - 0021-9509
DOI - 10.23736/s0021-9509.21.11816-6
Subject(s) - medicine , thoracic aortic aneurysm , disease , genetic testing , aortic aneurysm , acute aortic syndrome , aortic repair , intensive care medicine , radiology , cardiology , aortic dissection , aneurysm , aorta
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 is considered an integral part of the clinical evaluation for patients with thoracic aortic disease. This review provides an update on our current understanding of the genetic basis of thoracic aortic disease, practical recommendations for genetic testing, and clinical implications.