Heritable Component for Bicuspid Aortic Valve and Thoracic Aortic Disease?

Heritable Component for Bicuspid Aortic Valve and Thoracic Aortic Disease?

Is there a heritable component for bicuspid aortic valve disease and thoracic aortic disease including aneurysm and dissection? So it seems, from a study published in Circulation from the University of Utah School of Medicine [1]. The study included a huge database of 3, 812, 588 unique individuals! From the database they identified probands with a diagnosis of bicuspid aortic valve, thoracic aortic aneurysm or thoracic aortic dissection. Age and sex matched controls in the ratio 10:1 were identified for each proband. They also identified first degree relatives, second degree relatives and first cousins of the probands and controls through linked genealogical information.

First degree relatives of those with bicuspid aortic valve, thoracic aortic aneurysm and thoracic aortic dissection were found to have an elevated risk of concordant diagnosis compared to controls. In addition, the risk of aortic dissection was higher in first degree relatives of those with bicuspid aortic valve or thoracic aortic aneurysm, compared to controls. Risk of aortic dissection was highest in the first degree relatives of those who had both bicuspid aortic valve and aneurym. First degree relatives of those with bicuspid aortic valve, thoracic aortic aneurysm or aortic dissection had a higher risk of aortic specific mortality compared to controls. Authors mentioned that their study provides supportive evidence for screening relatives of patients with bicuspid aortic valve, thoracic aortic aneurysm or dissection.

Reference

1. Glotzbach JP, Hanson HA, Tonna JE, Horns JJ, McCarty Allen C, Presson AP, Griffin CL, Zak M, Sharma V, Tristani-Firouzi M, Selzman CH. Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database. Circulation. 2023 Jun 15. doi: 10.1161/CIRCULATIONAHA.122.060439. Epub ahead of print. PMID: 37317837.