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Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.

Jason P GlotzbachHeidi A HansonJoseph E TonnaJoshua J HornsChelsea McCarty AllenAngela P PressonClaire L GriffinMegan ZakVikas SharmaMartin Tristani-FirouziCraig H Selzman
Published in: Circulation (2023)
Our results indicate that BAV and thoracic aortic disease carry a significant familial association for concordant disease and aortic dissection. The pattern of familiality is consistent with a genetic cause of disease. Furthermore, we observed higher risk of aortic-specific mortality in relatives of individuals with these diagnoses. This study provides supportive evidence for screening in relatives of patients with BAV, thoracic aneurysm, or dissection.
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