Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.

ABSTRACT: Bicuspid aortic valve (BAV) is the most common congenital heart malformation and predisposes to thoracic aortic aneurysms. The Montalcino Aortic Consortium (MAC) registry collects genetic and phenotypic data on individuals with heritable thoracic aortic disease genes (HTAD PVs) that primarily regulate smooth muscle cell contraction or TGF-β signaling (TGF-β PVs, termed Loeys-Dietz Syndrome (LDS)). We evaluated associations between BAV, HTAD PVs and aortic outcomes in the MAC cohort. BAV was present in 48 (6%) of 816 MAC participants (age 38 [IQR 20-52] years, 51% female) and was not significantly increased in males or in the entire TGF-β PV group (417 with TGF-β PVs, p=0.14) but was enriched in participants with TGFBR1 or TGFBR2 PVs (16/168, 10% vs. 32/648, 5%, PR 1.93 [1.08,

SUBMITTER: Asokan KL 

PROVIDER: S-EPMC12676545 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature