Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

ABSTRACT: Bicuspid aortic valve (BAV) is the most common congenital heart lesion with an estimated population prevalence of 1%. We hypothesize that specific gene variants predispose to early-onset complications of BAV (EBAV). We analyzed whole-exome sequences (WESs) to identify rare coding variants that contribute to BAV disease in 215 EBAV-affected families. Predicted damaging variants in candidate genes with moderate or strong supportive evidence to cause developmental cardiac phenotypes were present in 107 EBAV-affected families (50% of total), including genes that cause BAV (9%) or heritable thoracic aortic disease (HTAD, 19%). After appropriate filtration, we also identified 129 variants in 54 candidate genes that are associated with autosomal-dominant congenital heart phenotypes, including rec

SUBMITTER: Mansoorshahi S 

PROVIDER: S-EPMC11480851 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature