Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

ABSTRACT: Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect, and its complications (namely, dilatation of the thoracic ascending aorta) raise concerns regarding the proper timing of aortic surgery. The study aim is to unravel the genetic basis of BAV and its complications through a high-throughput sequencing (HTS) approach and segregation analysis if family members were available. Methods: Fifty-two Italian BAV patients were analyzed by HTS using the Illumina MiSeq platform. Targeted sequencing of 97 genes known to be or plausibly associated with connective tissue disorders or aorthopathy was performed. Thirty-five first-degree relatives of N = 10 probands underwent mutational screening for variants identified in the index cases. Results: HTS ide

SUBMITTER: Sticchi E 

PROVIDER: S-EPMC12785301 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature