Aims The present study aims to characterize the genetic risk architecture of bicuspid aortic
valve (BAV) disease, the most common congenital heart defect. Methods and results We
carried out a genome-wide association study (GWAS) including 2236 BAV patients and 11
604 controls. This led to the identification of a new risk locus for BAV on chromosome 3q29.
The single nucleotide polymorphism rs2550262 was genome-wide significant BAV
associated (P= 3.49× 10− 08) and was replicated in an independent case–control sample …

… The present study aims to characterize the genetic risk architecture of bicuspid aortic
valve (BAV) disease, the most common congenital heart defect. … We, thus, cannot exclude
the possibility that we have also identified genetic risk factors that influence the occurrence
of BAV complications rather than its development. In addition, our study did not allow the
identification of rare genetic risk factors contributing to BAV. We, thus, could not examine the
contribution of the previously described rare risk variants in DHX38 and MYH6. Large …