Consequently, NOTCH1 variants were identified as a cause of congenital BAV, CAVD and aortic aneurhysma; the causative role of NOTCH1 and several other genes linked to the NOTCH1 signaling cascade, such as DLL1 and JAGGED1, with congenital cardiovascular pathologies has been reported [16]. This evidence concerns the gene NOTCH1 and congenital bilateral aplasia of vas deferens from CFTR mutation.