For example, in the case of atrial septal defect (ASD) and ventricular septal defect (VSD), candidate genes can be counted: NKX2-5, GATA4, TBX20, MYH6, and TBX5, while the pathogenesis of atrioventricular septal defect (AVSD) involves genes, such as PTPN11, KRAS, SOS1, RAF1, and CRELD1. This evidence concerns the gene TBX5 and familial atrioventricular septal defect.