Missense mutation in CRELD1 gene, mapping on cr3p, has been described in the context of familial AVCD [128, 129] as well as mutations in PTPN11 [117],GATA4 [130] and the p93 gene, mapping on chromosome 1 p [131]. This evidence concerns the gene PTPN11 and familial atrioventricular septal defect.