GATA4 and GATA5 variants have been identified in association with ASD, AVSD, BAV, DORV, PS, TOF, and VSD malformations [6,7,45,49], ASD, AVSD, BAV, DORV, TOF, and VSD [45,49,63], respectively. This evidence concerns the gene GATA4 and familial atrioventricular septal defect.