Accordingly, GATA4 is important in the differentiation of cardiomyocytes; and known pathogenic variants in GATA4 contribute to developmental heart defects including atrial septal defect, ventricular septal defect, atrioventricular septal defect, and tetralogy of Fallot [10, 11]. The gene discussed is GATA4; the disease is familial atrioventricular septal defect.