GATA4 and familial atrioventricular septal defect: Point mutations in these genes were associated with different types of CHDs, specifically atrial and ventricular septal defects for TBX5; atrial and ventricular septal defects, pulmonary stenosis, or pulmonary atresia and atrioventricular septal defects for GATA4; and outflow tract defects (double-outlet right ventricle, transposition of great arteries, and tetralogy of Fallot) and atrial and ventricular septal defects for NKX2-5, respectively [17].