GATA6 gene mutations have been reported in familial and isolated CHD patients in different ethnic populations, including atrial septal defect, atrioventricular septal defect, persistent truncus arteriosus, tetralogy of Fallot and ventricular septal defect (VSD) [16,17,18,19,20,21,22,23,24,25]. This evidence concerns the gene GATA6 and ventricular septal defect.