Interestingly, a recent study identified mutations in Nephronophthisis-4 (NPHP4), a cilia related gene, and linked them to a variety of cardiac laterality defects such as transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), double outlet right ventricle (DORV), dextrocardia and abnormal pulmonary venous return. This evidence concerns the gene NPHP4 and familial atrioventricular septal defect.