GATA4 and familial atrioventricular septal defect: Genetic alterations of GATA4, especially single nucleotide polymorphisms (SNPs), have been linked to CHDs in the human population, associations being made with atrial septal defects (ASDs), ventricular septal defects, atrioventricular septal defects, tetralogy of Fallot, pulmonary stenosis, and pulmonary atresia [46,47,48,49,50].