Subsequently, genetic variations in human GATA5 were associated with several CHDs, including aortic stenosis, pulmonary stenosis, double outlet right ventricle, tetralogy of Fallot (TOF), bicuspid aortic valve, ventricular septal defect (VSD), and atrial septal defect (ASD) [32,34]. The gene discussed is GATA5; the disease is conotruncal heart malformations.