Previously, 65% of reported cases with CHD4 mutations had heart defects, including atrial septal defect, ventricula septal defect, pulmonary stenosis/anomaly, patent ductus arteriosus, tetralogy of fallot, mitral valve anomaly, ebstein anomaly, and truncus arteriosus.21 The gene discussed is CHD4; the disease is Tetralogy of Fallot.