In humans, variants in GATA4 (MIM# 600576) were first identified in patients with congenital heart disease (CHD) including Atrial ventricular septal defects (AVSD) (Garg et al., 2003; Rajagopal et al., 2007) and Tetralogy of Fallot (TOF)(Zhang et al., 2008). The gene discussed is GATA4; the disease is congenital heart disease.