GATA4 and familial atrioventricular septal defect: Pathogenic GATA4 variants are associated with ASD, VSD, AVSD, pulmonary stenosis (PS), and TOF (Garg et al., 2003; Okubo et al., 2004; Hirayama-Yamada et al., 2005; Sarkozy et al., 2005; Tomita-Mitchell et al., 2007).