We were the first to suggest that point mutations in GATA4 were linked to pulmonic valve stenosis when we reported a disease-segregating mutation in GATA4 in a large family that displayed autosomal dominant fully penetrant cardiac septal defects along with partially penetrant congenital pulmonic valve stenosis (Garg et al., 2003). The gene discussed is GATA4; the disease is Pulmonic stenosis.