The same mutation has been reported previously in three CHD patients.34,35 The patient also carries a private mutation in exon 18 of MYH6, a 2165G>A transition (V700M).29 Two clinically normal sons are both heterozygous for the GATA4 mutation but do not carry the MYH6 mutation. The gene discussed is GATA4; the disease is coronary artery disorder.