In conclusion the finding of a duplication within 8p23.1 half the size of the common duplication in the 8p23.1 duplication syndrome further documents an important pathogenic role of SOX7 and TNKS1. Absence of congenital heart disease is consistent with two copies and thus normal expression of GATA4 in the patient. This evidence concerns the gene GATA4 and congenital heart disease.