Yehya et al. 2006 indicated that NFATC1 might be a ventricular septal defect (VSD) susceptibility gene. A 44kb duplication in intron-6 was identified more among patients with symptoms of cardiovascular disease, including pulmonary stenosis (PS), tricuspid atresia (TA), and VSD. Notably, among 81 healthy patients, no one exhibited homozygosity for this duplication; two patients with VSD exhibited homozygosity. Three other related asymptomatic patietns also exhibited homozygosity. Heterozygous individuals included 34 unaffecteds, 15 with PS, 8 with TA, 9 with VSD, and 30 asymptomatic relatives. Homozygous individuals lacking the duplication involved 47 unaffecteds, 10 with PS, 4 with TA, 10 with VSD, and 33 asymptomatic relatives.