In addition, mutations of GJA5 were also detected in patients with arrhythmias.[23] And dosage alterations of GJA5 might be responsible for cardiomyopathy.[15] As the flanking gene of GJA5, the abnormal expression of GJA8 (OMIM: 600897) has also been correlated with congenital heart disease (CHD).[14,15,25] In addition, GJA8 was associated with eye abnormalities and schizophrenia.[9,26] We speculated that the duplications of GJA5 and GJA8 might be responsible for the occurrence of ventricular septal defect in case 2. This evidence concerns the gene GJA5 and ventricular septal defect 1.