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. Here, GJA8 is linked to ventricular septal defect 1.