The analysis data showed that patients also carried variants in genes associated with AVSD (e.g., COL11A1, DNAH11, GATA4, LRP2, MYH6, NFATC1, NKX2-6, NOTCH1, SRCAP, TBX1, and ZFPM2), TGA (e.g., COL11A1, GDF1, LRP2, MYH6, and TBX1), or hypoplastic left heart (e.g., LRP2, MYBPC3, MYH6, and NOTCH1). Here, TBX1 is linked to familial atrioventricular septal defect.