An interesting CNV in eight PA-VSD patients and two TOF patients at the 6p21.33 locus was observed as a recurrent rare event, and the gain CNV overlapped the TNXB gene, which was reported to be highly expressed in fetuses and pregnancies with isolated ventricular septal defects (VSD) (Arcelli et al., 2010; Morano et al., 2018). The gene discussed is TNXB; the disease is ventricular septal defect.