A CASZ1 missense mutation p.L38P has been identified in a family with congenital ventricular septal defect (VSD) (Huang et al., 2016), and a CASZ1 nonsense mutation p.K351X has been identified to be associated with DCM (Qiu et al., 2017). The gene discussed is CASZ1; the disease is familial dilated cardiomyopathy.