Research shows that IRX4 variants can lead to the suppression of myosin heavy chain gene expression, resulting in abnormal gene expression and ventricular cardiac hypertrophy, closely related to heart development [12–14], IRX4 variants can cause cardiac insufficiency and cardiomyopathy of congenital heart disease, especially the occurrence of ventricular septal defect with potential influence [15]. The gene discussed is IRX4; the disease is ventricular septal defect.