In the present study, we report, to the best of our knowledge, the first instance of the prenatal diagnosis of major CHD, characterized by an apex-forming hypoplastic left ventricle, aortic coarctation, and a ventricular septal defect, in a fetus with a novel CTNND1 mutation (p.Pro190fs*15) that could be etiologic. This evidence concerns the gene CTNND1 and ventricular septal defect.