BackgroundThe p120-ctn protein, encoded byCTNND1, is involved in intercellular connections and regulates epithelial–mesenchymal transformation.CTNND1mutations can lead to blepharocheilodontic syndrome (BCDS). Increasing evidence shows that although BCDS mainly manifests as craniofacial and oral deformities, it can also present as congenital heart disease, limb deformities, and neurodevelopmental disorders.Case descriptionWe report a prenatal case of a major cardiac malformation at 24+3weeks of gestation. Ultrasound examination revealed a hypoplastic left ventricular, aortic coarctation, and a ventricular septal defect. Genetic analysis of the fetal tissues showed the presence of a novel mutation inCTNND1(NM_001085458.2: c.566_c.567insG; p.Pro190fs*15), which may lead to premature termination of protein coding, while both the parents harbored wild-typeCTNND1. To date, only 15CTNND1mutations have been reported in 19 patients worldwide, of which approximately 31% (6/19) had a cardiac phenotype.ConclusionTo the best of our knowledge, this is the first case report of fetal complicated cardiac malformations caused by thisCTNND1mutation. Our findings provide new clinical references for prenatal diagnosis and suggest an important role forCTNND1in early cardiac development.