Background: Kabuki syndrome (KS) is an entity of multiple congenital malformations withmental retardation with undetermined etiology. Congenital heart defects are one of the clinicalmanifestations of KS with insuffi cient elucidations.Methods: Literature of congenital heart defects associated with KS was comprehensivelyretrieved, collected and reviewed. The clinical features of the congenital heart defects in thepatients with KS were summarized.Results: Congenital heart defects were one of the clinical manifestations of KS with 90.6%of the patients being diagnosed prenatally or at an early age. Left-sided obstructions/aorticdilation and septal defects were the fi rst two types of anomalies, accounting up to 46.1% and32.9%, respectively. The most common congenital heart defects were coarctation of the aorta,and atrial and ventricular septal defects. Fifteen (19.7%) patients received surgical repair ofcongenital heart defects at a mean age of 0.8 ± 1.3 years.Conclusions: Congenital heart defects are one of the clinical manifestations of KS with 90.6%of the patients being diagnosed prenatally or at an early age. About 20% of the patients warrantedsurgical repair of the heart defects. Patients with KS require close follow-up in terms oftheir etiology, clinical presentations and long-term prognosis
