title: Congenital heart defects in Kabuki syndrome.
abstract: BACKGROUND
  Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations.
  
  
  METHODS
  Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenital heart defects in the patients 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/aortic dilation and septal defects were the fi rst two types of anomalies, accounting up to 46.1% and 32.9%, 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 of congenital 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 warranted surgical repair of the heart defects. Patients with KS require close follow-up in terms of their etiology, clinical presentations and long-term prognosis.
authors.affiliation: The First Hospital of Putian, Teaching Hospital, Fujian Medical University, Putian, Fujian Province, China. shi_min_yuan@yahoo.com.
authors.forename: Shi-Min
authors.initials: SM
authors.lastname: Yuan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology; D000367:Age Factors; D006348:Cardiac Surgical Procedures; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000601:surgery; D006402:Hematologic Diseases / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D012307:Risk Factors; D016896:Treatment Outcome; D015837:Vestibular Diseases / Q000175:diagnosis / Q000453:epidemiology