Congenital heart defects in Kabuki syndrome

Am J Med Genet. 2001 May 15;100(4):269-74. doi: 10.1002/ajmg.1265.


Kabuki makeup (Niikawa-Kuroki) syndrome (KS) is characterized by distinct facial anomalies, mental retardation, congenital heart defect (CHD), and skeletal malformations. In the present study we analyze cardiac characteristics and differences in sex prevalence of specific CHDs in our series of patients with KS and review published reports from the literature. Between January 1992 and February 2000, 60 patients (37 males and 23 females) with KS underwent phenotypic and cardiac evaluations at our hospital. CHD was diagnosed in 35 (58%) of our patients. Aortic coarctation (COA) (23%), atrial septal defect (ASD) (20%), and ventricular septal defect (VSD) (17%) were the most frequent CHDs in our series and in previous reports from the literature. Male preponderance was noted in patients with COA. In conclusion, CHD is a cardinal feature of KS. There is an overlap between cardiac malformations of KS and those of Turner syndrome. Male preponderance in patients with KS and COA supports the hypothesis that genes located on the X chromosome may be involved in determining KS in some patients. The high prevalence of CHD prompts accurate re-examination of patients evaluated by pediatric cardiologists in order to identify mild and still unrecognized cases of KS.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cytogenetic Analysis
  • Face / abnormalities
  • Female
  • Heart Defects, Congenital* / genetics
  • Humans
  • Infant
  • Intellectual Disability
  • Male
  • Sex Characteristics
  • Syndrome