Congenital heart defects in Kabuki syndrome

Maria Cristina Digilio, Bruno Marino, Alessandra Toscano, Aldo Giannotti, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


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 reexamination of patients evaluated by pediatric cardiologists in order to identify mild and still unrecognized cases of KS.

Original languageEnglish
Pages (from-to)269-274
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number4
Publication statusPublished - May 15 2001


  • Aortic coarctation
  • Congenital heart defect
  • Kabuki syndrome
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)


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