Congenital heart defects in Kabuki syndrome.

TitleCongenital heart defects in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2001
AuthorsDigilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B
JournalAmerican journal of medical genetics
Date Published2001 May 15

Kabuki makeup (Niikawa-Kuroki) syndrome (KS) is characterized by distinct facial anomalies, mental retardation, congenitali 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 coarctationi (COA) (23%), atrial septal defect (ASD) (20%), and ventricular septal defecti (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 cardinali feature of KS. There is an overlap between cardiac malformations of KS and those of Turner syndromei. Male preponderance in patients with KS and COA supports the hypothesis that genesi located on the X chromosomei 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.

Alternate JournalAm. J. Med. Genet.
Citation Key11343317