The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.

TitleThe spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2006
AuthorsMcMahon CJ, Reardon W
JournalCardiology in the young
Volume16
Issue1
Pagination30-3
Date Published2006 Feb
Abstract

We investigated the prevalence and forms of congenitali cardiac malformations in six children with Kabuki syndrome. There were three girls and three boys, diagnosed at a mediani age of 1.7 years, with a range from 0.7 to 11.1 years. Cardiac lesions were present in five children (83%), specifically complete transposition, tetralogy of Falloti, coarctationi of the aortai, ventricular septal defecti, and patency of the arterial duct. Characteristic dysmorphic findings were noted in all patients, as well as a strong predisposition to severe problems with feeding in the neonatal period, and developmental delay. Cardiologists should be alert to this syndrome in children who present with the aforementioned constellation of findings, as patients with mild expression of Kabuki syndrome may go unrecognized for a considerable time.

Alternate JournalCardiol Young
Citation Key16454874