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

Published online by Cambridge University Press:  03 February 2006

Colin J. McMahon  and
William Reardon
Colin J. McMahon
Affiliation:
Department of Pediatric Cardiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
William Reardon
Affiliation:
National Genetics Unit, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
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Abstract

We investigated the prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome. There were three girls and three boys, diagnosed at a median 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 Fallot, coarctation of the aorta, ventricular septal defect, 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.

Keywords

Geneticstranspositionventricular septal defect
Type
Original Article
Information
Cardiology in the Young , Volume 16 , Issue 1 , January 2006 , pp. 30 - 33
Copyright
© 2006 Cambridge University Press

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