title: The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.
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.
authors.affiliation: Department of Pediatric Cardiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. colin.mcmahon@olhsc.ie
authors.forename: Colin J
authors.initials: CJ
authors.lastname: McMahon
authors.forename: William
authors.initials: W
authors.lastname: Reardon
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D015995:Prevalence; D013577:Syndrome