title: A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage.
abstract: This report describes the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava. The child underwent successful Norwood and Glenn palliative procedures. At the age of 9 months, the genetic condition was recognized. This represents the first report describing this combination of findings for Kabuki syndrome.
authors.affiliation: Department of Paediatric Cardiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, 12, Ireland. raveenshahdadpuri@yahoo.com
authors.forename: Raveen
authors.initials: R
authors.lastname: Shahdadpuri
authors.forename: Sally Ann
authors.initials: SA
authors.lastname: Lynch
authors.forename: H
authors.initials: H
authors.lastname: Murchan
authors.forename: Colin J
authors.initials: CJ
authors.lastname: McMahon
mesh_terms: D005260:Female; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D007231:Infant, Newborn; D011667:Pulmonary Veins / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome; D014463:Ultrasonography; D054079:Vascular Malformations / Q000150:complications / Q000000981:diagnostic imaging*