title: Left ventricular noncompaction and coronary artery fistula in an infant with deletion 22q11.2.
abstract: This report describes an infant presenting with deletion 22q11.2 in combination with left ventricular noncompaction and a coronary artery fistula. These two cardiac findings have rarely been reported in association with each other and have never been reported together in combination with deletion 22q11.2. The reported case demonstrates the expanding cardiac phenotype of individuals with deletion 22q11.2, suggesting that it may be appropriate to offer studies for the detection of deletion 22q11.2 to individuals with a wide range of structural cardiac defects.
authors.affiliation: Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
authors.forename: Heather
authors.initials: H
authors.lastname: Branton
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Warren
authors.forename: Lynette S
authors.initials: LS
authors.lastname: Penney
mesh_terms: D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003324:Coronary Artery Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003330:Coronary Vessel Anomalies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003331:Coronary Vessels / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D014463:Ultrasonography; D016157:Vascular Fistula / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology