title: Biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency.
abstract: We report a baby girl with an antenatal diagnosis of biventricular non-compaction and complete heart block detected at 22 weeks' gestation. Postnatal echocardiography confirmed severe biventricular non-compaction hypertrophic cardiomyopathy, multiple muscular ventricular septal defects, and mild-moderate pulmonary valve stenosis. Skeletal muscle biopsy confirmed complex 1 mitochondrial respiratory chain deficiency. An epicardial VVI pacemaker was implanted on day 3 of life and revised at 7 years of age. She remains stable at 8 years of age following pacing and medical treatment with carvedilol, aspirin, co-enzyme Q10, and carnitine. This represents the first report of biventricular non-compaction hypertrophic phenotype in association with congenital complete heart block and complex 1 mitochondrial respiratory chain deficiency in a child.
authors.affiliation: 1Department of Paediatric Cardiology,Our Lady's Hospital for Sick Children,Crumlin,Dublin,Ireland.
authors.forename: Ranjana
authors.initials: R
authors.lastname: Dhar
authors.affiliation: 2National Centre for Medical Genetics,Our Lady's Hospital for Sick Children,Crumlin,Dublin,Ireland.
authors.forename: William
authors.initials: W
authors.lastname: Reardon
authors.affiliation: 1Department of Paediatric Cardiology,Our Lady's Hospital for Sick Children,Crumlin,Dublin,Ireland.
authors.forename: Colin J
authors.initials: CJ
authors.lastname: McMahon
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000628:therapy; D004452:Echocardiography; D004562:Electrocardiography; D042967:Electron Transport Complex I / Q000172:deficiency*; D005260:Female; D006327:Heart Block / Q000175:diagnosis* / Q000628:therapy; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000628:therapy; D010138:Pacemaker, Artificial
chemical_list: D042967:Electron Transport Complex I
keywords: Left ventricular non-compaction; complex 1 mitochondrial respiratory enzyme deficiency; congenital heart block; hypertrophic cardiomyopathy; pacemaker