title: Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
abstract: Biventricular hypertrophy was noted at 24 weeks' gestation in a fetus with isolated cytochrome-c oxidase (COX) deficiency. Shock, caused by hypertrophic cardiomyopathy and severe pulmonary hypertension, led to the patient's death on day 6. His phenotype defines a new lethal variant of COX deficiency characterized by prenatal-onset cardiopulmonary pathophysiology.
authors.affiliation: Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
authors.forename: C P
authors.initials: CP
authors.lastname: Venditti
authors.forename: M C
authors.initials: MC
authors.lastname: Harris
authors.forename: D
authors.initials: D
authors.lastname: Huff
authors.forename: I
authors.initials: I
authors.lastname: Peterside
authors.forename: D
authors.initials: D
authors.lastname: Munson
authors.forename: H S
authors.initials: HS
authors.lastname: Weber
authors.forename: J
authors.initials: J
authors.lastname: Rome
authors.forename: E M
authors.initials: EM
authors.lastname: Kaye
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: Sacconi
authors.forename: S
authors.initials: S
authors.lastname: Tay
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: G T
authors.initials: GT
authors.lastname: Berry
mesh_terms: D000138:Acidosis / Q000235:genetics; D000328:Adult; D006332:Cardiomegaly / Q000151:congenital / Q000235:genetics; D009202:Cardiomyopathies / Q000151:congenital* / Q000235:genetics*; D002950:Citrate (si)-Synthase / Q000172:deficiency / Q000235:genetics; D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics*; D004452:Echocardiography; D004579:Electron Transport / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000151:congenital* / Q000235:genetics*; D007231:Infant, Newborn; D007773:Lactates / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D007773:Lactates; D002950:Citrate (si)-Synthase