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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Acidosis / genetics
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Adult
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Cardiomegaly / congenital
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Cardiomegaly / genetics
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Cardiomyopathies / congenital*
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Cardiomyopathies / genetics*
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Citrate (si)-Synthase / deficiency
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Citrate (si)-Synthase / genetics
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Cytochrome-c Oxidase Deficiency / genetics*
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Echocardiography
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Electron Transport / genetics
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Female
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Fetal Diseases / genetics
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Humans
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Hypertension, Pulmonary / congenital*
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Hypertension, Pulmonary / genetics*
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Infant, Newborn
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Lactates / metabolism
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Male
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Muscle, Skeletal / pathology
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Phenotype
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Pregnancy
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Ultrasonography, Prenatal
Substances
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Lactates
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Citrate (si)-Synthase