Document Detail


Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
MedLine Citation:
PMID:  15505378     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
C P Venditti; M C Harris; D Huff; I Peterside; D Munson; H S Weber; J Rome; E M Kaye; S Shanske; S Sacconi; S Tay; S DiMauro; G T Berry
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  27     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2004  
Date Detail:
Created Date:  2004-10-26     Completed Date:  2005-05-05     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  735-9     Citation Subset:  IM    
Affiliation:
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
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MeSH Terms
Descriptor/Qualifier:
Acidosis / genetics
Adult
Cardiomegaly / congenital,  genetics
Cardiomyopathies / congenital*,  genetics*
Citrate (si)-Synthase / deficiency,  genetics
Cytochrome-c Oxidase Deficiency / genetics*
Echocardiography
Electron Transport / genetics
Female
Fetal Diseases / genetics
Humans
Hypertension, Pulmonary / congenital*,  genetics*
Infant, Newborn
Lactates / metabolism
Male
Muscle, Skeletal / pathology
Phenotype
Pregnancy
Ultrasonography, Prenatal
Grant Support
ID/Acronym/Agency:
NS11766/NS/NINDS NIH HHS; P01HD32062/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Lactates; EC 2.3.3.1/Citrate (si)-Synthase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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