Document Detail


Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
MedLine Citation:
PMID:  17912479     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive defect of the electron transfer flavoprotein or ubiquinone oxidoreductase, resulting in abnormal fatty acid, amino acid, and choline metabolism, leading to metabolic acidosis, hypoglycemia, "sweaty-feet" odor, and early neonatal deaths. This report presents a child diagnosed with this disease at birth by newborn screening using the mass spectrometer, who died suddenly at the age of 6 months. The echocardiogram revealed pericardial effusion, thickened ventricular musculature, and insufficiency of both the atrio-ventricular valves. The autopsy showed immense cardiomegaly, fatty infiltration, and hypertrophy of the ventricles. This is the first detailed case report of clinico-pathological correlation of MADD in an infant and brings into light a rare form of cardiomyopathy as a differential diagnosis in critically ill patients.
Authors:
Mohit Singla; Grace Guzman; Andrew J Griffin; Saroja Bharati
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-10-03
Journal Detail:
Title:  Pediatric cardiology     Volume:  29     ISSN:  0172-0643     ISO Abbreviation:  Pediatr Cardiol     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-03-14     Completed Date:  2008-07-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003849     Medline TA:  Pediatr Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  446-51     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Illinois-College of Medicine, 840 S. Wood St., Chicago, IL 60612, USA.
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MeSH Terms
Descriptor/Qualifier:
Biological Markers / metabolism
Cardiomyopathies / diagnosis,  enzymology,  etiology*
Diagnosis, Differential
Echocardiography
Fatal Outcome
Humans
Infant
Male
Multiple Acyl Coenzyme A Dehydrogenase Deficiency / complications*,  diagnosis,  metabolism
Myocardium / pathology*
Radiography, Thoracic
Chemical
Reg. No./Substance:
0/Biological Markers

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


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