Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection

U Spiekerkoetter; T Tenenbaum; A Heusch; U Wendel

doi:10.1007/s00246-002-0277-2

Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection

Pediatr Cardiol. 2003 May-Jun;24(3):295-7. doi: 10.1007/s00246-002-0277-2. Epub 2002 Dec 4.

Authors

U Spiekerkoetter¹, T Tenenbaum, A Heusch, U Wendel

Affiliation

¹ Department of Pediatrics, Heinrich Heine University Hospital, Moorenstrasse 5, 40225 Duesseldorf, Germany.

PMID: 12457256
DOI: 10.1007/s00246-002-0277-2

Abstract

Pericardial effusion and cardiomyopathy in the first year of life point to a fatty acid b-oxidation defect as underlying disease after exclusion of infectious causes. We report two patients with the early-onset, cardiac phenotype of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency; in one patient, severe pericardial effusion was the predominating symptom. Because specific noninvasive treatment is available in fatty acid b-oxidation defects that reverses cardiomyopathy and pericardial effusion, early diagnosis is essential to adjust therapy accordingly.

Publication types

Case Reports

MeSH terms

Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
Acyl-CoA Dehydrogenase, Long-Chain / metabolism*
Cardiomyopathies / diagnostic imaging
Cardiomyopathies / diet therapy
Cardiomyopathies / etiology*
Echocardiography
Fatty Acids / metabolism
Humans
Infant
Lipid Metabolism, Inborn Errors / complications*
Lipid Metabolism, Inborn Errors / diagnosis
Lipid Metabolism, Inborn Errors / diet therapy*
Lipid Metabolism, Inborn Errors / enzymology
Pericardial Effusion / diagnostic imaging
Pericardial Effusion / diet therapy
Pericardial Effusion / etiology*
Triglycerides / therapeutic use

Substances

Fatty Acids
Triglycerides
Acyl-CoA Dehydrogenase, Long-Chain