Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection.
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.
Spiekerkoetter
U
U
Department of Pediatrics, Heinrich Heine University Hospital, Moorenstrasse 5, 40225 Duesseldorf, Germany.
Tenenbaum
T
T
Heusch
A
A
Wendel
U
U
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000378:metabolism*; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000178:diet therapy / Q000209:etiology*; D004452:Echocardiography; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000178:diet therapy* / Q000201:enzymology; D010490:Pericardial Effusion / Q000000981:diagnostic imaging / Q000178:diet therapy / Q000209:etiology*; D014280:Triglycerides / Q000627:therapeutic use
D005227:Fatty Acids; D014280:Triglycerides; D044942:Acyl-CoA Dehydrogenase, Long-Chain