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.