Infant with cardiomyopathy: When to suspect inborn errors of metabolism?
- PMID: 25429327
- PMCID: PMC4244612
- DOI: 10.4330/wjc.v6.i11.1149
Infant with cardiomyopathy: When to suspect inborn errors of metabolism?
Abstract
Inborn errors of metabolism are identified in 5%-26% of infants and children with cardiomyopathy. Although fatty acid oxidation disorders, lysosomal and glycogen storage disorders and organic acidurias are well-known to be associated with cardiomyopathies, emerging reports suggest that mitochondrial dysfunction and congenital disorders of glycosylation may also account for a proportion of cardiomyopathies. This review article clarifies when primary care physicians and cardiologists should suspect inborn errors of metabolism in a patient with cardiomyopathy, and refer the patient to a metabolic specialist for a further metabolic work up, with specific discussions of "red flags" which should prompt additional evaluation.
Keywords: Cardiomyopathy; Inborn errors of metabolism; Inherited metabolic disorders.
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