Pediatric cardiomyopathies related to fatty acid metabolism

Inborn errors of metabolism affecting the fatty acid ß-oxidation pathway lead to cardiomyopathy, arrhythmia, and sudden death. In this article, an overview of the clinical presentations, diagnosis, treatment, and long-term outcome is provided with an emphasis on cardiovascular manifestations. With the expanded newborn screening program, these patients are coming to clinical attention earlier and the opportunity for pre-symptomatic intervention exists. It is important that clinicians are familiar with the clinical presentation, diagnostic evaluation, and management of this clinically heterogeneous group of disorders.