Mitochondrial Fatty Acid Oxidation Disorders Associated with Cardiac Disease

Abstract

To elucidate the role metabolic pathways have on pathophysiological mechanisms involving the heart, it is essential to understand how biochemical pathways influence pathophysiology, clinical findings, and treatment. In this review, we focus on fatty acid oxidation disorders that affect the heart. We enumerate the defects that arise from each step of fatty acid oxidation leading to cardiomyopathy, conduction defects, arrhythmias, and sudden death. With the advent of newborn screening, careful interpretation of diagnostic findings and early treatment, morbidity, and mortality associated with these conditions have significantly decreased. However, treatment of the energy defect alone is not enough. New potential therapies and pathobiological mechanisms will be mentioned. Mitochondrial fatty acid oxidation disorders associated with energy defects leading to cardiac disease are reviewed (clinical, biochemical findings and treatment); while highlighting the biochemical pathways involved in the pathophysiology of these disorders.