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Mitochondrial Fatty Acid Oxidation Disorders Associated with Cardiac Disease

  • Pathobiology of Orphan Diseases (S Ranganathan, Section Editor)
  • Published:
Current Pathobiology Reports

Abstract

Purpose of Review

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.

Recent Findings

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.

Summary

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.

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Authors and Affiliations

  1. Children’s Hospital of Pittsburgh, Department of Pediatrics, Division of Medical genetics, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA

    Areeg El-Gharbawy

  2. Children’s Hospital of Pittsburgh, Department of Pediatrics, Division of Child Neurology, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA

    Amy Goldstein

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El-Gharbawy, A., Goldstein, A. Mitochondrial Fatty Acid Oxidation Disorders Associated with Cardiac Disease. Curr Pathobiol Rep 5, 259–270 (2017). https://doi.org/10.1007/s40139-017-0148-4

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