Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University ◇ Hokkaido, Japan
Mitochondrial cardiomyopathy is characterized by an oxidative phosphorylation (OXPHOS) disorder due to genetic mutations in genes encoding the structure and function of myocardial mitochondria. Mutations in both mitochondrial and nuclear DNA can cause mitochondrial cardiomyopathy, and it is typically recognized as one of the generalized manifestations of neurological and metabolic disorders. Cardiomyopathy, however, can be the only phenotype of mitochondrial disease and is often misdiagnosed. Cardiac manifestations vary from asymptomatic to catastrophic heart failure or sudden death. Although recent evolution in genetic testing has allowed for the identification of the causative gene, tissue sampling to identify an OXPHOS disorder is still regarded as the gold standard for diagnosis.
Key words: mitochondrial cardiomyopathy; oxidative phosphorylation (OXPHOS); mitochondrial DNA; respiratory chain complex
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