IMR Press / FBE / Volume 4 / Issue 5 / DOI: 10.2741/e491

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.


Mitochondrial DNA related cardiomyopathies

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1 Department of Lab. Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada
2 Department of Lab. Medicine and Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
3 Stollery Children’s Hospital, University of Alberta, Edmonton, Alberta, Canada
4 Institute of Pathology, Medical University of Innsbruck, Innsbruck, Austria

*Author to whom correspondence should be addressed.

Academic Editor: Consolato Sergi

Front. Biosci. (Elite Ed) 2012, 4(5), 1706–1716;
Published: 1 January 2012
(This article belongs to the Special Issue Progresses in heart failure diagnosis and treatment)

Cardiomyopathies are a heterogeneous group of diseases characterized by impaired heart muscle function. Over the last few years, interest in mitochondrial cardiomyopathies has been galvanized by a number of significant molecular biology discoveries. There is overwhelming evidence that genetic factors play a pivotal role in the pathogenesis of primary cardiomyopathies. Mitochondrial cardiomyopathy is a cardiomyopathy in which the clinical and pathological phenotype result from mitochondrial diseases due to pathogenic mutation in both mitochondrial and/or nuclear genes causing defects in the oxidative phosphorylation system (OXPHOS) in cardiac muscle. We review and provide an update of the current concepts, molecular genetics, clinical features, pathology, diagnostic modalities, and latest therapeutic options in mitochondrial cardiomyopathies specifically caused by mutations in the mitochondrial DNA (mtDNA).

Genetic defects
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