[Frontiers in Bioscience E4, 1706-1716, January 1, 2012]
Mitochondrial DNA related cardiomyopathies
Shamayel Mohammed1,2, Wesam Bahitham1, Alicia Chan3, Brian Chiu 1, Fiona Bamforth 1, Consolato Sergi1-4
1Department of Lab. Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada, 2Department of Lab. Medicine and Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia,3Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada,4 Institute of Pathology, Medical University of Innsbruck, Innsbruck, Austria
TABLE OF CONTENTS
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).