Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management

Tex Heart Inst J. 2013;40(4):385-94.


Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop consequent to mutations in nuclear or mitochondrial DNA. The prevalence of inherited mitochondrial disease has been estimated to be greater than 1 in 5,000 births; however, the diagnosis and treatment of this disease are not taught in most adult-cardiology curricula. Because mitochondrial diseases often occur as a syndrome with resultant multiorgan dysfunction, they might not immediately appear to be specific to the cardiovascular system. Mitochondrial cardiomyopathy can be described as a myocardial condition characterized by abnormal heart-muscle structure, function, or both, secondary to genetic defects involving the mitochondrial respiratory chain, in the absence of concomitant coronary artery disease, hypertension, valvular disease, or congenital heart disease. The typical cardiac manifestations of mitochondrial disease--hypertrophic and dilated cardiomyopathy, arrhythmias, left ventricular myocardial noncompaction, and heart failure--can worsen acutely during a metabolic crisis. The optimal management of mitochondrial disease necessitates the involvement of a multidisciplinary team, careful evaluations of patients, and the anticipation of iatrogenic and noniatrogenic complications. In this review, we describe the complex pathophysiology of mitochondrial disease and its clinical features. We focus on current practice in the diagnosis and treatment of patients with mitochondrial cardiomyopathy, including optimal therapeutic management and long-term monitoring. We hope that this information will serve as a guide for practicing cardiologists who treat patients thus affected.

Keywords: Cardiomyopathies/genetics/pathology/therapy; DNA, mitochondrial/analysis/genetics; electron transport/physiology; energy metabolism/physiology; genetic predisposition to disease; heart diseases/genetics; mitochondria/physiology; mitochondrial diseases/complications/diagnosis/genetics/physiopathology/drug therapy; risk factors; ventricular dysfunction, left/genetics.

Publication types

  • Review

MeSH terms

  • Animals
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / genetics
  • Cardiomyopathies* / metabolism
  • Cardiomyopathies* / physiopathology
  • Cardiomyopathies* / therapy
  • DNA, Mitochondrial / genetics
  • Energy Metabolism
  • Genetic Predisposition to Disease
  • Humans
  • Mitochondria, Heart / metabolism
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / physiopathology
  • Mitochondrial Diseases / therapy*
  • Phenotype
  • Predictive Value of Tests
  • Risk Factors
  • Treatment Outcome


  • DNA, Mitochondrial