Clinical presentations of mitochondrial cardiomyopathies

Pediatr Cardiol. Sep-Oct 2004;25(5):443-50. doi: 10.1007/s00246-003-0490-7. Epub 2004 Jun 8.


To determine the clinical manifestations and interfamilial variability of patients diagnosed with a mitochondrial cardiomyopathy, we reviewed the charts of 14 patients with cardiomyopathy out of 59 patients with mitochondrial disorders who attended the mitochondrial disease clinic at Wolfson Medical Center from 1996 to 2001. All patients underwent a metabolic evaluation including blood lactate, pyruvate, carnitine, and amino acids and urine organic acids. Respiratory chain enzymes were assessed in 10 patients. The mitochondrial DNA (mtDNA) was assessed for mutations. The age at presentation ranged between 6 months and 24 years. Six of the patients died, 5 from heart failure. The cardiomyopathy was hypertrophic in 10 and dilated in 4. Conduction and rhythm abnormalities were present in 6. Eleven patients had family members with mitochondrial disorders. All the patients had additional involvement of one or more systems. Seven patients exhibited a deficiency of a respiratory chain enzyme in the muscle. The MELAS mtDNA point mutation (3243) was found in one patient. Blood lactic acid levels were increased in 5. Brain MRI abnormalities were observed in 4.

Conclusions: Mitochondrial dysfunction frequently affects the heart and may cause both hypertrophic and dilated cardiomyopathy. The cardiomyopathy is usually a part of a multisystem involvement and may rarely be isolated. The course may be stable for many years, but rapid deterioration may occur. Understanding the biochemical and genetic features of these diseases will enable us to comprehend the clinical heterogeneity of these disorders.

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathy, Dilated / diagnosis*
  • Cardiomyopathy, Dilated / etiology
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / etiology
  • Cardiomyopathy, Hypertrophic / genetics
  • Child
  • Child, Preschool
  • Cytochrome-c Oxidase Deficiency / etiology
  • Cytochrome-c Oxidase Deficiency / genetics
  • DNA, Mitochondrial / genetics
  • Female
  • Humans
  • Infant
  • Lactic Acid / blood
  • MELAS Syndrome / genetics
  • Male
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Point Mutation
  • Retrospective Studies


  • DNA, Mitochondrial
  • Lactic Acid