Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

Neuromuscul Disord. 2012 Jul;22(7):592-6. doi: 10.1016/j.nmd.2012.03.001. Epub 2012 Apr 17.


Although neuromuscular clinical features often dominate the clinical presentation of mitochondrial disease due to the m.3243A>G mitochondrial DNA (mtDNA) mutation, many patients develop cardiac failure, which is often overlooked until it reaches an advanced stage. We set out to determine whether cardiac complications are sufficiently common to warrant prospective screening in all mutation carriers. Routine clinical echocardiography and 3 Tesla cardiac MRI were performed on ten m.3243A>G mutation carriers and compared to age and gender matched controls, with contemporaneous quadriceps muscle biopsies to measure respiratory chain activity and mtDNA mutation levels. Despite normal echocardiography, all ten m.3243A>G mutation carriers had evidence of abnormal cardiac function on MRI. The degree of cardiac dysfunction correlated with the percentage level of mutant mtDNA in skeletal muscle. Sub-clinical cardiac dysfunction was a universal finding in this study, adding weight to the importance of screening for cardiac complications in patients with m.3243A>G. The early detection of cardiac dysfunction with MRI opens up opportunities to prevent heart failure in these patients through early intervention.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cardiomyopathies / complications*
  • Cardiomyopathies / diagnosis
  • DNA, Mitochondrial / genetics*
  • Electrocardiography
  • Female
  • Heart Rate / genetics
  • Heart Ventricles / pathology
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / genetics*
  • Muscle, Skeletal / pathology
  • Mutation / genetics*
  • Torsion Abnormality / etiology
  • Torsion Abnormality / genetics


  • DNA, Mitochondrial