Article Text


Progressive cardiomyopathy as manifestation of mitochondrial disease
  1. D N Nan1,
  2. M Fernández-Ayala1,
  3. J Infante2,
  4. P Matorras1,
  5. J González-Macías1
  1. 1Department of Internal Medicine, University Hospital Marqués de Valdecilla, Santander, Cantabria, Spain
  2. 2Service of Neurology
  1. Correspondence to:
 Dr Daniel N Nan, Department of Internal Medicine, Hospital Universitario Marqués de Valdecilla, Avd Valdecilla, s/n 39008 Santander, Spain;


Cardiomyopathies are a clinically and genetically heterogeneous group of cardiac diseases in which the myocardium is primarily involved. Mitochondrial DNA point mutations have been identified in a broad spectrum of mitochondrial disorders, which are associated with neurological diseases. However, they also have been reported in patients with cardiomyopathy, either alone or as part of a multisystem disorder. A patient who presented with severe heart failure and was diagnosed as having a mitochondrial A3243G mutation is described.

  • cardiomyopathy
  • mitochondrial disease

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