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Postgraduate Medical Journal 2002;78:298-299; doi:10.1136/pmj.78.919.298
Copyright © 2002 The Fellowship of Postgraduate Medicine.
Postgraduate Medical Journal 2002;78:298-299
© 2002 The Fellowship of Postgraduate Medicine

CASE REPORT

Progressive cardiomyopathy as manifestation of mitochondrial disease

D N Nan1, M Fernández-Ayala1, J Infante2, P Matorras1 and J González-Macías1

1 Department of Internal Medicine, University Hospital Marqués de Valdecilla, Santander, Cantabria, Spain
2 Service of Neurology

Correspondence to:
Correspondence to:
Dr Daniel N Nan, Department of Internal Medicine, Hospital Universitario Marqués de Valdecilla, Avd Valdecilla, s/n 39008 Santander, Spain;
nandani{at}teleline.es

ABSTRACT

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.

Keywords: cardiomyopathy; mitochondrial disease


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