title: Progressive cardiomyopathy as manifestation of mitochondrial disease.
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.
authors.affiliation: Department of Internal Medicine, University Hospital Marqués de Valdecilla, Santander, Cantabria, Spain. nandani@teleline.es
authors.forename: D N
authors.initials: DN
authors.lastname: Nan
authors.forename: M
authors.initials: M
authors.lastname: Fernández-Ayala
authors.forename: J
authors.initials: J
authors.lastname: Infante
authors.forename: P
authors.initials: P
authors.lastname: Matorras
authors.forename: J
authors.initials: J
authors.lastname: González-Macías
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006333:Heart Failure / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017241:MELAS Syndrome / Q000175:diagnosis*; D008875:Middle Aged; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial