Progressive cardiomyopathy as manifestation of mitochondrial disease.
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.
Nan
D N
DN
Department of Internal Medicine, University Hospital Marqués de Valdecilla, Santander, Cantabria, Spain. nandani@teleline.es
Fernández-Ayala
M
M
Infante
J
J
Matorras
P
P
González-Macías
J
J
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
D004272:DNA, Mitochondrial