[Congestive cardiomyopathy and pyruvate elevation in a case of Charcot-Marie-Tooth disease].
The case is reported of a patient with Charcot-Marie-Tooth disease and congestive cardiomyopathy. This is an exceptional association and suggests there could be transitional forms between Charcot-Marie-Tooth disease and Friedreich ataxia, which is frequently associated with hypertrophic cardiomyopathy. A disorder of pyruvate metabolism observed in our patient could explain both the neurologic and cardiac symptoms.
D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000000981:diagnostic imaging; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D005621:Friedreich Ataxia / Q000175:diagnosis; D006333:Heart Failure / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000150:complications*; D011859:Radiography
Cardiomyopathie congestive et augmentation du pyruvate dans un cas de maladie de Charcot-Marie-Tooth.