The Mount Sinai Hospital clinicalpathological conference: a 45-year-old man with Pompe's disease and dilated cardiomyopathy.
This is an unusual case of a 45-year-old man, born in Ecuador, with evidence of profound left ventricular dysfunction, dilated cardiomyopathy and marked myocardial hypertrophy. Preceding events were advanced atrioventricular block (necessitating pacemaker implantation) and atrial flutter. The diagnosis of Pompe's disease was established by endomyocardial biopsy and appropriate staining, which indicated abnormal glycogen storage.
Ben-Ami
R
R
Department of Medicine, Mount Sinai School of Medicine, One East 100th Street, New York, NY, USA.
Puglisi
J
J
Haider
T
T
Mehta
D
D
D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000209:etiology; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis; D003937:Diagnosis, Differential; D004562:Electrocardiography; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006327:Heart Block / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis