An unusual cause of dyspnea.
The case of a 71-year-old woman who presented with dyspnea and palpitations is presented. Workup yielded a diagnosis of Fabry's disease, and the patient was referred for therapy. Fabry's disease is a disorder of glycosphingolipid metabolism and has forms that are limited to the myocardium. There is evidence that it has been underrecognized as a cause of cardiac hypertrophy. Because screening can be done with a simple blood test and new treatment options appear promising, we recommend consideration of Fabry's disease in the workup of patients with cardiac hypertrophy.
Jamali
Aamer H
AH
Division of Cardiology, Cedars-Sinai Medical Center, Los Angeles, California, USA. jamalia@cshs.org
Ahmed
Riaz M
RM
Stein
Herbert
H
D000368:Aged; D001706:Biopsy; D004417:Dyspnea / Q000209:etiology*; D004452:Echocardiography; D004562:Electrocardiography; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006352:Heart Ventricles / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008854:Microscopy, Electron; D009206:Myocardium / Q000473:pathology / Q000648:ultrastructure; D014281:Trihexosylceramides / Q000097:blood / Q000378:metabolism; D000519:alpha-Galactosidase / Q000097:blood / Q000378:metabolism
D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase