1.
Cardiol Rev
; 12(1): 10-4, 2004.
Article
in English
| MEDLINE
| ID: mdl-14667257
ABSTRACT
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.