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To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
Condition or disease
Fabry disease is an X-linked deficiency of alpha-galactosidase A resulting primarily in an accumulation of globotriaosylceramide (Gb3) in virtually all organs and systems. The main complications of Fabry disease are a 20-fold increased risk of ischemic stroke, cardiac disease including cardiomyopathy, atrio-ventricular conduction defects, a wide variety of arrhythmias, valvular dysfunction (insufficiency or stenosis) and cardiac vascular disease as well as progressive renal failure. Fabry disease cannot be easily diagnosed in patients with routine EKGs, echocardiograms or MRIs. Screening non-selected at-risk populations of patients with ischemic stroke or cardiac disease for urinary Gb3, alpha-galactosidase A activity and GLA gene mutations should enable the identification of patients previously undiagnosed with Fabry disease among the general population of patients with heart disease and stroke
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Ages Eligible for Study:
18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients with any type of cardiac diagnosis
Any diagnosis of heart disease.
Male or Female
Able to donate 12 cc of whole blood and 10 cc of urine
No diagnosis of cardiac disease.
Unable to donate 12 cc of whole blood and/or 10 cc of urine