Abstract
Fabry Disease (FD) is a systemic X-linked lysosomal storage disorder that can result in renal, cardiovascular, and neurovascular disease due to glycosphingolipid globotriaosylceramide (Gb3) accumulation in the endothelium of various organs. As a result, patients with FD have significantly reduced life expectancy with cardiac disease noted as being the primary cause of death in these patients. The diagnosis of FD is challenging and is often missed, but previous work has suggested that FD should be considered in the differential of all patients with unexplained hypertrophic cardiomyopathy. We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed left ventricular hypertrophy (LVH).
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