Ventricular Septal Myectomy for the Treatment of Left Ventricular Outflow Tract Obstruction Due to Fabry Disease
Section snippets
Case description
A 38-year-old man presented to our cardiology clinic for cardiovascular evaluation. He initially developed symptoms of peripheral neuropathy and anhydrosis as a child. As an adult, he started developing progressive chronic kidney disease and was eventually diagnosed with FD on kidney biopsy. Over the past 2 years, he had developed progressive dyspnea on exertion and associated chest pressure with exertion.
Genetic testing revealed a missense of the GLA gene, alpha-galactosidase activity level
Discussion
FD is a systemic lysosomal storage disorder that occurs due to mutations in the X-linked GLA gene leading to deficiencies in the enzyme alpha-galactosidase and subsequent accumulation of globotriaocylceramide in lysosomes. The clinical presentation of FD can vary greatly between individuals and is related to the levels of residual alpha-galactosidse activity. In males with severe deficiency, patients will classically present in childhood with peripheral neuropathy, angiokeratomas, and renal
Disclosures
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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