Fabry Disease

Authors: Sara Hoss, Manhal Habib, Josh Silver, Melanie Care, Raymond H. Chan, Kate Hanneman, Chantal F. Morel, Robert M. Iwanochko, Michael H. Gollob, Harry Rakowski, Arnon Adler 

Short Description: Genetic testing is helpful for diagnosis of hypertrophic cardiomyopathy (HCM) mimics. Little data are available regarding the yield of such testing and its clinical impact. The HCM genetic database at our center was used for identification of patients who underwent HCM-directed genetic testing including at least 1 gene associated with an HCM mimic (GLA, TTR, PRKAG2, LAMP2, PTPN11, RAF1, and DES). Charts were retrospectively reviewed and genetic and clinical data extracted.

Interest: Fabry Disease, Genetic Testing, Genetics, Hypertrophic Cardiomyopathy

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