Fabry disease: The crucial role of the interhospital Heart Team in the diagnostic process of this rare disease

Le résumé fourni par la source

Fabry disease (FD) is an X-linked lysosomal storage disease (MIM 301500) resulting from mutations in the α-galactosidase A (GLA) gene that cause deficiency of α-galactosidase A and progressive accumulation of glycosphingolipids (lyso-Gb3) in lysosomes of the heart, kidney, brain and skin.In classic FD, clinical symptoms appear in childhood or adolescence and include renal failure, cerebrovascular signs, heart failure, and ultimately premature death; however, late-onset FD is more prevalent and still underdiagnosed despite the emergence of therapeutic options [1,2].A 52-year-old male was referred to our tertiary care center with a diagnosis of hypertrophic cardiomyopathy and atypical right bundle branch block pattern (Figure 1) [3].The patient reported episodes of fainting and slurred speech within the past year.Over the past three

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