Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?

Hypertrophic cardiomyopathy (HCM) is the most common monogenic cardiovascular disease in Brazil, with a prevalence of approximately 1:500 individuals. The autosomal dominant inheritance pattern is the most common one. More than 20 genes have been reported as being associated with the disease, and most of them encode sarcomeric proteins.^,

Fabry disease (FD) is a lysosomal storage disorder caused by a-galactosidase-A deficiency due to a mutation in the GLA gene, with X-linked inheritance. It causes alterations in multiple organs, including the heart, mimicking HCM.

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