Arq. Bras. Cardiol. 2019; 113(1): 85-86
Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?
Marcelo Imbroinise Bittencourt
DOI: 10.5935/abc.20190126
This Short Editorial is referred by the Research article "GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry’s 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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