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A publication of the Cardiovascular Imaging Department of the Brazilian Society of Cardiology
Uma publicação do Departamento de Imagem Cardiovascular da Sociedade Brasileira de Cardiologia
DOI: 10.36660/abcimg.20240091i
Abstract Fabry disease (FD) is an inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (α-Gal A). This enzymatic defect leads to the cytoplasmic lysosomal accumulation of globotriaosylceramides (GB3 and LysoGB3), resulting in multisystemic clinical manifestations. Cardiovascular involvement, often mimicking hypertrophic cardiomyopathy, is the main determinant of morbidity and mortality, due to the development of arrhythmia, myocardial ischemia, and heart failure. Although FD is a rare condition in the general population, the availability of specific enzyme […]
Keywords: Fabry Disease; Glycosphingolipids; Hypertrophic Cardiomyopathy