Fabry disease and the heart: a comprehensive review

• Published in: International journal of molecular sciences Vol. 22; no. 9; pp. 1 - 36
• Main Authors: Azevedo, Olga, Cordeiro, Filipa, Gago, Miguel Fernandes, Miltenberger-Miltenyi, Gabriel, Ferreira, Catarina, Sousa, Nuno, Cunha, Damião José Gaspar Lourenço
• Format: Journal Article
• Language: English
• Published: Switzerland Multidisciplinary Digital Publishing Institute (MDPI) 23.04.2021; MDPI AG; MDPI
• Subjects: Age; Apoptosis; Cardiomyocytes; Cardiomyopathy; Enzyme replacement therapy; Fabry disease; Fibroblasts; Heart; Heart failure; Magnetic resonance imaging; Migalastat; Mutation; Myocarditis; Review; Science & Technology; Smooth muscle; Fabry disease; enzyme replacement therapy; migalastat; cardiomyopathy; heart

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulatio...