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• W2548149018 abstract "Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are very common in FD and are the main cause of late morbidity, as well as early mortality in both hemizygous men and heterozygous women. There is a need for a multidisciplinary approach to evaluation and management of FD patients as there is a wide range of presentation of FD, which varies with mutation and other organ involvement/dysfunction. An overview of common cardiac involvement and clinical characteristics in FD including: left ventricular hypertrophy (LVH), conduction abnormalities and arrhythmias, coronary artery disease and valvular infiltrative myopathy are provided in this review. Current therapeutic approaches such as enzyme replacement therapy as well as the emergence of novel therapeutic options such as gene therapy to optimize disease outcomes in FD patients will be highlighted in this paper." @default.
• W2548149018 created "2016-11-11" @default.
• W2548149018 creator A5024454833 @default.
• W2548149018 date "2017-01-01" @default.
• W2548149018 modified "2023-09-24" @default.
• W2548149018 title "Fabry disease: A fundamental genetic modifier of cardiac function" @default.
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• W2548149018 doi "https://doi.org/10.1016/j.retram.2016.09.001" @default.
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• W2548149018 hasPublicationYear "2017" @default.
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