1. Diagnosis and Management of Cardiovascular Involvement in Fabry Disease
- Author
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Adelaide Fusco, Eduardo Bossone, Emanuele Monda, Marta Rubino, Laura Capodicasa, Elena Biagini, Paolo Orabona, Francesca Dongiglio, Giuseppe Limongelli, Marialuisa Mazzella, Maurizio Pieroni, Dominique P. Germain, Martina Caiazza, Annapaola Cirillo, Giuseppe Palmiero, Antonio Pisani, Flavia Chiosi, Michele Lioncino, Paolo Calabrò, Arturo Cesaro, Rubino, M., Monda, E., Lioncino, M., Caiazza, M., Palmiero, G., Dongiglio, F., Fusco, A., Cirillo, A., Cesaro, A., Capodicasa, L., Mazzella, M., Chiosi, F., Orabona, P., Bossone, E., Calabro, P., Pisani, A., Germain, D. P., Biagini, E., Pieroni, M., and Limongelli, G.
- Subjects
medicine.medical_specialty ,medicine.medical_treatment ,Left ventricular hypertrophy ,Targeted therapy ,Quality of life ,Fibrosis ,Internal medicine ,medicine ,Lysosomal storage disease ,Humans ,Enzyme Replacement Therapy ,business.industry ,Hypertrophic cardiomyopathy ,General Medicine ,Cardiomyopathy, Hypertrophic ,medicine.disease ,Fabry disease ,Heart failure ,Quality of Life ,Cardiology ,Fabry Disease ,Hypertrophy, Left Ventricular ,Therapy ,Cardiology and Cardiovascular Medicine ,business ,Diagnosi - Abstract
Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. Cardiac involvement is common in FD and is responsible for impaired quality of life and premature death. The classic cardiac involvement is a nonobstructive form of hypertrophic cardiomyopathy, usually manifesting as concentric left ventricular hypertrophy, with subsequent arrhythmogenic intramural fibrosis. Treatment of patients with FD should be directed to prevent the disease progression to irreversible organ damage and organ failure. The aim of this review is to describe the current state of knowledge regarding cardiovascular involvement in FD, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy.
- Published
- 2022