Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient a-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving. (C) 2021 by the American College of Cardiology Foundation.

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week / Pieroni, Maurizio; Moon, James C; Arbustini, Eloisa; Barriales-Villa, Roberto; Camporeale, Antonia; Vujkovac, Andreja Cokan; Elliott, Perry M; Hagege, Albert; Kuusisto, Johanna; Linhart, Aleš; Nordbeck, Peter; Olivotto, Iacopo; Pietilä-Effati, Päivi; Namdar, Mehdi. - In: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. - ISSN 0735-1097. - STAMPA. - 77:(2021), pp. 922-936. [10.1016/j.jacc.2020.12.024]

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

Olivotto, Iacopo;
2021

Abstract

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient a-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving. (C) 2021 by the American College of Cardiology Foundation.
2021
77
922
936
Pieroni, Maurizio; Moon, James C; Arbustini, Eloisa; Barriales-Villa, Roberto; Camporeale, Antonia; Vujkovac, Andreja Cokan; Elliott, Perry M; Hagege, Albert; Kuusisto, Johanna; Linhart, Aleš; Nordbeck, Peter; Olivotto, Iacopo; Pietilä-Effati, Päivi; Namdar, Mehdi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1302282
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