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

Pieroni, M; Moon, JC; Arbustini, E; Barriales-Villa, R; Camporeale, A; Vujkovac, AC; Elliott, PM; ... Namdar, M; + view all (2021) Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. Journal of the American College of Cardiology , 77 (7) pp. 922-936. 10.1016/j.jacc.2020.12.024.

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Abstract

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-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.

Type: Article
Title: Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week
Location: United States
DOI: 10.1016/j.jacc.2020.12.024
Publisher version: https://doi.org/10.1016/j.jacc.2020.12.024
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Fabry disease, T1 mapping, hypertrophic cardiomyopathy, lysosome function
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10124921
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