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 |
| Open access status: | An open access version is available from UCL Discovery |
| 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 > School of Life and Medical 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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