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Scientific article
Review
Open access
English

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

Published inJournal of the American College of Cardiology, vol. 77, no. 7, p. 922-936
Publication date2021-02-23
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.

eng
Keywords
  • Fabry disease
  • T1 mapping
  • Hypertrophic cardiomyopathy
  • Lysosome function
  • 1-Deoxynojirimycin / analogs & derivatives
  • 1-Deoxynojirimycin / therapeutic use
  • Electrocardiography
  • Enzyme Replacement Therapy
  • Fabry Disease / complications
  • Fabry Disease / drug therapy
  • Heart / diagnostic imaging
  • Heart Diseases / diagnosis
  • Heart Diseases / etiology
  • Humans
Citation (ISO format)
PIERONI, Maurizio et al. Cardiac Involvement in Fabry Disease: <i>JACC</i> Review Topic of the Week. In: Journal of the American College of Cardiology, 2021, vol. 77, n° 7, p. 922–936. doi: 10.1016/j.jacc.2020.12.024
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ISSN of the journal0735-1097
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