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

Maurizio Pieroni, James C. Moon, Eloisa Arbustini, Roberto Barriales-Villa, Antonia Camporeale, Andreja Cokan Vujkovac, Perry M. Elliott, Albert Hagege, Johanna Kuusisto, Aleš Linhart, Peter Nordbeck, Iacopo Olivotto, Päivi Pietilä-Effati, Mehdi Namdar

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)922-936
Number of pages15
JournalJournal of the American College of Cardiology
Issue number7
Publication statusPublished - Feb 23 2021


  • Fabry disease
  • hypertrophic cardiomyopathy
  • lysosome function
  • T1 mapping

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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