Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week |
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Authors: | 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 |
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Affiliation: | 1. Cardiovascular Department, San Donato Hospital, Arezzo, Italy;2. Barts Heart Centre, University College London, London, United Kingdom;3. Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy;4. Unidad de Cardiopatías Familiares, INIBIC, Complejo Hospitalario Universitario de A Coruña, CIBERCV, A Coruña, Spain;5. Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy;6. Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia;7. Assistance Publique–Hôpitaux de Paris, Cardiology Department, Hôpital Européen Georges Pompidou, Paris, France;8. Centre for Medicine and Clinical Research, Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland;10. University Hospital of Würzburg, Würzburg, Germany;11. Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy;12. Cardiac Unit, Vaasa Central Hospital, Vaasa, Finland;13. Hôpitaux Universitaires de Genève, Genève, Switzerland |
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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. |
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Keywords: | Fabry disease hypertrophic cardiomyopathy lysosome function T1 mapping ADAs" },{" #name" :" keyword" ," $" :{" id" :" kwrd0035" }," $$" :[{" #name" :" text" ," _" :" anti-drug antibodies α-Gal A" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" α-galactosidase A CMR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" cardiac magnetic resonance ERT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" enzyme replacement therapy FD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" Fabry disease Gb3" },{" #name" :" keyword" ," $" :{" id" :" kwrd0085" }," $$" :[{" #name" :" text" ," _" :" globotriaosylceramide HCM" },{" #name" :" keyword" ," $" :{" id" :" kwrd0095" }," $$" :[{" #name" :" text" ," _" :" hypertrophic cardiomyopathy LGE" },{" #name" :" keyword" ," $" :{" id" :" kwrd0105" }," $$" :[{" #name" :" text" ," _" :" late gadolinium enhancement LVH" },{" #name" :" keyword" ," $" :{" id" :" kwrd0115" }," $$" :[{" #name" :" text" ," _" :" left ventricular hypertrophy lyso-Gb3" },{" #name" :" keyword" ," $" :{" id" :" kwrd0125" }," $$" :[{" #name" :" text" ," _" :" globotriaosylsphingosine |
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