TY - JOUR
T1 - Cardiac Involvement in Fabry Disease
T2 - JACC Review Topic of the Week
AU - Pieroni, Maurizio
AU - Moon, James C.
AU - Arbustini, Eloisa
AU - Barriales-Villa, Roberto
AU - Camporeale, Antonia
AU - Vujkovac, Andreja Cokan
AU - Elliott, Perry M.
AU - Hagege, Albert
AU - Kuusisto, Johanna
AU - Linhart, Aleš
AU - Nordbeck, Peter
AU - Olivotto, Iacopo
AU - Pietilä-Effati, Päivi
AU - Namdar, Mehdi
N1 - Funding Information:
Dr. Pieroni has received advisory board honoraria from Amicus Therapeutics and Sanofi Genzyme; and has received speaker honoraria from Amicus Therapeutics, Sanofi Genzyme, and Shire. Dr. Moon has received advisory board honoraria and speaker honoraria from Sanofi Genzyme and Shire; and has received an investigator-led research grant from Sanofi Genzyme. Dr. Arbustini has received travel support from Sanofi Genzyme, Shire, and Amicus Therapeutics. Dr. Barriales-Villa has received an unrestricted educational grant from Sanofi Genzyme; and has received advisory board/speaker’s fees from Amicus Therapeutics, Sanofi Genzyme, and Pfizer. Dr. Camporeale has received honoraria for presentations and board meetings from Amicus Therapeutics, Sanofi Genzyme, and Shire; and has received a research grant from Amicus Therapeutics. Dr. Vujkovac has received speaker honoraria and travel support from Sanofi Genzyme and Takeda. Dr. Elliott has received an unrestricted educational grant from Pfizer; and has received advisory board and/or speaker’s fees from Myokardia, Cytokinetics, Sanofi Genzyme, Shire, Alnylam, and Pfizer. Dr. Hagege has received support from Amicus, Gilead, Myokardia, Novartis, and Sanofi Genzyme. Dr. Kuusisto has received advisory board attendance fees from Sanofi Genzyme; and has received speaker honoraria and travel support from Sanofi Genzyme, Shire, and Amicus. Dr. Linhart has been a consultant for Amicus Therapeutics, Sanofi Genzyme, and Takeda; and has received speaker honoraria and travel support from Sanofi Genzyme and Takeda. Dr. Nordbeck has received honoraria for lecturing and advisory board participation from Amicus Therapeutics, Genzyme/Sanofi, Greenovation, Idorsia, and Shire/Takeda. Dr. Olivotto has received grants from Myokardia, Sanofi Genzyme, Shire, Bayer, Amicus, and Menarini International; and has received board and/or speaker’s fees from Myokardia, Cytokinetics, Sanofi Genzyme, and Shire. Dr. Pietila-Effati has received advisory board attendance and speaker honoraria, and travel support from Sanofi Genzyme; and has been a consultant for Shire. Dr. Namdar has received research support, advisory board attendance, and speaker honoraria, and travel support from Sanofi Genzyme; and has received research support from Shire HGT.
Funding Information:
The authors thank Ugo Battaglia, PhD and Alex Goonesinghe, PhD from HealthCare21, Lucid, a Lucid Group agency, Macclesfield, Cheshire, United Kingdom, for providing medical writing support, which was funded by Sanofi Genzyme.
Publisher Copyright:
© 2021 American College of Cardiology Foundation
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/2/23
Y1 - 2021/2/23
N2 - 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.
AB - 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.
KW - Fabry disease
KW - hypertrophic cardiomyopathy
KW - lysosome function
KW - T1 mapping
UR - http://www.scopus.com/inward/record.url?scp=85100490976&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85100490976&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2020.12.024
DO - 10.1016/j.jacc.2020.12.024
M3 - Review article
AN - SCOPUS:85100490976
VL - 77
SP - 922
EP - 936
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
SN - 0735-1097
IS - 7
ER -