@article{92d1807c076541efb9277b3e9f188ff8,
title = "An expert consensus document on the management of cardiovascular manifestations of Fabry disease",
abstract = "Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the α-galactosidase A (GLA) gene that leads to reduced or undetectable α-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide and its deacylated form globotriaosylsphingosine in cells throughout the body. FD can be multisystemic with neurological, renal, cutaneous and cardiac involvement or be limited to the heart. Cardiac involvement is characterized by progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death. The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications. In this paper, we summarize current knowledge of FD-related heart disease and expert consensus recommendations for its management.",
keywords = "Cardiomyopathy, Enzyme replacement therapy, Fabry disease, GLA gene",
author = "Ale{\v s} Linhart and Germain, {Dominique P.} and Iacopo Olivotto and Akhtar, {Mohammed M.} and Aris Anastasakis and Derralynn Hughes and Mehdi Namdar and Maurizio Pieroni and Albert Hag{\`e}ge and Franco Cecchi and Gimeno, {Juan R.} and Giuseppe Limongelli and Perry Elliott",
note = "Funding Information: The meeting to formulate these recommendations was funded by an unrestricted grant from Sanofi Genzyme. Sanofi had no part in writing or editing the consensus recommendations. Conflict of interest: A.L. received consultancy honoraria from Amicus Therapeutics, Sanofi Genzyme, Takeda, and speakers honoraria from Sanofi Genzyme and Takeda. D.P.G. is a consultant for Amicus Therapeutics, Sanofi Genzyme and Shire; has received research support from Sanofi Genzyme and Shire; and has received speaker honoraria and travel support from Amicus Therapeutics, Sanofi Genzyme, and Shire. I.O. has received research grants from Sanofi-Genzyme, Takeda-Shire, Amicus Therapeutics, Myokardia, Bayer, Menarini International, Boston Scientific; and has been a speaker and is on the advisory board of Sanofi-Genzyme, Takeda-Shire, Myokardia and Cytokinetics. D.H. has received honoraria for speaking and consulting, administered through UCL consultants, from Sanofi, Takeda, Protalix, amicus and freeline with a proportion of fees for UCL research. M.N. has received speaker fees/honoraria/travel grants by Bayer, Biosense Webster, Biotronik, Boston Scientific, Daiichi Sankyo, Medtronic, Sanofi Genzyme, Shire (now part of Takeda) and is on the advisory boards of Amicus, Bayer, Biotronik, Boston Scientific, Daiichi Sankyo, GBc, Sanofi Genzyme, Shire (now part of Takeda); has investigatorship roles in Biotronik, Daiichi Sankyo, Biosense Webster, Boston-Scientific, Sanofi Genzyme; has research/fellowship grants from Abbott, Biotronik, Biosense Webster, Sanofi Genzyme and Shire (now part of Takeda); and Presidency of the CHAR (Swiss Arrhythmia Foundation). M.P. has received speaker and advisory board participation fees by Sanofi Genzyme, Takeda-Shire and Amicus Therapeutics. A.H. has served as an advisor to Amicus, Gilead, Myokardia, Sanofi Genzyme. F.C. was a consultant for Sanofi Genzyme in 2018. J.R.G. has speaker/teaching, advisory work for Sanofi and Amicus, and research projects participation for Sanofi and Shire. G.L. has served as an advisor to Amicus, Shire, Sanofi Genzyme. P.M.E. has received speaker honoraria from Sanofi Genzyme and Shire; and consultant and speaker honoraria from MyoKardia, Pfizer, Alnylam, and Sanofi Genzyme. All other authors have nothing to disclose. Publisher Copyright: {\textcopyright} 2020 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = jul,
day = "1",
doi = "10.1002/ejhf.1960",
language = "English",
volume = "22",
pages = "1076--1096",
journal = "European Journal of Heart Failure",
issn = "1388-9842",
publisher = "John Wiley & Sons, Ltd",
number = "7",
}