caa a22 4500 605479135 CHVBK 20210128100408.0 cr unu---uuuuu 210128e20150301xx s 000 0 eng 10.1007/s10741-014-9452-9 doi (NATIONALLICENCE)springer-10.1007/s10741-014-9452-9 Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment [Elektronische Daten] [Brendan Putko, Kevin Wen, Richard Thompson, John Mullen, Miriam Shanks, Haran Yogasundaram, Consolato Sergi, Gavin Oudit] Anderson-Fabry disease (AFD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a deficiency in the enzyme α-galactosidase A (α-Gal A). Anderson-Fabry cardiomyopathy is characterized by structural, valvular, vascular and conduction abnormalities, and is now the most common cause of mortality in patients with AFD. Large-scale metabolic and genetic screening studies have revealed AFD to be prevalent in populations of diverse ethnic origins, and the variant form of AFD represents an unrecognized health burden. Anderson-Fabry disease is an X-linked disorder, and genetic testing is critical for the diagnosis of AFD in women. Echocardiography with strain imaging and cardiac magnetic resonance imaging using late enhancement and T1 mapping are important imaging tools. The current therapy for AFD is enzyme replacement therapy (ERT), which can reverse or prevent AFD progression, while gene therapy and the use of molecularchaperones represent promising novel therapies for AFD. Anderson-Fabry cardiomyopathy is an important and potentially reversible cause of heart failure that involves LVH, increased susceptibility to arrhythmias and valvular regurgitation. Genetic testing and cardiac MRI are important diagnostic tools, and AFD cardiomyopathy is treatable if ERT is introduced early. Springer Science+Business Media New York, 2014 Cardiomyopathy nationallicence Left ventricular hypertrophy nationallicence Enzyme replacement therapy nationallicence Cardiac MRI nationallicence Putko Brendan Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut Wen Kevin Division of Nephrology, Department of Medicine, University of Alberta, Edmonton, AB, Canada aut Thompson Richard Department of Biomedical Engineering, University of Alberta, Edmonton, AB, Canada aut Mullen John Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB, Canada aut Shanks Miriam Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut Yogasundaram Haran Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut Sergi Consolato Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada aut Oudit Gavin Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut Heart Failure Reviews Springer US; http://www.springer-ny.com 20/2(2015-03-01), 179-191 1382-4147 20:2<179 2015 20 10741 https://doi.org/10.1007/s10741-014-9452-9 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10741-014-9452-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Putko Brendan Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Wen Kevin Division of Nephrology, Department of Medicine, University of Alberta, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Thompson Richard Department of Biomedical Engineering, University of Alberta, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Mullen John Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Shanks Miriam Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Yogasundaram Haran Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Sergi Consolato Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Oudit Gavin Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada aut NATIONALLICENCE 773 0- Heart Failure Reviews Springer US; http://www.springer-ny.com 20/2(2015-03-01), 179-191 1382-4147 20:2<179 2015 20 10741