Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment
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| 024 | 7 | 0 | |a 10.1007/s10741-014-9452-9 |2 doi |
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| 245 | 0 | 0 | |a Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment |h [Elektronische Daten] |c [Brendan Putko, Kevin Wen, Richard Thompson, John Mullen, Miriam Shanks, Haran Yogasundaram, Consolato Sergi, Gavin Oudit] |
| 520 | 3 | |a 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. | |
| 540 | |a Springer Science+Business Media New York, 2014 | ||
| 690 | 7 | |a Cardiomyopathy |2 nationallicence | |
| 690 | 7 | |a Left ventricular hypertrophy |2 nationallicence | |
| 690 | 7 | |a Enzyme replacement therapy |2 nationallicence | |
| 690 | 7 | |a Cardiac MRI |2 nationallicence | |
| 700 | 1 | |a Putko |D Brendan |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Wen |D Kevin |u Division of Nephrology, Department of Medicine, University of Alberta, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Thompson |D Richard |u Department of Biomedical Engineering, University of Alberta, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Mullen |D John |u Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Shanks |D Miriam |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Yogasundaram |D Haran |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Sergi |D Consolato |u Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Oudit |D Gavin |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | |
| 773 | 0 | |t Heart Failure Reviews |d Springer US; http://www.springer-ny.com |g 20/2(2015-03-01), 179-191 |x 1382-4147 |q 20:2<179 |1 2015 |2 20 |o 10741 | |
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| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s10741-014-9452-9 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Putko |D Brendan |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Wen |D Kevin |u Division of Nephrology, Department of Medicine, University of Alberta, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Thompson |D Richard |u Department of Biomedical Engineering, University of Alberta, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Mullen |D John |u Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Shanks |D Miriam |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Yogasundaram |D Haran |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Sergi |D Consolato |u Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Oudit |D Gavin |u Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, T6G 2S2, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Heart Failure Reviews |d Springer US; http://www.springer-ny.com |g 20/2(2015-03-01), 179-191 |x 1382-4147 |q 20:2<179 |1 2015 |2 20 |o 10741 | ||