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Published in:

01-03-2015

Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment

Authors: Brendan N. Putko, Kevin Wen, Richard B. Thompson, John Mullen, Miriam Shanks, Haran Yogasundaram, Consolato Sergi, Gavin Y. Oudit

Published in: Heart Failure Reviews | Issue 2/2015

Abstract

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 molecular chaperones 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.

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Title: Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment
Authors: Brendan N. Putko
Kevin Wen
Richard B. Thompson
John Mullen
Miriam Shanks
Haran Yogasundaram
Consolato Sergi
Gavin Y. Oudit
Publication date: 01-03-2015
Publisher: Springer US
Published in: Heart Failure Reviews / Issue 2/2015
Print ISSN: 1382-4147
Electronic ISSN: 1573-7322
DOI: https://doi.org/10.1007/s10741-014-9452-9

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