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

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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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Acknowledgments

Brendan Putko is partially supported by a studentship award from the Alberta HEART STEADI-HF training program, and Gavin Y. Oudit is supported by operating grants from the Canadian Institute of Health Research and the Heart and Stroke Foundation of Canada.

Conflict of interest

Gavin Y. Oudit has received research funding from Pfizer and Glaxo-Smith Kline.

Author information

Authors and Affiliations

  1. Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, T6G 2S2, AB, Canada

    Brendan N. Putko, Miriam Shanks, Haran Yogasundaram & Gavin Y. Oudit

  2. Division of Nephrology, Department of Medicine, University of Alberta, Edmonton, AB, Canada

    Kevin Wen

  3. Department of Biomedical Engineering, University of Alberta, Edmonton, AB, Canada

    Richard B. Thompson

  4. Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB, Canada

    Richard B. Thompson & John Mullen

  5. Division of Cardiac Surgery, Department of Surgery, University of Alberta, Edmonton, AB, Canada

    John Mullen

  6. Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada

    Consolato Sergi

Authors
  1. Brendan N. Putko
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  2. Kevin Wen
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  3. Richard B. Thompson
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  4. John Mullen
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  5. Miriam Shanks
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  6. Haran Yogasundaram
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  7. Consolato Sergi
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  8. Gavin Y. Oudit
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Corresponding author

Correspondence to Gavin Y. Oudit.

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Putko, B.N., Wen, K., Thompson, R.B. et al. Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment. Heart Fail Rev 20, 179–191 (2015). https://doi.org/10.1007/s10741-014-9452-9

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  • DOI: https://doi.org/10.1007/s10741-014-9452-9

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