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Heart, Lung and Circulation

Amyloid Cardiomyopathy

  • Nicole K. Bart
    Affiliations
    Cardiology Department, St. Vincent’s Hospital, Sydney NSW, Australia

    Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney NSW, Australia

    St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Sydney NSW, Australia
    Search for articles by this author
  • Liza Thomas
    Affiliations
    Cardiology Department, Westmead Hospital, Sydney NSW, Australia

    Westmead Clinical School, University of Sydney, Sydney NSW, Australia

    South Western Clinical School, University of NSW, Sydney NSW, Australia
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  • Dariusz Korczyk
    Affiliations
    Cardiology Department, Princess Alexandra Hospital, Brisbane Qld, Australia

    University of Queensland, Brisbane Qld, Australia
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  • John J. Atherton
    Affiliations
    University of Queensland, Brisbane Qld, Australia

    Cardiology Department, Royal Brisbane and Women's Hospital, Brisbane Qld, Australia
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  • Graeme J. Stewart
    Affiliations
    Westmead Clinical School, University of Sydney, Sydney NSW, Australia

    Clinical Immunology Department & Westmead Amyloidosis Centre, Westmead Hospital, Sydney, NSW, Australia
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  • Diane Fatkin
    Correspondence
    Corresponding author at: Victor Chang Cardiac Research Institute, 405 Liverpool St, Darlinghurst NSW 2010, Australia. Tel.: +61 2 9295 8618; fax: +61 2 9295 8770
    Affiliations
    Cardiology Department, St. Vincent’s Hospital, Sydney NSW, Australia

    Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney NSW, Australia

    St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Sydney NSW, Australia
    Search for articles by this author
Published:December 11, 2019DOI:https://doi.org/10.1016/j.hlc.2019.11.019
      Amyloid cardiomyopathy is emerging as an important and under-recognised cause of heart failure and cardiac arrhythmias, especially in older adults. This disorder is characterised by extracellular deposition of amyloid fibrils that form due to misfolding of secreted light chains (AL) or transthyretin protein (ATTR). In ATTR, amyloid aggregates typically result from excessive accumulation of wild-type transthyretin (ATTRwt) or from protein structural defects caused by TTR gene variants (ATTRv). Amyloid fibril deposition may predominantly affect the heart or show multi-system involvement. Previously considered to be rare and inexorably progressive with no specific therapy, there has been enormous recent interest in ATTR cardiomyopathy due to upwardly-revised estimates of disease prevalence together with development of disease-modifying interventions. Because of this, there is a clinical imperative to have a high index of suspicion to identify potential cases and to be aware of contemporary diagnostic methods and treatment options. Genetic testing should be offered to all patients with proven ATTR to access the benefits of new therapies specific to ATTRv and allow predictive testing of family members. With heightened awareness of amyloid cardiomyopathy and expanded use of genetic testing, a substantial rise in the numbers of asymptomatic individuals who are carriers of pathogenic variants is expected, and optimal strategies for monitoring and treatment of these individuals at risk need to be determined. Pre-emptive administration of fibril-modifying therapies provides an unprecedented opportunity for disease prevention and promises to change amyloid cardiomyopathy from being a fatal to a treatable disorder.

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