• Aldostefano Porcari, Gianfranco Sinagra, Julian D Gillmore, Marianna Fontana, and Philip N Hawkins.
• National Amyloidosis Centre, Division of Medicine, Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, UK; Centre for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste, Trieste 34149, Italy; European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Italy. Electronic address: aldostefano.porcari.22@ucl.ac.uk.
• Eur. J. Intern. Med. 2024 May 1; 123: 293629-36.

AbstractTransthyretin amyloid cardiomyopathy (ATTR-CM) has been traditionally considered a rare and inexorably fatal condition. ATTR-CM now is an increasingly recognized cause of heart failure (HF) and mortality worldwide with effective pharmacological treatments. Advances in non-invasive diagnosis, coupled with the development of effective treatments, have transformed the diagnosis of ATTR-CM, which is now possible without recourse to endomyocardial biopsy in ≈70 % of cases. Many patients are now diagnosed at an earlier stage. Echocardiography and cardiac magnetic resonance have enabled identification of patients with possible ATTR-CM and more accurate prognostic stratification. Although radionuclide scintigraphy with 'bone' tracers has an established diagnostic value, the diagnostic performance of the bone tracers validated for non-invasive confirmation of ATTR-CM may not be equal. Characterising the wider clinical phenotype of patients with ATTR-CM has enabled identification of features with potential for earlier diagnosis such as carpal tunnel syndrome. Therapies able to slow or halt ATTR-CM progression and increase survival are now available and there is also evidence that patients may benefit from specific conventional HF medications. Cutting-edge research in the field of antibody-mediated removal of ATTR deposits compellingly suggest that ATTR-CM is a truly reversible disorder, bringing hope for patients even with advanced disease. A wide horizon of possibilities is unfolding and awaits discovery.Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.

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