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Cardiac amyloidosis: the great pretender

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Abstract

Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and disease-related reasons including: fragmented knowledge among different specialties and subspecialties, shortage of centres and specialists dedicated to disease management, erroneous belief it is an incurable disease, rarity of the condition, intrinsic phenotypic heterogeneity, genotypic heterogeneity in transthyretin-related forms and the necessity of target organ tissue histological diagnosis in the vast majority of cases. Pitfalls, incorrect beliefs and deceits challenge not only the path to the diagnosis of CA but also the precise identification of aetiological subtype. The awareness of this condition is the most important prerequisite for the management of the risk of underdiagnoses and misdiagnosis. Almost all clinical, imaging and laboratory tests can be misinterpreted, but fortunately each of these diagnostic steps can also offer diagnostic “red flags” (i.e. highly suggestive findings that can foster the correct diagnostic suspicion and facilitate early, timely diagnosis). This is especially important because outcomes in CA are largely driven by the severity of cardiac dysfunction and emerging therapies are aimed at preventing further amyloid deposition.

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Acknowledgments

This study is partly supported by the strategic programme “Regione Emilia Romagna - Università 2010-2012 Technological Innovations in the Treatment of Heart Failure”.

Conflict of interest

Drs. Rapezzi, Lorenzini, Longhi, Milandri, Gagliardi, Bartolomei, Salvi and Maurer have no conflict of interest or financial ties to disclose.

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Authors and Affiliations

  1. Cardiology, Department of Experimental, Diagnostic and Specialty Medicine – DIMES, Alma Mater Studiorum, University of Bologna, Bologna, Italy

    Claudio Rapezzi, Massimiliano Lorenzini, Simone Longhi, Agnese Milandri & Christian Gagliardi

  2. IRCCS Neurosciences, Bologna, Italy

    Ilaria Bartolomei & Fabrizio Salvi

  3. Center for Advanced Cardiac Care, Columbia College of Physicians and Surgeons, New York City, NY, USA

    Mathew S. Maurer

  4. Istituto di Cardiologia, Policlinico S. Orsola-Malpighi, via Massarenti 9, 40138, Bologna, Italy

    Claudio Rapezzi

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  1. Claudio Rapezzi
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Correspondence to Claudio Rapezzi.

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Rapezzi, C., Lorenzini, M., Longhi, S. et al. Cardiac amyloidosis: the great pretender. Heart Fail Rev 20, 117–124 (2015). https://doi.org/10.1007/s10741-015-9480-0

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