Cardiac amyloidosis: the great pretender

Claudio Rapezzi, Massimiliano Lorenzini, Simone Longhi, Agnese Milandri, Christian Gagliardi, Ilaria Bartolomei, Fabrizio Salvi, Mathew S. Maurer

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)117-124
Number of pages8
JournalHeart Failure Reviews
Volume20
Issue number2
DOIs
Publication statusPublished - Mar 13 2015

Keywords

  • Amyloidosis
  • Cardiomyopathy
  • Diagnosis
  • Familial amyloid polyneuropathy
  • Senile systemic amyloidosis
  • Transthyretin

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Medicine(all)

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  • Cite this

    Rapezzi, C., Lorenzini, M., Longhi, S., Milandri, A., Gagliardi, C., Bartolomei, I., Salvi, F., & Maurer, M. S. (2015). Cardiac amyloidosis: the great pretender. Heart Failure Reviews, 20(2), 117-124. https://doi.org/10.1007/s10741-015-9480-0