Cardiac amyloidosis: the great pretender

Heart Fail Rev. 2015 Mar;20(2):117-24. doi: 10.1007/s10741-015-9480-0.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amyloid Neuropathies, Familial / diagnosis*
  • Amyloid Neuropathies, Familial / genetics
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / genetics
  • Diagnostic Errors*
  • Echocardiography
  • Electrocardiography
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Mutation
  • Radionuclide Imaging

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related