Cardiac amyloidosis: The heart of the matter

Federico Perfetto, Francesco Cappelli, Franco Bergesio, Gabriele Ciuti, Maria Cristina Porciani, Luigi Padeletti, Alberto Moggi Pignone

Research output: Contribution to journalArticlepeer-review


Amyloidosis comprises a unique group of diseases that share in common the extracellular deposition of insoluble fibrillar proteins in organs and tissue including the heart. Cardiac amyloidosis could be primary a part of systemic acquired amyloidosis, or a result of heredofamilial amyloidosis. Although the infiltration of the heart from different types of amyloid results in restrictive cardiomyopathy that manifests with refractory congestive heart failure and conduction abnormalities, unequivocal identification of the deposited amyloidogenic protein is mandatory in order to avoid misdiagnosis and inappropriate treatment. Recent developments in imaging techniques and extracardiac tissue biopsy have minimized the need for invasive endomyocardial biopsy for amyloidosis. Despite advances in treatment, the prognosis of a patient with amyloidosis is still poor and depends upon the underlying disease, and the type and degree of dysfunction of the involved organs. Thus, early diagnosis is mandatory because patients with advanced disease are usually too ill for intensive therapy. This review outlines current approaches to diagnosis, assessment of disease severity, and treatment of cardiac amyloidosis.

Original languageEnglish
Pages (from-to)191-203
Number of pages13
JournalInternal and Emergency Medicine
Issue number3
Publication statusPublished - 2013


  • Amyloidosis
  • Restrictive cardiomyopathy
  • Tissue Doppler imaging
  • Transthyretin

ASJC Scopus subject areas

  • Emergency Medicine
  • Internal Medicine


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