Transthyretin-related amyloidoses and the heart: A clinical overview

Claudio Rapezzi, Candida Cristina Quarta, Letizia Riva, Simone Longhi, Ilaria Gallelli, Massimiliano Lorenzini, Paolo Ciliberti, Elena Biagini, Fabrizio Salvi, Angelo Branzi

Research output: Contribution to journalArticlepeer-review


A nonhereditary form of systemic amyloidosis associated with wild-type transthyretin causes heart involvement predominantly in elderly men (systemic senile amyloidosis, or SSA). However, hereditary transthyretin-related amyloidosis (ATTR) is the most frequent form of familial systemic amyloidosis, a group of severe diseases with variable neurological and organ involvement. ATTR remains a challenging and widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to a strictly cardiac presentation. Such heterogeneity principally results from differential effects of the various reported transthyretin mutations, the geographic region the patient is from and, in the case of the most common mutation, Val30Met, whether or not large foci of cases occur (endemic versus nonendemic aggregation). Genetic or environmental factors (such as age, sex, and amyloid fibril composition) also contribute to the heterogeneity of ATTR, albeit to a lesser extent. The existence of exclusively or predominantly cardiac phenotypes should lead clinicians to consider the possibility of ATTR in all patients who present with an unexplained increase in left ventricular wall thickness at echocardiography. Assessment of such patients should include an active search for possible red flags that can point to the correct final diagnosis.

Original languageEnglish
Pages (from-to)398-408
Number of pages11
JournalNature Reviews Cardiology
Issue number7
Publication statusPublished - Jul 2010

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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