Cardiac involvement in hereditary-transthyretin related amyloidosis

Amyloid. 2012 Jun:19 Suppl 1:16-21. doi: 10.3109/13506129.2012.673185. Epub 2012 Apr 12.


Hereditary transthyretin-related amyloidosis remains a widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to strictly cardiac manifestations. This heterogeneity is linked to several factors including specific transthyretin mutations, geographic distribution and endemic vs. non-endemic aggregation type. The existence of exclusively or predominantly cardiac phenotypes makes the recognition of the disease very challenging since it can mimic other more common causes of left ventricular "hypertrophy". Assessment of such patients should include an active search for possible red flags that can indicate the correct final diagnosis.

Publication types

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

MeSH terms

  • Amyloidosis / diagnosis*
  • Amyloidosis / genetics
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / genetics
  • Heart / physiopathology*
  • Humans
  • Hypertrophy, Left Ventricular / diagnosis
  • Mutation
  • Prealbumin / genetics*


  • Prealbumin