Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis

J Am Coll Cardiol. 2015 Dec 1;66(21):2451-2466. doi: 10.1016/j.jacc.2015.09.075.

Abstract

Transthyretin amyloidosis is a fatal disorder that is characterized primarily by progressive neuropathy and cardiomyopathy. It occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predominant cardiac involvement). This article guides clinicians as to when the disease should be suspected, describes the appropriate diagnostic evaluation for those with known or suspected amyloidosis, and reviews the interventions currently available for affected patients.

Keywords: familial amyloid cardiomyopathy; familial amyloid polyneuropathy; genetics; liver transplantation.

Publication types

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

MeSH terms

  • Amyloid Neuropathies, Familial / diagnosis*
  • Amyloid Neuropathies, Familial / epidemiology
  • Amyloid Neuropathies, Familial / therapy*
  • Animals
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / epidemiology
  • Cardiomyopathies / therapy
  • Humans
  • Prognosis

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related