Transthyretin Cardiac Amyloidosis in Black Americans

Circ Heart Fail. 2016 Jun;9(6):e002558. doi: 10.1161/CIRCHEARTFAILURE.115.002558.

Abstract

Transthyretin-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive and hypertrophic heart disease and often goes undiagnosed. In the United States, the hereditary form disproportionately afflicts black Americans, who when compared with whites with wild-type transthyretin amyloidosis, a phenotypically similar condition, present with more advanced disease despite having a noninvasive method for early identification (genetic testing). Although reasons for this are unclear, this begs to consider the inadequate access to care, societal factors, or a biological basis. In an effort to improve awareness and explore unique characteristics, we review the pathophysiology, epidemiology, and therapeutic strategies for transthyretin amyloidosis and highlight diagnostic pitfalls and clinical pearls for identifying patients with amyloid heart disease.

Keywords: African Continental Ancestry Group; amyloidosis; cardiomyopathy, restrictive; continental population groups; heart failure; prealbumin.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid Neuropathies, Familial / ethnology*
  • Amyloid Neuropathies, Familial / genetics*
  • Amyloid Neuropathies, Familial / physiopathology
  • Amyloid Neuropathies, Familial / therapy
  • Black or African American / genetics*
  • Cardiomyopathies / ethnology*
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / physiopathology
  • Cardiomyopathies / therapy
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Mutation*
  • Phenotype
  • Prealbumin / genetics*
  • Predictive Value of Tests
  • Prognosis

Substances

  • Prealbumin

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related