Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports

Tex Heart Inst J. 1997;24(1):45-52.

Abstract

Two cases of cardiac amyloidosis resulting from deposition of the Ile 122 variant of transthyretin in African-Americans are presented. These cases illustrate several typical features of this disorder, including electrocardiographic abnormalities and digoxin toxicity. Transthyretin Ile 122 is a common amyloidogenic variant in African-Americans (present as a heterozygous variant in 4% of this population); therefore, the diagnosis of transthyretin Ile 122 cardiac amyloidosis should be considered in African-Americans with unexplained restrictive cardiomyopathy or arrhythmias.

Publication types

  • Case Reports

MeSH terms

  • African Continental Ancestry Group / genetics*
  • Aged
  • Aged, 80 and over
  • Alleles
  • Amyloidosis / diagnosis
  • Amyloidosis / genetics*
  • Amyloidosis / pathology
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Electrocardiography
  • Fatal Outcome
  • Genetic Variation
  • Humans
  • Male
  • Myocardium / pathology
  • Point Mutation
  • Prealbumin / genetics*

Substances

  • Prealbumin