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

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.

• Authors: D R Jacobson, M Ittmann, J N Buxbaum, R Wieczorek, P D Gorevic
• Journal: Texas Heart Institute journal (Tex Heart Inst J) Vol. 24 Issue 1 Pg. 45-52 ( 1997) ISSN: 0730-2347 [Print] United States
• PMID: 9068139 (Publication Type: Case Reports, Journal Article)

Chemical References

• Prealbumin

Topics

• Aged
• Aged, 80 and over
• Alleles
• Amyloidosis (diagnosis, genetics, pathology)
• Black People (genetics)
• Cardiomyopathies (diagnosis, genetics, pathology)
• Electrocardiography
• Fatal Outcome
• Genetic Variation
• Humans
• Male
• Myocardium (pathology)
• Point Mutation
• Prealbumin (genetics)