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. 1997;24(1):45–52.

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

D R Jacobson 1, M Ittmann 1, J N Buxbaum 1, R Wieczorek 1, P D Gorevic 1
PMCID: PMC325397  PMID: 9068139

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.

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Selected References

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