• Tex Heart Inst J · Jan 1997

    Case Reports

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

    • D R Jacobson, M Ittmann, J N Buxbaum, R Wieczorek, and P D Gorevic.
    • Department of Medicine, New York University Medical Center, New York, USA.
    • Tex Heart Inst J. 1997 Jan 1; 24 (1): 45-52.

    AbstractTwo 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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