TRANSTHYRETIN ILE-122 AND CARDIAC AMYLOIDOSIS IN AFRICAN-AMERICANS - 2 CASE-REPORTS

Two cases of cardiac amyloidosis resulting from deposition of the lie 122 variant of transthyretin in African-Americans are presented. These cases illustrate several typical features of this disorder, including electrocardiographic abnormalities and digoxin toxicity. Transthyreti n lie 122 is a common amyloidogenic variant in African-Americans (pres ent as a heterozygous variant in 4% of this population); therefore, th e diagnosis of transthyretin lie 122 cardiac amyloidosis should be con sidered in African-Americans with unexplained restrictive cardiomyopat hy or arrhythmias.