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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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)
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Chemical References |
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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)
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