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

Year: 1997

Type: article

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.

Source: Europe PMC (PubMed Central)

Authors: D R Jacobson, M Ittmann, J N Buxbaum, R Wieczorek, P D Gorevic

Institutions: NYU Langone Health, New York University

Language: English

Topic: Amyloidosis: Diagnosis, Treatment, Outcomes

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W1511095309

FWCI: 0.338

Cites: 27

Cited by: 22

Related to: 10