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ABSTRACT: Background
The p.Val142Ile variant, predominantly found among people of African descent, is the most common cause of variant transthyretin amyloidosis and carriers predominantly develop a cardiomyopathy (variant transthyretin amyloidosis cardiomyopathy) phenotype. Yet, there are conflicting data on the prevalence and outcomes of p.Val142Ile variant carriers.Methods
We performed a systematic review of the prevalence and outcomes of p.Val142Ile variant transthyretin amyloidosis cardiomyopathy among subjects of African descent. We found 62 relevant articles after searching the MEDLINE databases from 1980 to 2020 that reported data for ≈150 000 subjects.Results
The reported worldwide prevalence of the p.Val142Ile variant is 0.3% to 1.6% in the general population. Among
SUBMITTER: Chandrashekar P
PROVIDER: S-EPMC8530896 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature