Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina.

ABSTRACT:

Background

In Argentina, there is limited data of prevalence of variant transthyretin amyloidosis (ATTRv) and phenotype-genotype correlation. The laboratory of Hospital Italiano de Buenos Aires (HIBA) is a reference center for transthyretin (TTR) gene sequencing. The Institutional Amyloidosis Registry (RIA) enable us to characterize people with ATTRv. Our aim was to describe the prevalence of TTR mutations at a reference center in Argentina and the phenotypic presentations of patients with ATTRv included in an institutional registry.

Methods

Retrospective cohort study of consecutive patients with genetic variants in the TTR gene identified from 2012 to 2019 in the laboratory. We collected all phenotypic characteristics of patients who were clinically evaluated by HIBA doctor

SUBMITTER: Saez MS 

PROVIDER: S-EPMC8606196 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature