Cardiovascular Burden of the V142I Transthyretin Variant.

ABSTRACT:

Importance

Individual cohort studies concur that the amyloidogenic V142I variant of the transthyretin (TTR) gene, present in 3% to 4% of US Black individuals, increases heart failure (HF) and mortality risk. Precisely defining carrier risk across relevant clinical outcomes and estimating population burden of disease are important given established and emerging targeted treatments.

Objectives

To better define the natural history of disease in carriers across mid to late life, assess variant modifiers, and estimate cardiovascular burden to the US population.

Design, setting, and participants

A total of 23 338 self-reported Black participants initially free from HF were included in 4 large observational studies across the US (mean [SD], 15.5 [8.2] years of follow-up). Da

SUBMITTER: Selvaraj S 

PROVIDER: S-EPMC11089467 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature