Article
Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.
JAMA cardiology - 1 Nov 2024
Aung Nay, Nicholls Hannah L, Chahal C Anwar A, Khanji Mohammed Y, Rauseo Elisa, Chadalavada Sucharitha, Petersen Steffen E, Munroe Patricia B, Elliott Perry M, Lopes Luis R
Abstract excerpt
Importance: The population prevalence of cardiac transthyretin amyloidosis (ATTR) caused by pathogenic variation in the TTR gene (vATTR) is unknown. Objective: To estimate the population prevalence of disease-causing TTR variants and evaluate associated phenotypes and outcomes. Design, Setting, and Participants: This population-based cohort study analyzed UK Biobank (UKB) participants with whole-exome sequencing,...
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