ArticleJournal of cardiac failure2022
Clinical Implications of the Amyloidogenic V122I Transthyretin Variant in the General Population.
Article in Journal of cardiac failure, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.European journal of nuclear medicine and molecular imaging · 2025Trial
- Identifying Subclinical Transthyretin Cardiac Amyloidosis in V142I TTR Carriers: Design, Rationale, and Methods of the VISTA (Variant Imaging of Subclinical Transthyretin Amyloidosis) Study.The American journal of cardiology · 2026Article
- Clinical and imaging profiling of restrictive cardiomyopathies: insights into amyloid, sarcoid, and iron overload phenotypes.Heart failure reviews · 2026Review
- Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142ICirculation. Genomic and precision medicine · 2025Article
- Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Circulation. Heart failure · 2025Review
- Biomarkers in Subclinical Transthyretin Cardiac Amyloidosis.Current heart failure reports · 2025Review
- Genotype- vs Phenotype-Guided Approaches to Improve ATTR Detection.JAMA cardiology · 2024Article
- Circulating transthyretin and retinol binding protein 4 levels among middle-age V122IAmyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2024Article
- Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers ofJournal of personalized medicine · 2024Article
- Practical Guidance for the Use of Patisiran in the Management of Polyneuropathy in Hereditary Transthyretin-Mediated Amyloidosis.Therapeutics and clinical risk management · 2023Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundThe V122I variant in transthyretin (TTR) is the most common amyloidogenic mutation worldwide. The aim of this study is to describe the cardiac phenotype and risk for adverse cardiovascular outcomes of young V122I TTR carriers in the general population. METHODS AND
resultsTTR genotypes were extracted from whole-exome sequence data in participants of the Dallas Heart Study. Participants with African ancestry, available V122I TTR genotypes (N = 1818) and either cardiac magnetic resonance imaging (n = 1364) or long-term follow-up (n = 1532) were included. The prevalence of V122I TTR carriers (45 ± 10 years) was 3.2% (n/N = 59/1818). The V122I TTR carriers had higher baseline left ventricular wall thickness (8.52 ± 1.82 vs 8.21 ± 1.62 mm, adjusted P = .038) than noncarriers, but no differences in other cardiac magnetic resonance imaging measures (P > .05 for all). Although carrier status was not associated with amino terminal pro-B-type natriuretic peptide (NT-proBNP) at baseline (P = .79), V122I TTR carriers had a greater increase in NT-proBNP on follow-up than noncarriers (median 28.5 pg/mL, interquartile range 11.4-104.1 pg/mL vs median 15.9 pg/mL, interquartile range 0.0-43.0 pg/mL, adjusted P = .018). V122I TTR carriers were at a higher adjusted risk of heart failure (hazard ratio 3.82, 95% confidence interval 1.80-8.13, P < .001), cardiovascular death (hazard ratio 2.65, 95% confidence interval 1.14-6.15, P = .023), and all-cause mortality (hazard ratio 1.95, 95% confidence interval 1.08-3.51, P = .026) in comparison with noncarriers.
conclusionsV122I TTR carrier status was associated with a greater increase in NT-proBNP, slightly greater left ventricular wall thickness, and a higher risk for heart failure, cardiovascular death, and all-cause mortality. These findings suggest the need to develop amyloidosis screening strategies for V122I TTR carriers.
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