ArticleJACC. CardioOncology2021
Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.
Article in JACC. CardioOncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Demographic Representation in Clinical Trials for Transthyretin-Associated Cardiac Amyloidosis: A Systematic Review.Reviews in cardiovascular medicine · 2026Pooled it
- Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.European journal of nuclear medicine and molecular imaging · 2025Trial
- Overcoming barriers to early diagnosis and treatment of p.Val142Ile amyloid transthyretin (ATTR) cardiomyopathy.Heart failure reviews · 2026Review
- Application of Omics Analysis in the Clinical Practice and Research of Transthyretin Amyloidosis.Genes · 2026Review
- Developing a phenotype risk score formedRxiv : the preprint server for health sciences · 2026Article
- Age-Dependent Contributions of Rare and Common Genetic Variation in Atrial Fibrillation.Circulation. Genomic and precision medicine · 2025Article
- Transthyretin Cardiac Amyloidosis in Older Black and Hispanic Individuals With Heart Failure.JAMA cardiology · 2025Article
- Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.Journal of clinical medicine · 2025Article
- TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.European journal of neurology · 2025Article
- Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.Journal of the American Heart Association · 2024Article
- Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.Biomedicines · 2022Review
- Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.Frontiers in cardiovascular medicine · 2022Article
- Toward Population-Based Genetic Screening for Hereditary Amyloidosis.JACC. CardioOncology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNew treatments for transthyretin amyloidosis improve survival, but diagnosis remains challenging. Pathogenic or likely pathogenic (P/LP) variants in the transthyretin (
objectivesThis study characterized the prevalence of P/LP variants in
methodsWe compared frequencies of common disease features and cardiac imaging findings between individuals with and without P/LP
resultsWe identified 157 of 134,753 (0.12%) individuals with P/LP
conclusionsIndividuals with P/LP
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.