ArticleCirculation. Genomic and precision medicine2019
Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.
Article in Circulation. Genomic and precision medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.Circulation. Genomic and precision medicine · 2021Trial
- Biologics for cardiovascular diseases: from bench to bedside.Signal transduction and targeted therapy · 2026Review
- Evidence of variations in genetic prevalence for loss-of-functionGenetics in medicine open · 2026Article
- Genome-First Arrhythmogenic Right Ventricular Cardiomyopathy Penetrance Is Not Correlated With Lifetime Exercise History.JACC. Advances · 2026Article
- Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.European journal of human genetics : EJHG · 2026Article
- Improved diagnosis of arrhythmogenic right ventricular cardiomyopathy using electrocardiographic deep learning.Heart rhythm · 2025Article
- Predicted Risk of Ventricular Arrhythmias in a Genome-First Population With Genetic Risk for Arrhythmogenic Right Ventricular Cardiomyopathy.Circulation. Arrhythmia and electrophysiology · 2025Article
- Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.Journal of the American Heart Association · 2024Review
- A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.Journal of cardiovascular translational research · 2023Article
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.Circulation. Genomic and precision medicine · 2022Article
- Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.Circulation. Genomic and precision medicine · 2022Article
- Hidden Risk: Arrhythmogenic Genes in the General Population.Circulation. Genomic and precision medicine · 2022Article
- Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.Human mutation · 2022Article
- Loss-of-FunctionCirculation. Genomic and precision medicine · 2022Article
- Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.Circulation · 2022Article
- Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.Circulation. Genomic and precision medicine · 2022Article
- Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.International journal of molecular sciences · 2022Article
- A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.Frontiers in genetics · 2022Article
- Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.JACC. CardioOncology · 2021Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants, primarily loss-of-function (LOF) variants, are recommended for clinical reporting; however, their prevalence and associated phenotype in a general clinical population are not fully characterized.
methodsFrom whole-exome sequencing of 61 019 individuals in the DiscovEHR cohort, we screened for putative loss-of-function variants in
resultsOne hundred forty individuals (0.23%; 59±18 years old at last encounter; 33% male) had an ARVC variant (G
conclusionsThe prevalence of ARVC loss-of-function variants is ≈1:435 in a general clinical population of predominantly European descent, but with limited electronic health record-based evidence of phenotypic association in our population, consistent with a low penetrance estimate. Prospective deep phenotyping and longitudinal follow-up of a large sequenced cohort is needed to determine the true clinical relevance of an incidentally identified ARVC loss-of-function variant.
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