ArticleCirculation. Genomic and precision medicine2021
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.
Article in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
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- Evidence of variations in genetic prevalence for loss-of-functionGenetics in medicine open · 2026Article
- Age-related penetrance of phospholamban p.Arg14del cardiomyopathy.European journal of heart failure · 2025Article
- Improved diagnosis of arrhythmogenic right ventricular cardiomyopathy using electrocardiographic deep learning.Heart rhythm · 2025Article
- Genomic Screening at a Single Health System.JAMA network open · 2025Article
- Predicted Risk of Ventricular Arrhythmias in a Genome-First Population With Genetic Risk for Arrhythmogenic Right Ventricular Cardiomyopathy.Circulation. Arrhythmia and electrophysiology · 2025Article
- A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.European heart journal · 2024Article
- Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.Circulation. Genomic and precision medicine · 2023Article
- A desmoplakin variant associated with isolated arrhythmogenic left ventricular cardiomyopathy with rapid monomorphic ventricular tachycardia at first presentation.HeartRhythm case reports · 2023Article
- Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.JAMA · 2022Observational
- Loss-of-FunctionCirculation. Genomic and precision medicine · 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
- 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
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundGenomic screening holds great promise for presymptomatic identification of hidden disease, and prevention of dramatic events, including sudden cardiac death associated with arrhythmogenic cardiomyopathy (ACM). Herein, we present findings from clinical follow-up of carriers of ACM-associated pathogenic/likely pathogenic desmosome variants ascertained through genomic screening.
methodsOf 64 548 eligible participants in Geisinger MyCode Genomic Screening and Counseling program (2015-present), 92 individuals (0.14%) identified with pathogenic/likely pathogenic desmosome variants by clinical laboratory testing were referred for evaluation. We reviewed preresult medical history, patient-reported family history, and diagnostic testing results to assess both arrhythmogenic right ventricular cardiomyopathy and left-dominant ACM.
resultsOne carrier had a prior diagnosis of dilated cardiomyopathy with arrhythmia; no other related diagnoses or diagnostic family history criteria were reported. Fifty-nine carriers (64%) had diagnostic testing in follow-up. Excluding the variant, 21/59 carriers satisfied at least one arrhythmogenic right ventricular cardiomyopathy task force criterion, 11 (52%) of whom harbored
conclusionsGenomic screening for pathogenic/likely pathogenic variants in desmosome genes can uncover both left- and right-dominant ACM. Findings of overt cardiomyopathy were limited but were most common in
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