ArticleCirculation. Genomic and precision medicine2022
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Article in Circulation. Genomic and precision medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025Pooled it
- Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Circulation · 2024Pooled it
- Effects of SGLT2 inhibition on incident heart failure in carriers of cardiomyopathy-associated genetic variants.Nature medicine · 2026Trial
- Deep Survival Modeling With Echocardiographic Myocardial Texture Radiomics for Prediction of Major Adverse Cardiovascular Events in Hypertrophic Cardiomyopathy.Journal of cardiovascular translational research · 2026Article
- Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment.European journal of human genetics : EJHG · 2026Article
- Bridging the Gap Between Genetic Cardiomyopathies and Pregnancy.JACC. Advances · 2026Article
- Genotype-Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations.Health science reports · 2026Article
- Global epidemiology of myocarditis: disparities in age, sex and geography.Nature reviews. Cardiology · 2026Review
- Disease models and AAV therapies ofMolecular therapy. Advances · 2026Review
- Myocardial testosterone glucuronide and disease phenotypes in hypertrophic cardiomyopathy.ESC heart failure · 2026Article
- Mending the Achilles heels of titin in cardiac and musculoskeletal disease.Biophysical reviews · 2026Review
- Developing a phenotype risk score formedRxiv : the preprint server for health sciences · 2026Article
- Molecular Pathology of Cardiomyopathies: Bridging Morphology, Genomics, and Clinical Phenotypes.Current issues in molecular biology · 2026Review
- Cardiovascular Health and Outcomes in Carriers With Genetic Variants of Hypertrophic Cardiomyopathy.Mayo Clinic proceedings · 2026Article
- Development of a comprehensive cardiovascular disease genetic risk assessment test.Genetics in medicine open · 2026Article
- Atrial fibrillation in former world-class rowers: role of environmental and genetic factors.European heart journal · 2025Article
- The continuum of prevention and heart failure in cardiovascular medicine: A joint scientific statement from the Heart Failure Society of America and the American Society for Preventive Cardiology.American journal of preventive cardiology · 2025Review
- Age-related penetrance of phospholamban p.Arg14del cardiomyopathy.European journal of heart failure · 2025Article
- Congestive Heart Failure as Initial Manifestation of Biventricular Arrhythmogenic Cardiomyopathy With MYBPC3 and DSG2 Variants.JACC. Case reports · 2025Article
- Association of Pathogenic/Likely Pathogenic Inherited Cardiomyopathy Variants With Heart Failure: A TOPMed Multiancestry Analysis.Mayo Clinic proceedings · 2025Article
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundPathogenic and likely pathogenic variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM) are recommended to be reported as secondary findings in genome sequencing studies. This provides opportunities for early diagnosis, but also fuels uncertainty in variant carriers (G+), since disease penetrance is incomplete. We assessed the prevalence and disease expression of G+ in the general population.
methodsWe identified pathogenic and likely pathogenic variants associated with ARVC, DCM and/or HCM in 200 643 UK Biobank individuals, who underwent whole exome sequencing. We calculated the prevalence of G+ and analyzed the frequency of cardiomyopathy/heart failure diagnosis. In undiagnosed individuals, we analyzed early signs of disease expression using available electrocardiography and cardiac magnetic resonance imaging data.
resultsWe found a prevalence of 1:578, 1:251, and 1:149 for pathogenic and likely pathogenic variants associated with ARVC, DCM and HCM respectively. Compared with controls, cardiovascular mortality was higher in DCM G+ (odds ratio 1.67 [95% CI 1.04; 2.59],
conclusionsIn the general population, pathogenic and likely pathogenic variants associated with ARVC, DCM, or HCM are not uncommon. Although G+ have increased mortality and morbidity, disease penetrance in these carriers from the general population remains low (1.2-3.1%). Follow-up decisions in case of incidental findings should not be based solely on a variant, but on multiple factors, including family history and disease expression.
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