ArticleEuropean heart journal2021
Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.
Article in European heart journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 4 of them syntheses that pooled it.
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Who cites it
74 citing papers in PubMed, 4 syntheses or guidelines pooled it, 141 citations in OpenAlex.
- Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026Pooled it
- ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- Diagnosis and management of dilated cardiomyopathy: a systematic review of clinical practice guidelines and recommendations.European heart journal. Quality of care & clinical outcomes · 2025Pooled it
- Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.Circulation. Genomic and precision medicine · 2024Guideline
- Arrhythmogenic right ventricular cardiomyopathy.European heart journal · 2026Review
- The Dutch cardiomyopathy registry (DCR); rationale and registry design.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2026Article
- Redefining Sudden Cardiac Death Risk Stratification in Dilated Cardiomyopathy: An Integrative Approach.Reviews in cardiovascular medicine · 2026Review
- Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.Journal of cardiovascular translational research · 2026Article
- Genetic counselling implementation in dilated cardiomyopathy.European heart journal · 2026Review
- Epidemiology of non-ischaemic dilated cardiomyopathy.Nature reviews. Cardiology · 2026Review
- Physical activity and competitive sport safety for children affected by inherited cardiac conditions and selected acquired cardiomyopathies: emerging evidence and areas for further inquiry.European journal of pediatrics · 2026Review
- Pediatric dilated cardiomyopathy and the progression to heart failure: mechanisms and interventions focusing on the "gene-inflammation-metabolism" axis.Frontiers in cardiovascular medicine · 2026Review
- Body surface potential mapping of ventricular depolarization and repolarization in phospholamban and plakophilin-2 cardiomyopathy.Heart rhythm O2 · 2026Article
- A TNNT2 variant in a sporadic case of dilated cardiomyopathy: a case report and review.Frontiers in cardiovascular medicine · 2026Article
- Genetic Dilated Cardiomyopathy: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.European heart journal · 2025Article
- What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025Review
- Age-related penetrance of phospholamban p.Arg14del cardiomyopathy.European journal of heart failure · 2025Article
- Impact of genotype-phenotype associations on prognosis in dilated cardiomyopathy.European journal of heart failure · 2025Article
- Clinical care of family members of patients with dilated cardiomyopathy.European heart journal · 2025Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsThis study aims to improve risk stratification for primary prevention implantable cardioverter defibrillator (ICD) implantation by developing a new mutation-specific prediction model for malignant ventricular arrhythmia (VA) in phospholamban (PLN) p.Arg14del mutation carriers. The proposed model is compared to an existing PLN risk model. METHODS AND
resultsData were collected from PLN p.Arg14del mutation carriers with no history of malignant VA at baseline, identified between 2009 and 2020. Malignant VA was defined as sustained VA, appropriate ICD intervention, or (aborted) sudden cardiac death. A prediction model was developed using Cox regression. The study cohort consisted of 679 PLN p.Arg14del mutation carriers, with a minority of index patients (17%) and male sex (43%), and a median age of 42 years [interquartile range (IQR) 27-55]. During a median follow-up of 4.3 years (IQR 1.7-7.4), 72 (10.6%) carriers experienced malignant VA. Significant predictors were left ventricular ejection fraction, premature ventricular contraction count/24 h, amount of negative T waves, and presence of low-voltage electrocardiogram. The multivariable model had an excellent discriminative ability {C-statistic 0.83 [95% confidence interval (CI) 0.78-0.88]}. Applying the existing PLN risk model to the complete cohort yielded a C-statistic of 0.68 (95% CI 0.61-0.75).
conclusionThis new mutation-specific prediction model for individual VA risk in PLN p.Arg14del mutation carriers is superior to the existing PLN risk model, suggesting that risk prediction using mutation-specific phenotypic features can improve accuracy compared to a more generic approach.
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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.