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Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction

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dc.contributor.author Verstraelen, Tom-E
dc.contributor.author Van-Lint, Freyja-H-M
dc.contributor.author Bosman, Laurens-P
dc.contributor.author De-Brouwer, Remco
dc.contributor.author Proost, Virginnio-M
dc.contributor.author Abeln, Bob-G-S
dc.contributor.author Taha, Karim
dc.contributor.author Zwinderman, Aeilko-H
dc.contributor.author Dickhoff, Cathelijne
dc.contributor.author Oomen, Toon
dc.contributor.author Schoonderwoerd, Bas-A
dc.contributor.author Kimman, Gerardus-P
dc.contributor.author Houweling, Arjan-C
dc.contributor.author Gimeno-Blanes, Juan-R
dc.contributor.author Asselbergs, Folkert-W
dc.contributor.author Van-Der-Zwaag, Paul-A
dc.contributor.author De-Boer, Rudolf-A
dc.contributor.author Van-Den-Berg, Maarten-P
dc.contributor.author Van-Tintelen, J-Peter
dc.contributor.author Wilde, Arthur-A-M
dc.date.accessioned 2025-05-06T10:41:51Z
dc.date.available 2025-05-06T10:41:51Z
dc.date.issued 2021
dc.identifier.citation Verstraelen TE, van Lint FHM, Bosman LP, de Brouwer R, Proost VM, Abeln BGS, et al. Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction. Eur Heart J. 31 de julio de 2021;42(29):2842-50.
dc.identifier.issn 1522-9645
dc.identifier.uri https://sms.carm.es/ricsmur/handle/123456789/18831
dc.description.abstract AIMS: This 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 RESULTS: Data 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). CONCLUSION: This 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.
dc.language.iso eng
dc.publisher Oxford University Press
dc.rights Atribución-NoComercial-SinDerivadas 4.0 España
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es *
dc.subject.mesh Adult
dc.subject.mesh Arrhythmias, Cardiac/genetics
dc.subject.mesh Calcium-Binding Proteins/genetics
dc.subject.mesh Death, Sudden, Cardiac/etiology
dc.subject.mesh Defibrillators, Implantable
dc.subject.mesh Female
dc.subject.mesh Humans
dc.subject.mesh Male
dc.subject.mesh Mutation
dc.subject.mesh Risk Factors
dc.subject.mesh Stroke Volume
dc.subject.mesh Ventricular Function, Left
dc.title Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction
dc.type info:eu-repo/semantics/article
dc.identifier.pmid 34113975
dc.relation.publisherversion https://dx.doi.org/10.1093/eurheartj/ehab294
dc.type.version info:eu-repo/semantics/publishedVersion
dc.identifier.doi 10.1093/eurheartj/ehab294
dc.journal.title European Heart Journal
dc.identifier.essn 0195-668X


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