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

Autor:	Verstraelen TE; Heart Center, Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands., van Lint FHM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands., Bosman LP; University Medical Center Utrecht, Division Heart and Lungs, Department of Cardiology, University of Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands., de Brouwer R; University Medical Center Groningen, Department of Cardiology, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, Netherlands., Proost VM; Heart Center, Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands., Abeln BGS; Heart Center, Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands., Taha K; University Medical Center Utrecht, Division Heart and Lungs, Department of Cardiology, University of Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands., Zwinderman AH; Department of Clinical Epidemiology and Biostatistics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands., Dickhoff C; Department of Cardiology, Dijklander Ziekenhuis Hoorn, Maelsonstraat 3, 1624 NP, Hoorn, Netherlands., Oomen T; Department of Cardiology, Antonius Ziekenhuis Sneek, Bolswarderbaan 1, 8601 ZK Sneek, Netherlands., Schoonderwoerd BA; Medical Center Leeuwarden, Department of Cardiology, Henri Dunantweg 2, 8934 AD, Leeuwarden, Netherlands., Kimman GP; Department of Cardiology, Noordwest Ziekenhuisgroep, Wilhelminalaan 12, 1815 JD, Alkmaar, Netherlands., Houweling AC; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands., Gimeno-Blanes JR; Department of Cardiology, Virgen de Arrixaca Hospital, Ctra,Murcia-Cartagena, s/n, 30120 El Palmar, Murcia, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARDHEART)., Asselbergs FW; University Medical Center Utrecht, Division Heart and Lungs, Department of Cardiology, University of Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands.; Institute of Cardiovascular Science and Institute of Health Informatics, Faculty of Population Health Sciences, University College London, Gower St, London WC1E 6BT, UK., van der Zwaag PA; University Medical Center Groningen, Department of Clinical Genetics, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, Netherlands., de Boer RA; University Medical Center Groningen, Department of Cardiology, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, Netherlands., van den Berg MP; University Medical Center Groningen, Department of Cardiology, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, Netherlands., van Tintelen JP; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands., Wilde AAM; Heart Center, Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARDHEART).
Jazyk:	angličtina
Zdroj:	European heart journal [Eur Heart J] 2021 Jul 31; Vol. 42 (29), pp. 2842-2850.
DOI:	10.1093/eurheartj/ehab294
Abstrakt:	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. (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.)
Databáze:	MEDLINE
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