Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification

Background and Aims Patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) are at risk for potentially life-threatening arrhythmic events (AEs) even while treated with beta-blockers. The aim was to develop a model for individualized prediction of AEs in patients with RYR2-mediate...

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Authors: Lieve, KV, van der Werf, C, Kallas, D, Denjoy, I, Bos, JM, Aiba, T, Behr, ER, van den Berg, MP, Bergeman, AT, Blom, NA, Borggrefe, M, Brugada, R, Mora, LMC, Chorin, E, Crotti, L, Davis, A, Drago, F, Dusi, V, Extramiana, F, Franciosi, S, Giudicessi, JR, Llopis, FAG, Haugaa, KH, van den Heuvel, F, Horie, M, Ingles, J, Kammeraad, J, Kannankeril, PJ, Khan, HR, Krahn, AD, MacIntyre, C, Maltret, A, Marjamaa, A, Ohno, S, Peltenburg, PJ, Perez, GJ, Probst, V, Roberts, JD, Robyns, T, Rootwelt-Norberg, C, Noguer, FRI, Roston, TM, Rydberg, A, Sacher, F, Sarquella-Brugada, G, Schwartz, PJ, Semsarian, C, Shimizu, W, Starling, L, Sumitomo, N, Skinner, JR, Tavacova, T, Tfelt-Hansen, J, Till, JA, Yap, SC, Wada, Y, Wangüemert, F, Zorio, E, Ackerman, MJ, Leenhardt, A, Sanatani, S, Tanck, MW, Wilde, AA
Format: article
Status:Published version
Publication Date:2025
Country:España
Institution:Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Repository:r-FISABIO. Repositorio Institucional de Producción Científica
OAI Identifier:oai:fisabio.fundanetsuite.com:p20302
Online Access:https://fisabio.portalinvestigacion.com/publicaciones/20302
Access Level:Open access
Keyword:Catecholaminergic polymorphic ventricular tachycardia
beta-Blockers
Risk stratification
Sudden cardiac death
Ventricular arrhythmias
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spelling Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratificationLieve, KVvan der Werf, CKallas, DDenjoy, IBos, JMAiba, TBehr, ERvan den Berg, MPBergeman, ATBlom, NABorggrefe, MBrugada, RMora, LMCChorin, ECrotti, LDavis, ADrago, FDusi, VExtramiana, FFranciosi, SGiudicessi, JRLlopis, FAGHaugaa, KHvan den Heuvel, FHorie, MIngles, JKammeraad, JKannankeril, PJKhan, HRKrahn, ADMacIntyre, CMaltret, AMarjamaa, AOhno, SPeltenburg, PJPerez, GJProbst, VRoberts, JDRobyns, TRootwelt-Norberg, CNoguer, FRIRoston, TMRydberg, ASacher, FSarquella-Brugada, GSchwartz, PJSemsarian, CShimizu, WStarling, LSumitomo, NSkinner, JRTavacova, TTfelt-Hansen, JTill, JAYap, SCWada, YWangüemert, FZorio, EAckerman, MJLeenhardt, ASanatani, STanck, MWWilde, AACatecholaminergic polymorphic ventricular tachycardiabeta-BlockersRisk stratificationSudden cardiac deathVentricular arrhythmiasBackground and Aims Patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) are at risk for potentially life-threatening arrhythmic events (AEs) even while treated with beta-blockers. The aim was to develop a model for individualized prediction of AEs in patients with RYR2-mediated CPVT on beta-blocker monotherapy.Methods The derivation and independent validation cohorts included 743 and 129 patients, respectively. AEs were defined as arrhythmic syncope, appropriate implantable cardioverter-defibrillator shock, sudden cardiac arrest (SCA), and sudden cardiac death. Near-fatal or fatal AEs (nf/fAEs) included all AEs except for arrhythmic syncope. Prediction models using Cox regression were developed and internally and externally validated.Results A total of 102 (13.7%) patients in the derivation cohort and 24 (18.6%) patients in the validation cohort experienced >= 1 AE over a median follow-up of 5.1 [interquartile range (IQR), 7.7] and 2.4 (IQR, 4.4) years, respectively. Predictors of AE were arrhythmic syncope or SCA prior to diagnosis and age at beta-blocker initiation. In the derivation and validation cohorts, the optimism-corrected C-indices of the models for AE were 0.67 [95% confidence interval (CI) 0.62-0.72] and 0.59 (95% CI 0.48-0.71), respectively. For nf/fAEs, ventricular arrhythmia severity before beta-blocker initiation was a fourth independent predictor, and C-indices of the models in the derivation and validation cohorts were 0.74 (95% CI 0.68-0.80) and 0.60 (95% CI 0.47-0.72), respectively. In the derivation cohort, calibration slopes were 1.00 (95% CI 0.59-1.41) for AE and 1.00 (95% CI 0.69-1.32) for nf/fAE.Conclusions These externally validated risk prediction models using clinical parameters accurately distinguished CPVT patients on beta-blocker monotherapy at low and high risk for future AEs while treated with beta-blockers. These models provide guidance for implementation of clinical management therapies to prevent AEs in patients with CPVT.OXFORD UNIV PRESS2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fisabio.portalinvestigacion.com/publicaciones/20302EUROPEAN HEART JOURNALISSN: 0195668XISSNe: 15229645reponame:r-FISABIO. Repositorio Institucional de Producción Científicainstname:Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)Inglésinfo:eu-repo/semantics/openAccessoai:fisabio.fundanetsuite.com:p203022026-06-11T12:45:17Z
dc.title.none.fl_str_mv Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
title Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
spellingShingle Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
Lieve, KV
Catecholaminergic polymorphic ventricular tachycardia
beta-Blockers
Risk stratification
Sudden cardiac death
Ventricular arrhythmias
title_short Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
title_full Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
title_fullStr Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
title_full_unstemmed Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
title_sort Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification
dc.creator.none.fl_str_mv Lieve, KV
van der Werf, C
Kallas, D
Denjoy, I
Bos, JM
Aiba, T
Behr, ER
van den Berg, MP
Bergeman, AT
Blom, NA
Borggrefe, M
Brugada, R
Mora, LMC
Chorin, E
Crotti, L
Davis, A
Drago, F
Dusi, V
Extramiana, F
Franciosi, S
Giudicessi, JR
Llopis, FAG
Haugaa, KH
van den Heuvel, F
Horie, M
Ingles, J
Kammeraad, J
Kannankeril, PJ
Khan, HR
Krahn, AD
MacIntyre, C
Maltret, A
Marjamaa, A
Ohno, S
Peltenburg, PJ
Perez, GJ
Probst, V
Roberts, JD
Robyns, T
Rootwelt-Norberg, C
Noguer, FRI
Roston, TM
Rydberg, A
Sacher, F
Sarquella-Brugada, G
Schwartz, PJ
Semsarian, C
Shimizu, W
Starling, L
Sumitomo, N
Skinner, JR
Tavacova, T
Tfelt-Hansen, J
Till, JA
Yap, SC
Wada, Y
Wangüemert, F
Zorio, E
Ackerman, MJ
Leenhardt, A
Sanatani, S
Tanck, MW
Wilde, AA
author Lieve, KV
author_facet Lieve, KV
van der Werf, C
Kallas, D
Denjoy, I
Bos, JM
Aiba, T
Behr, ER
van den Berg, MP
Bergeman, AT
Blom, NA
Borggrefe, M
Brugada, R
Mora, LMC
Chorin, E
Crotti, L
Davis, A
Drago, F
Dusi, V
Extramiana, F
Franciosi, S
Giudicessi, JR
Llopis, FAG
Haugaa, KH
van den Heuvel, F
Horie, M
Ingles, J
Kammeraad, J
Kannankeril, PJ
Khan, HR
Krahn, AD
MacIntyre, C
Maltret, A
Marjamaa, A
Ohno, S
Peltenburg, PJ
Perez, GJ
Probst, V
Roberts, JD
Robyns, T
Rootwelt-Norberg, C
Noguer, FRI
Roston, TM
Rydberg, A
Sacher, F
Sarquella-Brugada, G
Schwartz, PJ
Semsarian, C
Shimizu, W
Starling, L
Sumitomo, N
Skinner, JR
Tavacova, T
Tfelt-Hansen, J
Till, JA
Yap, SC
Wada, Y
Wangüemert, F
Zorio, E
Ackerman, MJ
Leenhardt, A
Sanatani, S
Tanck, MW
Wilde, AA
author_role author
author2 van der Werf, C
Kallas, D
Denjoy, I
Bos, JM
Aiba, T
Behr, ER
van den Berg, MP
Bergeman, AT
Blom, NA
Borggrefe, M
Brugada, R
Mora, LMC
Chorin, E
Crotti, L
Davis, A
Drago, F
Dusi, V
Extramiana, F
Franciosi, S
Giudicessi, JR
Llopis, FAG
Haugaa, KH
van den Heuvel, F
Horie, M
Ingles, J
Kammeraad, J
Kannankeril, PJ
Khan, HR
Krahn, AD
MacIntyre, C
Maltret, A
Marjamaa, A
Ohno, S
Peltenburg, PJ
Perez, GJ
Probst, V
Roberts, JD
Robyns, T
Rootwelt-Norberg, C
Noguer, FRI
Roston, TM
Rydberg, A
Sacher, F
Sarquella-Brugada, G
Schwartz, PJ
Semsarian, C
Shimizu, W
Starling, L
Sumitomo, N
Skinner, JR
Tavacova, T
Tfelt-Hansen, J
Till, JA
Yap, SC
Wada, Y
Wangüemert, F
Zorio, E
Ackerman, MJ
Leenhardt, A
Sanatani, S
Tanck, MW
Wilde, AA
author2_role author
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author
author
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author
author
author
author
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author
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author
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author
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author
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dc.subject.none.fl_str_mv Catecholaminergic polymorphic ventricular tachycardia
beta-Blockers
Risk stratification
Sudden cardiac death
Ventricular arrhythmias
topic Catecholaminergic polymorphic ventricular tachycardia
beta-Blockers
Risk stratification
Sudden cardiac death
Ventricular arrhythmias
description Background and Aims Patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) are at risk for potentially life-threatening arrhythmic events (AEs) even while treated with beta-blockers. The aim was to develop a model for individualized prediction of AEs in patients with RYR2-mediated CPVT on beta-blocker monotherapy.Methods The derivation and independent validation cohorts included 743 and 129 patients, respectively. AEs were defined as arrhythmic syncope, appropriate implantable cardioverter-defibrillator shock, sudden cardiac arrest (SCA), and sudden cardiac death. Near-fatal or fatal AEs (nf/fAEs) included all AEs except for arrhythmic syncope. Prediction models using Cox regression were developed and internally and externally validated.Results A total of 102 (13.7%) patients in the derivation cohort and 24 (18.6%) patients in the validation cohort experienced >= 1 AE over a median follow-up of 5.1 [interquartile range (IQR), 7.7] and 2.4 (IQR, 4.4) years, respectively. Predictors of AE were arrhythmic syncope or SCA prior to diagnosis and age at beta-blocker initiation. In the derivation and validation cohorts, the optimism-corrected C-indices of the models for AE were 0.67 [95% confidence interval (CI) 0.62-0.72] and 0.59 (95% CI 0.48-0.71), respectively. For nf/fAEs, ventricular arrhythmia severity before beta-blocker initiation was a fourth independent predictor, and C-indices of the models in the derivation and validation cohorts were 0.74 (95% CI 0.68-0.80) and 0.60 (95% CI 0.47-0.72), respectively. In the derivation cohort, calibration slopes were 1.00 (95% CI 0.59-1.41) for AE and 1.00 (95% CI 0.69-1.32) for nf/fAE.Conclusions These externally validated risk prediction models using clinical parameters accurately distinguished CPVT patients on beta-blocker monotherapy at low and high risk for future AEs while treated with beta-blockers. These models provide guidance for implementation of clinical management therapies to prevent AEs in patients with CPVT.
publishDate 2025
dc.date.none.fl_str_mv 2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fisabio.portalinvestigacion.com/publicaciones/20302
url https://fisabio.portalinvestigacion.com/publicaciones/20302
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv OXFORD UNIV PRESS
publisher.none.fl_str_mv OXFORD UNIV PRESS
dc.source.none.fl_str_mv EUROPEAN HEART JOURNAL
ISSN: 0195668X
ISSNe: 15229645
reponame:r-FISABIO. Repositorio Institucional de Producción Científica
instname:Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
instname_str Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
reponame_str r-FISABIO. Repositorio Institucional de Producción Científica
collection r-FISABIO. Repositorio Institucional de Producción Científica
repository.name.fl_str_mv
repository.mail.fl_str_mv
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