Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure
Background and Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM pa-aims tients with high-risk arrhythmic genotypes also develop more advanced heart failure (AHF) complications. AHF events were studied according to DCM genotype. Methods...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:dnet:recercat____::6c12c3908bce92687fc645425a1250a1 |
| Acceso en línea: | http://hdl.handle.net/10256/28844 https://hdl.handle.net/10256/28844 |
| Access Level: | acceso abierto |
| Palabra clave: | Genes Heart failure Prognosis Cor -- Malalties Heart -- Diseases Gens Insuficiència cardíaca Prognosi Sudden death Mort sobtada |
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Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure |
| title |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure |
| spellingShingle |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure Mora-Ayestarán, Nerea Genes Heart failure Prognosis Cor -- Malalties Heart -- Diseases Gens Insuficiència cardíaca Prognosi Sudden death Mort sobtada |
| title_short |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure |
| title_full |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure |
| title_fullStr |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure |
| title_full_unstemmed |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure |
| title_sort |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure |
| dc.creator.none.fl_str_mv |
Mora-Ayestarán, Nerea Ochoa, Juan Pablo Gómez-González, Cristina Navarro-Peñalver, Marina Gallego-Delgado, María Larrañaga-Moreira, José M. Robles-Mezcua, Ainhoa Basurte-Elorz, María Teresa Rodriguez-Palomares, Jose Fernando Climent-Paya, Vicente Jiménez-Jaímez, Juan Mogollón-Jiménez, Maria Victoria García-Granja, Pablo Elpidio García-Álvarez, Ana Peña-Peña, María Luisa Barredo, María Alvarez Ripoll-Vera, Tomas Palomino-Doza, Julián Bayes-Genis, Antoni Tirón, Coloma Fernández, Ana Isabel Sabater-Molina, María Toranzo, Inés Crespo-Leiro, María G. Doncel-Abad, Victoria Lacuey-Lecumberri, Gemma Limeres-Freire, Javier García-Álvarez, Maria I. Cabrera-Borrego, Eva El Maalem, Zineb Kounka Ait Vilches, Silvia González-López, Esther Villacorta, Eduardo García-Pinilla, José M. Barriales-Villa, Roberto Gimeno-Blanes, Juan Ramón Garcia-Pavia, Pablo Domínguez, Fernando |
| author |
Mora-Ayestarán, Nerea |
| author_facet |
Mora-Ayestarán, Nerea Ochoa, Juan Pablo Gómez-González, Cristina Navarro-Peñalver, Marina Gallego-Delgado, María Larrañaga-Moreira, José M. Robles-Mezcua, Ainhoa Basurte-Elorz, María Teresa Rodriguez-Palomares, Jose Fernando Climent-Paya, Vicente Jiménez-Jaímez, Juan Mogollón-Jiménez, Maria Victoria García-Granja, Pablo Elpidio García-Álvarez, Ana Peña-Peña, María Luisa Barredo, María Alvarez Ripoll-Vera, Tomas Palomino-Doza, Julián Bayes-Genis, Antoni Tirón, Coloma Fernández, Ana Isabel Sabater-Molina, María Toranzo, Inés Crespo-Leiro, María G. Doncel-Abad, Victoria Lacuey-Lecumberri, Gemma Limeres-Freire, Javier García-Álvarez, Maria I. Cabrera-Borrego, Eva El Maalem, Zineb Kounka Ait Vilches, Silvia González-López, Esther Villacorta, Eduardo García-Pinilla, José M. Barriales-Villa, Roberto Gimeno-Blanes, Juan Ramón Garcia-Pavia, Pablo Domínguez, Fernando |
| author_role |
author |
| author2 |
Ochoa, Juan Pablo Gómez-González, Cristina Navarro-Peñalver, Marina Gallego-Delgado, María Larrañaga-Moreira, José M. Robles-Mezcua, Ainhoa Basurte-Elorz, María Teresa Rodriguez-Palomares, Jose Fernando Climent-Paya, Vicente Jiménez-Jaímez, Juan Mogollón-Jiménez, Maria Victoria García-Granja, Pablo Elpidio García-Álvarez, Ana Peña-Peña, María Luisa Barredo, María Alvarez Ripoll-Vera, Tomas Palomino-Doza, Julián Bayes-Genis, Antoni Tirón, Coloma Fernández, Ana Isabel Sabater-Molina, María Toranzo, Inés Crespo-Leiro, María G. Doncel-Abad, Victoria Lacuey-Lecumberri, Gemma Limeres-Freire, Javier García-Álvarez, Maria I. Cabrera-Borrego, Eva El Maalem, Zineb Kounka Ait Vilches, Silvia González-López, Esther Villacorta, Eduardo García-Pinilla, José M. Barriales-Villa, Roberto Gimeno-Blanes, Juan Ramón Garcia-Pavia, Pablo Domínguez, Fernando |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Genes Heart failure Prognosis Cor -- Malalties Heart -- Diseases Gens Insuficiència cardíaca Prognosi Sudden death Mort sobtada |
| topic |
Genes Heart failure Prognosis Cor -- Malalties Heart -- Diseases Gens Insuficiència cardíaca Prognosi Sudden death Mort sobtada |
| description |
Background and Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM pa-aims tients with high-risk arrhythmic genotypes also develop more advanced heart failure (AHF) complications. AHF events were studied according to DCM genotype. Methods Clinical data from 1203 genotyped DCM patients were collected from 19 Spanish centres. Patients were classified into high-risk arrhythmic genotypes (LMNA, FLNC, desmosomal genes, PLN, TMEM43, RBM20), TTN, other genes, and genotype negative (Gen−). The primary endpoint was a composite of AHF events (ventricular assist device implantation, heart transplant, and AHF-related mortality). The secondary endpoint was a combination of malignant ventricular arrhythmias (MVA). Results A DCM-causing variant was identified in a high-risk arrhythmic gene in 185 patients (15.4%), 193 (16.0%) had variants in TTN, 134 (11.1%) in other genes, and 691 (57.4%) were Gen−. After a median follow-up of 5.7 years (interquartile range 2.9–9.1 years), AHF events occurred in 45 (24.3%) patients in the high-risk arrhythmic group, while in 25 (18.7%), 25 (13.0%), and 70 (10.1%) patients with other genotypes, TTN, and Gen−, respectively (hazard ratio 1.85, 95% confidence interval 1.31–2.61 for high-risk arrhythmic genes compared with other groups). MVA occurred in 55 patients (29.7%) (hazard ratio 2.52, 95% confidence interval 1.81–3.51 for high-risk genotypes vs other groups). High-risk arrhythmic genotype was the main independent predictor of AHF in multivariate analysis. High-risk arrhythmic genotype and late gadolinium enhancement were independent predictors of MVA. Conclusions Patients with high-risk arrhythmic genotypes also experience more AHF events, supporting a differential therapeutic approach in this group of patients beyond sudden death prevention. |
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2025 |
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2025 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion peer-reviewed |
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article |
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http://hdl.handle.net/10256/28844 https://hdl.handle.net/10256/28844 |
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http://hdl.handle.net/10256/28844 https://hdl.handle.net/10256/28844 |
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Inglés |
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Inglés |
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info:eu-repo/semantics/altIdentifier/doi/10.1093/eurheartj/ehaf605 info:eu-repo/semantics/altIdentifier/issn/0195-668X |
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Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/ info:eu-repo/semantics/openAccess |
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Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/ |
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openAccess |
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application/pdf |
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Oxford Academic |
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Oxford Academic |
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© European Heart Journal, any 2025, vol. 46, núm 48, p. 5222-5233 Articles publicats (D-CM) reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Recercat. Dipósit de la Recerca de Catalunya |
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Recercat. Dipósit de la Recerca de Catalunya |
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1869402655983403008 |
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Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failureMora-Ayestarán, NereaOchoa, Juan PabloGómez-González, CristinaNavarro-Peñalver, MarinaGallego-Delgado, MaríaLarrañaga-Moreira, José M.Robles-Mezcua, AinhoaBasurte-Elorz, María TeresaRodriguez-Palomares, Jose FernandoCliment-Paya, VicenteJiménez-Jaímez, JuanMogollón-Jiménez, Maria VictoriaGarcía-Granja, Pablo ElpidioGarcía-Álvarez, AnaPeña-Peña, María LuisaBarredo, María AlvarezRipoll-Vera, TomasPalomino-Doza, JuliánBayes-Genis, AntoniTirón, ColomaFernández, Ana IsabelSabater-Molina, MaríaToranzo, InésCrespo-Leiro, María G.Doncel-Abad, VictoriaLacuey-Lecumberri, GemmaLimeres-Freire, JavierGarcía-Álvarez, Maria I.Cabrera-Borrego, EvaEl Maalem, Zineb Kounka AitVilches, SilviaGonzález-López, EstherVillacorta, EduardoGarcía-Pinilla, José M.Barriales-Villa, RobertoGimeno-Blanes, Juan RamónGarcia-Pavia, PabloDomínguez, FernandoGenesHeart failurePrognosisCor -- MalaltiesHeart -- DiseasesGensInsuficiència cardíacaPrognosiSudden deathMort sobtadaBackground and Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM pa-aims tients with high-risk arrhythmic genotypes also develop more advanced heart failure (AHF) complications. AHF events were studied according to DCM genotype. Methods Clinical data from 1203 genotyped DCM patients were collected from 19 Spanish centres. Patients were classified into high-risk arrhythmic genotypes (LMNA, FLNC, desmosomal genes, PLN, TMEM43, RBM20), TTN, other genes, and genotype negative (Gen−). The primary endpoint was a composite of AHF events (ventricular assist device implantation, heart transplant, and AHF-related mortality). The secondary endpoint was a combination of malignant ventricular arrhythmias (MVA). Results A DCM-causing variant was identified in a high-risk arrhythmic gene in 185 patients (15.4%), 193 (16.0%) had variants in TTN, 134 (11.1%) in other genes, and 691 (57.4%) were Gen−. After a median follow-up of 5.7 years (interquartile range 2.9–9.1 years), AHF events occurred in 45 (24.3%) patients in the high-risk arrhythmic group, while in 25 (18.7%), 25 (13.0%), and 70 (10.1%) patients with other genotypes, TTN, and Gen−, respectively (hazard ratio 1.85, 95% confidence interval 1.31–2.61 for high-risk arrhythmic genes compared with other groups). MVA occurred in 55 patients (29.7%) (hazard ratio 2.52, 95% confidence interval 1.81–3.51 for high-risk genotypes vs other groups). High-risk arrhythmic genotype was the main independent predictor of AHF in multivariate analysis. High-risk arrhythmic genotype and late gadolinium enhancement were independent predictors of MVA. Conclusions Patients with high-risk arrhythmic genotypes also experience more AHF events, supporting a differential therapeutic approach in this group of patients beyond sudden death prevention.This work was supported by grants from Instituto de Salud Carlos III ‘PI20/0320’ (co-funded by European Regional Development Fund/European Social Fund ‘A way to make Europe’/‘Investing in your future’). The CNIC is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoa Centers of Excellence program (CEX2020-001041-S). The Hospital Universitario Puerta de Hierro, Hospital Clínic, Hospital Vall Hebron, Hospital Virgen del Rocío, Hospital Universitario Gregorio Marañon, and the Hospital Universitario Virgen de la Arrixaca are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart. P.G.-P. and F.D. were funded by the Pathfinder Cardiogenomics Programme of the European Innovation Council of the European Union (DCM-NEXT project; project 101115416).3Oxford Academic2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionpeer-reviewedapplication/pdfhttp://hdl.handle.net/10256/28844https://hdl.handle.net/10256/28844© European Heart Journal, any 2025, vol. 46, núm 48, p. 5222-5233Articles publicats (D-CM)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésinfo:eu-repo/semantics/altIdentifier/doi/10.1093/eurheartj/ehaf605info:eu-repo/semantics/altIdentifier/issn/0195-668XAttribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:dnet:recercat____::6c12c3908bce92687fc645425a1250a12026-05-29T05:05:01Z |
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15,81155 |