Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure
BACKGROUND AND AIMS: Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM patients with high-risk arrhythmic genotypes also develop more advanced heart failure (AHF) complications. AHF events were studied according to DCM genotype. METHODS:...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | artículo |
| Fecha de publicación: | 2025 |
| País: | España |
| Recursos: | Conselleria de Salut i Consum del Govern de les Illes Balears |
| Repositorio: | Docusalut |
| Idioma: | inglés |
| OAI Identifier: | oai:docusalut.com:20.500.13003/25896 |
| Acesso em linha: | https://hdl.handle.net/20.500.13003/25896 |
| Access Level: | acceso abierto |
| Palavra-chave: | Cardiomyopathy, Dilated Genes Heart Failure Prognosis Death, Sudden, Cardiac Cardiomiopatía Dilatada Insuficiencia Cardíaca Pronóstico Muerte Súbita Cardíaca Dilated cardiomyopathy Heart failure Sudden cardiac death |
| id |
ES_5ca64f78fce72bbb3c7cae5e0af1567e |
|---|---|
| oai_identifier_str |
oai:docusalut.com:20.500.13003/25896 |
| network_acronym_str |
ES |
| network_name_str |
España |
| repository_id_str |
|
| spelling |
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failureMora-Ayestarán, NereaOchoa, Juan PabloGómez-González, CristinaNavarro-Peñalver, MarinaGallego-Delgado, MaríaLarrañaga-Moreira, José MRobles-Mezcua, AinhoaBasurte-Elorz, María TeresaRodriguez-Palomares, Jose FernandoCliment-Paya, VicenteJiménez-Jaímez, JuanMogollón-Jiménez, Maria VictoriaGarcía-Granja, Pablo ElpidioGarcía-Álvarez, AnaPeña-Peña, María LuisaAlvarez Barredo, MaríaRipoll Vera, TomásPalomino-Doza, JuliánBayes-Genis, AntoniTirón, ColomaFernández, Ana IsabelSabater-Molina, MaríaToranzo, InésCrespo-Leiro, María GDoncel-Abad, VictoriaLacuey-Lecumberri, GemmaLimeres-Freire, JavierGarcía-Álvarez, Maria ICabrera-Borrego, EvaKounka-Ait El Maalem, ZinebVilches, SilviaGonzález-López, EstherVillacorta, EduardoGarcía-Pinilla, José MBarriales-Villa, RobertoGimeno-Blanes, Juan RamónGarcia-Pavia, PabloDomínguez, FernandoCardiomyopathy, DilatedGenesHeart FailurePrognosisDeath, Sudden, CardiacCardiomiopatía DilatadaGenesInsuficiencia CardíacaPronósticoMuerte Súbita CardíacaDilated cardiomyopathyGenesHeart failurePrognosisSudden cardiac deathBACKGROUND AND AIMS: Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM patients 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.Oxford20252025-01-0120252025-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.13003/25896reponame:Docusalutinstname:Conselleria de Salut i Consum del Govern de les Illes BalearsInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:docusalut.com:20.500.13003/258962026-06-22T12:44:07Z |
| dc.title.none.fl_str_mv |
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 Cardiomyopathy, Dilated Genes Heart Failure Prognosis Death, Sudden, Cardiac Cardiomiopatía Dilatada Genes Insuficiencia Cardíaca Pronóstico Muerte Súbita Cardíaca Dilated cardiomyopathy Genes Heart failure Prognosis Sudden cardiac death |
| 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 Alvarez Barredo, María Ripoll Vera, Tomás 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 Kounka-Ait El Maalem, Zineb 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 Alvarez Barredo, María Ripoll Vera, Tomás 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 Kounka-Ait El Maalem, Zineb 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 Alvarez Barredo, María Ripoll Vera, Tomás 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 Kounka-Ait El Maalem, Zineb 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.contributor.none.fl_str_mv |
|
| dc.subject.none.fl_str_mv |
Cardiomyopathy, Dilated Genes Heart Failure Prognosis Death, Sudden, Cardiac Cardiomiopatía Dilatada Genes Insuficiencia Cardíaca Pronóstico Muerte Súbita Cardíaca Dilated cardiomyopathy Genes Heart failure Prognosis Sudden cardiac death |
| topic |
Cardiomyopathy, Dilated Genes Heart Failure Prognosis Death, Sudden, Cardiac Cardiomiopatía Dilatada Genes Insuficiencia Cardíaca Pronóstico Muerte Súbita Cardíaca Dilated cardiomyopathy Genes Heart failure Prognosis Sudden cardiac death |
| description |
BACKGROUND AND AIMS: Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM patients 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. |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2025 2025-01-01 2025 2025-01-01 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/20.500.13003/25896 |
| url |
https://hdl.handle.net/20.500.13003/25896 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/ |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.publisher.none.fl_str_mv |
Oxford |
| publisher.none.fl_str_mv |
Oxford |
| dc.source.none.fl_str_mv |
reponame:Docusalut instname:Conselleria de Salut i Consum del Govern de les Illes Balears |
| instname_str |
Conselleria de Salut i Consum del Govern de les Illes Balears |
| reponame_str |
Docusalut |
| collection |
Docusalut |
| repository.name.fl_str_mv |
|
| repository.mail.fl_str_mv |
|
| _version_ |
1869408930915942401 |
| score |
15,812429 |