Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure
Mora-Ayestarán, Nerea (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
Ochoa, Juan Pablo (Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC))
Gómez-González, Cristina (Hospital General Universitario Gregorio Marañón)
Navarro-Peñalver, Marina (Hospital Universitario Virgen de la Arrixaca (Múrcia))
Gallego-Delgado, María (Hospital Universitario de Salamanca)
Larrañaga-Moreira, José M. (Complejo Hospitalario Universitario de A Coruña)
Robles-Mezcua, Ainhoa (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Basurte-Elorz, María Teresa (Complejo Hospitalario de Navarra)
Rodriguez-Palomares, Jose Fernando (Universitat Autònoma de Barcelona. Departament de Medicina)
Climent-Paya, Vicente (Hospital General Universitario Dr. Balmis de Alicante)
Jiménez-Jaímez, Juan (Hospital Universitario Virgen de las Nieves (Granada))
Mogollón-Jiménez, Maria Victoria (Complejo Hospitalario Universitario de Cáceres)
García-Granja, Pablo Elpidio (Hospital Clínico Universitario de Valladolid)
García-Álvarez, Ana (Universitat de Barcelona)
Peña-Peña, María Luisa (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Alvarez Barredo, María (Complejo Hospitalario Universitario de Santiago de Compostela)
Ripoll-Vera, Tomás (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears))
Palomino-Doza, Julián (Hospital Universitario 12 de Octubre (Madrid))
Bayés-Genís, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Tirón, Coloma (Hospital Universitari de Girona Doctor Josep Trueta)
Fernández, Ana Isabel (Hospital General Universitario Gregorio Marañón)
Sabater-Molina, María (Hospital Universitario Virgen de la Arrixaca (Múrcia))
Toranzo, Inés (Hospital Universitario de Salamanca)
Crespo-Leiro, Maria Generosa (Complejo Hospitalario Universitario de A Coruña)
Doncel-Abad, Victoria (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Lacuey-Lecumberri, Gemma (Hospital Universitario de Navarra)
Limeres-Freire, Javier (Hospital Universitari Vall d'Hebron)
García-Álvarez, Maria I (Hospital General Universitario Dr. Balmis (Alacant, País Valencià))
Cabrera-Borrego, Eva (Hospital Universitario Virgen de las Nieves (Granada))
Kounka-Ait El Maalem, Zineb (Complejo Hospitalario Universitario de Cáceres)
Vilches, Silvia (Universidad Complutense de Madrid)
González-López, Esther (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
Villacorta, Eduardo (Hospital Universitario de Salamanca)
García-Pinilla, José M (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Barriales-Villa, Roberto (Complejo Hospitalario Universitario de A Coruña)
Gimeno-Blanes, Juan Ramón (Hospital Universitario Virgen de la Arrixaca (Múrcia))
García-Pavía, Pablo (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
Domınguez, Fernando (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))

Data:	2025
Resum:	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. 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). 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. 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.
Ajuts:	Instituto de Salud Carlos III PI20/0320 European Commission 101115416
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Dilated cardiomyopathy ; Genes ; Heart failure ; Sudden cardiac death ; Prognosis
Publicat a:	European heart journal, Vol. 46, Num. 48 (December 2025) , p. 5222-5233, ISSN 1522-9645

DOI: 10.1093/eurheartj/ehaf605
PMID: 40878535

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