Association of genotype with treatment response and prognosis in dilated cardiomyopathy

INTRODUCTION AND OBJECTIVES: Left ventricular reverse remodeling (LVRR) is a key therapeutic goal in dilated cardiomyopathy (DCM). However, its genetic predictors and prognostic impact remain uncertain. METHODS: We analyzed genotyped DCM patients with serial echocardiograms from the Spanish DCM stud...

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Autores: Mora-Ayestarán, Nerea, Ochoa, Juan Pablo, Espinosa-Castro, María Ángeles, Navarro-Peñalver, Marina, Villacorta, Eduardo, Crespo-Leiro, María G, Climent-Payá, Vicente, Lacuey-Lecumberri, Gemma, Peña-Peña, María Luisa, Bermúdez-Jiménez, Francisco J, García-Pinilla, José M, Mogollón-Jiménez, María Victoria, Limeres-Freire, Javier, García-Álvarez, Ana, Bayés-Genís, Antoni, Palomino-Doza, Julián, Tirón, Coloma, Ripoll Vera, Tomás, López, Javier, Brion, María, Vilches-Soria, Silvia, Sabater-Molina, María, García-Berrocal, Belén, Larrañaga-Moreira, José M, García-Álvarez, María I, Basurte-Elorz, María Teresa, Llamas-Gómez, Helena, Méndez-Fernández, Irene, Garrido-Bravo, Iris Paula, González-López, Esther, Gallego-Delgado, María, Barriales-Villa, Roberto, Lara-Pezzi, Enrique, García-Pavía, Pablo, Domínguez, Fernando
Tipo de recurso: artículo
Fecha de publicación:2025
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/26212
Acceso en línea:https://hdl.handle.net/20.500.13003/26212
Access Level:acceso abierto
Palabra clave:Cardiomyopathy, Dilated
Genetics
Ventricular Function, Left
Prognosis
Cardiomiopatía Dilatada
Genética
Función Ventricular Izquierda
Pronóstico
Dilated cardiomyopathy
Fracción de eyección del ventrículo izquierdo
Left ventricular ejection fraction
Miocardiopatía dilatada
Remodelado
Remodeling
Descripción
Sumario:INTRODUCTION AND OBJECTIVES: Left ventricular reverse remodeling (LVRR) is a key therapeutic goal in dilated cardiomyopathy (DCM). However, its genetic predictors and prognostic impact remain uncertain. METHODS: We analyzed genotyped DCM patients with serial echocardiograms from the Spanish DCM study. The main objective was to assess the influence of genotype on LVRR, defined by improvement in ejection fraction within 12± 6 months. Secondary endpoints included major adverse cardiovascular events, end-stage heart failure (HF), and malignant ventricular arrhythmias. RESULTS: A total of 711 patients were included (67% male, mean age 50.8 years, baseline ejection fraction 31%, 44% genotype positive). LVRR occurred in 39% of genotype-positive vs 47% of genotype-negative patients (P=.036). Independent predictors of LVRR were TTN variants, lower baseline ejection fraction, and HF admission at diagnosis. In contrast, desmosomal, nuclear envelope and motor sarcomeric gene variants were associated with a lower likelihood of LVRR. During a median follow-up of 4.5 years, 26% of patients with initial LVRR showed subsequent deterioration, which was more frequent among genotype-positive individuals (32% vs 22%, P=.054). Compared with patients with sustained LVRR, those with deterioration had worse outcomes, including higher rates of major cardiovascular events (25% vs 7%), end-stage HF (18% vs 1%), and ventricular arrhythmia (12% vs 4%) (all P <.05). CONCLUSIONS: Genotype is a major determinant of both initial and long-term LVRR. Loss of ejection fraction improvement is common and strongly associated with adverse outcomes.

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