Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown. This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associat...

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Detalles Bibliográficos
Autores: Cabrera-Romero, Eva, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Bermúdez-Jiménez, Francisco José, Climent-Payá, Vicente, Zorio, Esther, Espinosa, Maria Angeles, Gallego-Delgado, María, Navarro-Peñalver, Marina, Arana-Achaga, Xabier, Piqueras-Flores, Jesús, Espejo-Bares, Victoria, Rodríguez-Palomares, José F, Lacuey-Lecumberri, Gemma, López, Javier, Tiron, Coloma, Peña-Peña, María Luisa, García-Pinilla, Jose M, Lorca, Rebeca, Ripoll, Tomás, Díez-López, Carles, Mogollón-Jiménez, María Victoria, García-Álvarez, Ana, Martínez-Dolz, Luis, Brion, María, Larrañaga-Moreira, Jose María, Jiménez-Jáimez, Juan, García-Álvarez, María Isabel, Vilches, Silvia, Villacorta, Eduardo, Sabater-Molina, Maria, Solla-Ruiz, Itziar, Royuela, Ana, Dominguez, Fernando, Mirelis, Jesús G, Garcia-Pavia, Pablo
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/20335
Acceso en línea:https://hdl.handle.net/20.500.13003/20335
Access Level:acceso abierto
Palabra clave:Penetrance
Genotype
Young Adult
Spain
Adult
Cardiomyopathy, Dilated
Humans
Connectin
Follow-Up Studies
Electrocardiography
Middle Aged
Male
Female
Retrospective Studies
Conectina
Femenino
Masculino
Estudios de Seguimiento
Electrocardiografía
Cardiomiopatía Dilatada
Humanos
Persona de Mediana Edad
Adulto Joven
Genotipo
Estudios Retrospectivos
Adulto
España
Penetrancia
Descripción
Sumario:Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown. This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. The authors evaluated 779 G+ patients (age 35.8 ± 17.3 years; 459 [59%] females; 367 [47%] with variants in TTN) without DCM followed at 25 Spanish centers. After a median follow-up of 37.1 months (Q1-Q3: 16.3-63.8 months), 85 individuals (10.9%) developed DCM (incidence rate of 2.9 per 100 person-years; 95% CI: 2.3-3.5 per 100 person-years). DCM penetrance and age at DCM onset was different according to underlying gene group (log-rank P = 0.015 and P <0.01, respectively). In a multivariable model excluding CMR parameters, independent predictors of DCM development were: older age (HR per 1-year increase: 1.02; 95% CI: 1.0-1.04), an abnormal electrocardiogram (HR: 2.13; 95% CI: 1.38-3.29); presence of variants in motor sarcomeric genes (HR: 1.92; 95% CI: 1.05-3.50); lower left ventricular ejection fraction (HR per 1% increase: 0.86; 95% CI: 0.82-0.90) and larger left ventricular end-diastolic diameter (HR per 1-mm increase: 1.10; 95% CI: 1.06-1.13). Multivariable analysis in individuals with cardiac magnetic resonance and late gadolinium enhancement assessment (n = 360, 45%) identified late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45). Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years. Older age, an abnormal electrocardiogram, lower left ventricular ejection fraction, increased left ventricular end-diastolic diameter, motor sarcomeric genetic variants, and late gadolinium enhancement are associated with a higher risk of developing DCM.

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