Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.

BACKGROUND 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. OBJECTIVES This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to ide...

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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, María 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-Vera, Tomas, Díez-López, Carles, Mogollon, 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, María, Solla-Ruiz, Itziar, Royuela, Ana, Domínguez, Fernando, Mirelis, Jesús G, Garcia-Pavia, Pablo
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/19930
Acceso en línea:http://hdl.handle.net/20.500.12105/19930
Access Level:acceso abierto
Palabra clave:Cardiomyopathy, Dilated
Genotype
Penetrance
Adult
Female
Humans
Male
Middle Aged
Young Adult
Connectin
Electrocardiography
Follow-Up Studies
Spain
Retrospective Studies
Descripción
Sumario:BACKGROUND 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. OBJECTIVES This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. METHODS 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. RESULTS 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). CONCLUSIONS 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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