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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/214161
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
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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%) identi fied 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. (J Am Coll Cardiol 2024;83:1640 -1651) (c) 2024 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation. This is an open access article under the CC BY -NC -ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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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, José manuel, LORCA, Rebeca, RIPOLL VERA, Tomás, DÍEZ LÓPEZ, Carles, MOGOLLÓN JIMÉNEZ, María victoria, GARCÍA ÁLVAREZ, Ana, MARTÍNEZ DOLZ, Luis, BRIÓN, María, LARRAÑAGA MOREIRA, Jose maría, JIMÉNEZ JÁIMEZ, Juan, GARCÍA ÁLVAREZ, María isabel, VILCHES SAEZ, Silvia, VILLACORTA, Eduardo, SABATER MOLINA, María, SOLLA RUIZ, Itziar, ROYUELA, Ana, DOMÍNGUEZ, Fernando, MIRELIS, Jesús g., GARCÍA PAVÍA, Pablo. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives. _Journal of the American College of Cardiology_. 2024. Vol. 83, núm. 17, pàgs. 1640-1651. [consulta: 14 de gener de 2026]. ISSN: 1558-3597. [Disponible a: https://hdl.handle.net/2445/214161]