2026-04-17T11:37:06Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/2141612025-12-04T19:21:08Zcom_2072_1057col_2072_478858col_2072_478916col_2072_478917
RECERCAT author Cabrera Romero, Eva author Ochoa, Juan Pablo author Barriales Villa, Roberto author Bermúdez Jiménez, Francisco José author Climent Payá, Vicente author Zorio, Esther author Espinosa, María Angeles author Gallego Delgado, María author Navarro Peñalver, Marina author Arana Achaga, Xabier author Piqueras Flores, Jesús author Espejo Bares, Victoria author Rodríguez Palomares, José F. author Lacuey Lecumberri, Gemma author López, Javier author Tiron, Coloma author Peña Peña, María Luisa author García Pinilla, José Manuel author Lorca, Rebeca author Ripoll Vera, Tomás author Díez López, Carles author Mogollón Jiménez, María Victoria author García Álvarez, Ana author Martínez Dolz, Luis author Brión, María author Larrañaga Moreira, Jose María author Jiménez Jáimez, Juan author García Álvarez, María Isabel author Vilches Saez, Silvia author Villacorta, Eduardo author Sabater Molina, María author Solla Ruiz, Itziar author Royuela, Ana author Domínguez, Fernando author Mirelis, Jesús G. author García Pavía, Pablo 2024-07-02T12:59:24Z2024-07-02T12:59:24Z2024-04-012024-07-02T11:35:09Z 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/). cc by-nc-nd (c) Cabrera Romero, Eva et al, 2024 http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/openAccess Miocardiopaties Genètica humana Myocardiopathies Human genetics Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion