2026-07-08T03:08:29Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/199302024-09-27T08:14:20Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc 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, Jose M author Lorca, Rebeca author Ripoll-Vera, Tomas author Díez-López, Carles author Mogollon, María Victoria author García-Álvarez, Ana author Martínez-Dolz, Luis author Brion, María author Larrañaga-Moreira, Jose María author Jiménez-Jáimez, Juan author García-Álvarez, María Isabel author Vilches, Silvia author Villacorta, Eduardo author Sabater-Molina, María author Solla-Ruiz, Itziar author Royuela, Ana author Domínguez, Fernando author Mirelis, Jesús G author Garcia-Pavia, Pablo author 2024-04-30 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. J Am Coll Cardiol. 2024 Apr 30;83(17):1640-1651 10.1016/j.jacc.2024.02.036 1558-3597 Journal of the American College of Cardiology 38658103 http://hdl.handle.net/20.500.12105/19930 Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.