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http://hdl.handle.net/2445/214161
Title: | Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives |
Author: | 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 |
Issue Date: | 1-Apr-2024 |
Publisher: | Elsevier BV |
Abstract: | 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/). |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.jacc.2024.02.036 |
It is part of: | Journal of the American College of Cardiology, 2024, vol. 83, issue. 17, p. 1640-1651 |
URI: | http://hdl.handle.net/2445/214161 |
Related resource: | https://doi.org/10.1016/j.jacc.2024.02.036 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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