Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/19930
Title
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.
Author(s)
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 CNIC
Date issued
2024-04-30
Citation
J Am Coll Cardiol. 2024 Apr 30;83(17):1640-1651
Language
Inglés
Document type
journal article
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%) 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.
MESH
Cardiomyopathy, Dilated | Genotype | Penetrance | Adult | Female | Humans | Male | Middle Aged | Young Adult | Connectin | Electrocardiography | Follow-Up Studies | Spain | Retrospective Studies
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