Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.
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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 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
Аннотация
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.