RT Journal Article
T1 Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.
A1 Escobar-Lopez, Luis
A1 Ochoa, Juan Pablo
A1 Mirelis, Jesús G
A1 Espinosa, María Ángeles
A1 Navarro, Marina
A1 Gallego-Delgado, María
A1 Barriales-Villa, Roberto
A1 Robles-Mezcua, Ainhoa
A1 Basurte-Elorz, María Teresa
A1 Gutiérrez García-Moreno, Laura
A1 Climent, Vicente
A1 Jiménez-Jaimez, Juan
A1 Mogollón-Jiménez, María Victoria
A1 Lopez, Javier
A1 Peña-Peña, María Luisa
A1 García-Álvarez, Ana
A1 Brion, María
A1 Ripoll-Vera, Tomas
A1 Palomino-Doza, Julián
A1 Tirón, Coloma
A1 Idiazabal, Uxua
A1 Brögger, Maria Noël
A1 García-Hernández, Soledad
A1 Restrepo-Córdoba, María Alejandra
A1 Gonzalez-Lopez, Esther
A1 Méndez, Irene
A1 Sabater, María
A1 Villacorta, Eduardo
A1 Larrañaga-Moreira, José M
A1 Abecia, Ana
A1 Fernández, Ana Isabel
A1 García-Pinilla, José M
A1 Rodríguez-Palomares, José F
A1 Gimeno-Blanes, Juan Ramón
A1 Bayes-Genis, Antoni
A1 Lara-Pezzi, Enrique
A1 Domínguez, Fernando
A1 Garcia-Pavia, Pablo
K1 dilated cardiomyopathy
K1 genetics
K1 heart failure
K1 left ventricular reverse remodeling
K1 mutation
K1 prognosis
K1 sudden cardiac death
K1 ventricular arrhythmia
AB The clinical relevance of genetic variants in nonischemic dilated cardiomyopathy (DCM) is unsettled. The study sought to assess the prognostic impact of disease-causing genetic variants in DCM. Baseline and longitudinal clinical data from 1,005 genotyped DCM probands were retrospectively collected at 20 centers. A total of 372 (37%) patients had pathogenic or likely pathogenic variants (genotype positive) and 633 (63%) were genotype negative. The primary endpoint was a composite of major adverse cardiovascular events. Secondary endpoints were end-stage heart failure (ESHF), malignant ventricular arrhythmia (MVA), and left ventricular reverse remodeling (LVRR). After a median follow-up of 4.04 years (interquartile range: 1.70-7.50 years), the primary endpoint had occurred in 118 (31.7%) patients in the genotype-positive group and in 125 (19.8%) patients in the genotype-negative group (hazard ratio [HR]: 1.51; 95% confidence interval [CI]: 1.17-1.94; P = 0.001). ESHF occurred in 60 (16.1%) genotype-positive patients and in 55 (8.7%) genotype-negative patients (HR: 1.67; 95% CI: 1.16-2.41; P = 0.006). MVA occurred in 73 (19.6%) genotype-positive patients and in 77 (12.2%) genotype-negative patients (HR: 1.50; 95% CI: 1.09-2.07; P = 0.013). LVRR occurred in 39.6% in the genotype-positive group and in 46.2% in the genotype-negative group (P = 0.047). Among individuals with baseline left ventricular ejection fraction ≤35%, genotype-positive patients exhibited more major adverse cardiovascular events, ESHF, and MVA than their genotype-negative peers (all P  In this study, DCM patients with pathogenic or likely pathogenic variants had worse prognosis than genotype-negative individuals. Clinical course differed depending on the underlying affected gene.
YR 2021
FD 2021
LK https://hdl.handle.net/10668/26486
UL https://hdl.handle.net/10668/26486
LA en
DS RISalud
RD Apr 6, 2025