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oai:repisalud.isciii.es:20.500.12105/272812026-02-28T01:18:16Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc Escobar-Lopez, Luis author Ochoa, Juan Pablo author Mirelis, Jesús G author Espinosa, María Ángeles author Navarro, Marina author Gallego-Delgado, María author Barriales-Villa, Roberto author Robles-Mezcua, Ainhoa author Basurte-Elorz, María Teresa author Gutiérrez García-Moreno, Laura author Climent, Vicente author Jiménez-Jaimez, Juan author Mogollón-Jiménez, María Victoria author Lopez, Javier author Peña-Peña, María Luisa author García-Álvarez, Ana author Brion, María author Ripoll-Vera, Tomas author Palomino-Doza, Julián author Tirón, Coloma author Idiazabal, Uxua author Brögger, Maria Noël author García-Hernández, Soledad author Restrepo-Córdoba, María Alejandra author Gonzalez-Lopez, Esther author Méndez, Irene author Sabater, María author Villacorta, Eduardo author Larrañaga-Moreira, José M author Abecia, Ana author Fernández, Ana Isabel author García-Pinilla, José M author Rodríguez-Palomares, José F author Gimeno-Blanes, Juan Ramón author Bayes-Genis, Antoni author Lara-Pezzi, Enrique author Domínguez, Fernando author Garcia-Pavia, Pablo author 2021-10-26 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 < 0.02). LVRR and clinical outcomes varied depending on the underlying affected gene. 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. J Am Coll Cardiol. 2021 Oct 26;78(17):1682-1699. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY 34674813 https://hdl.handle.net/20.500.12105/27281 dilated cardiomyopathy genetics heart failure left ventricular reverse remodeling mutation prognosis sudden cardiac death ventricular arrhythmia Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.