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. 2025 Aug 29:ehaf605.
doi: 10.1093/eurheartj/ehaf605. Online ahead of print.

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure

Nerea Mora-Ayestarán  1   2   3 , Juan Pablo Ochoa  4 , Cristina Gómez-González  2   3   5   6   7 , Marina Navarro-Peñalver  2   3   8 , María Gallego-Delgado  2   9   10 , José M Larrañaga-Moreira  11 , Ainhoa Robles-Mezcua  2   12   13 , María Teresa Basurte-Elorz  14   15 , Jose Fernando Rodriguez-Palomares  2   3   16   17 , Vicente Climent-Paya  18   19 , Juan Jiménez-Jaímez  20 , Maria Victoria Mogollón-Jiménez  21 , Pablo Elpidio García-Granja  2   22 , Ana García-Álvarez  2   4   23 , María Luisa Peña-Peña  3   24 , María Alvarez Barredo  2   25 , Tomas Ripoll-Vera  26 , Julián Palomino-Doza  2   27 , Antoni Bayes-Genis  2   28 , Coloma Tirón  2   29   30 , Ana Isabel Fernández  2   3   5   6 , María Sabater-Molina  2   3   8 , Inés Toranzo  2   9   10 , María G Crespo-Leiro  2   31 , Victoria Doncel-Abad  12   13 , Gemma Lacuey-Lecumberri  14   15 , Javier Limeres-Freire  2   3   16   17 , Maria I García-Álvarez  18   19 , Eva Cabrera-Borrego  20 , Zineb Kounka-Ait El Maalem  21 , Silvia Vilches  2   3   5   6   7 , Esther González-López  1   2   3   4 , Eduardo Villacorta  2   9   10 , José M García-Pinilla  2   12   13 , Roberto Barriales-Villa  2   11 , Juan Ramón Gimeno-Blanes  2   3   8 , Pablo Garcia-Pavia  1   2   3   4   32 , Fernando Domínguez  1   2   3   4
Affiliations

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure

Nerea Mora-Ayestarán et al. Eur Heart J. .

Abstract

Background and aims: Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM patients with high-risk arrhythmic genotypes also develop more advanced heart failure (AHF) complications. AHF events were studied according to DCM genotype.

Methods: Clinical data from 1203 genotyped DCM patients were collected from 19 Spanish centres. Patients were classified into high-risk arrhythmic genotypes (LMNA, FLNC, desmosomal genes, PLN, TMEM43, RBM20), TTN, other genes, and genotype negative (Gen-). The primary endpoint was a composite of AHF events (ventricular assist device implantation, heart transplant, and AHF-related mortality). The secondary endpoint was a combination of malignant ventricular arrhythmias (MVA).

Results: A DCM-causing variant was identified in a high-risk arrhythmic gene in 185 patients (15.4%), 193 (16.0%) had variants in TTN, 134 (11.1%) in other genes, and 691 (57.4%) were Gen-. After a median follow-up of 5.7 years (interquartile range 2.9-9.1 years), AHF events occurred in 45 (24.3%) patients in the high-risk arrhythmic group, while in 25 (18.7%), 25 (13.0%), and 70 (10.1%) patients with other genotypes, TTN, and Gen-, respectively (hazard ratio 1.85, 95% confidence interval 1.31-2.61 for high-risk arrhythmic genes compared with other groups). MVA occurred in 55 patients (29.7%) (hazard ratio 2.52, 95% confidence interval 1.81-3.51 for high-risk genotypes vs other groups). High-risk arrhythmic genotype was the main independent predictor of AHF in multivariate analysis. High-risk arrhythmic genotype and late gadolinium enhancement were independent predictors of MVA.

Conclusions: Patients with high-risk arrhythmic genotypes also experience more AHF events, supporting a differential therapeutic approach in this group of patients beyond sudden death prevention.

Keywords: Dilated cardiomyopathy; Genes; Heart failure; Prognosis; Sudden cardiac death.

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