• Mireia Alcalde, Rocío Toro, Fernando Bonet, José Córdoba-Caballero, Estefanía Martínez-Barrios, Juan Antonio Ranea, Marta Vallverdú-Prats, Ramon Brugada, Viviana Meraviglia, Milena Bellin, Georgia Sarquella-Brugada, and Oscar Campuzano.
• Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares, Madrid, Spain.
• Transl Res. 2023 Sep 1; 259: 728272-82.

AbstractArrhythmogenic cardiomyopathy is a rare inherited entity, characterized by a progressive fibro-fatty replacement of the myocardium. It leads to malignant arrhythmias and a high risk of sudden cardiac death. Incomplete penetrance and variable expressivity are hallmarks of this arrhythmogenic cardiac disease, where the first manifestation may be syncope and sudden cardiac death, often triggered by physical exercise. Early identification of individuals at risk is crucial to adopt protective and ideally personalized measures to prevent lethal episodes. The genetic analysis identifies deleterious rare variants in nearly 70% of cases, mostly in genes encoding proteins of the desmosome. However, other factors may modulate the phenotype onset and outcome of disease, such as microRNAs. These small noncoding RNAs play a key role in gene expression regulation and the network of cellular processes. In recent years, data focused on the role of microRNAs as potential biomarkers in arrhythmogenic cardiomyopathy have progressively increased. A better understanding of the functions and interactions of microRNAs will likely have clinical implications. Herein, we propose an exhaustive review of the literature regarding these noncoding RNAs, their versatile mechanisms of gene regulation and present novel targets in arrhythmogenic cardiomyopathy.Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.

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