Kuch Aleksandra, Procyk Grzegorz, Borowiec Karolina, Gąsecka Aleksandra, Biernacka Elżbieta Katarzyna
1st Chair and Department of Cardiology, Medical University of Warsaw, Warszawa, Poland.
Doctoral School, Medical University of Warsaw, Warszawa, Poland.
Kardiol Pol. 2025;83(4):436-446. doi: 10.33963/v.phj.104204. Epub 2025 Jan 2.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited heart condition with structural and functional abnormalities of the right ventricle. Microribonucleic acids (miRNAs, miRs) could be a solution in detecting ARVC earlier, more commonly, and in a less invasive way.
We aimed to systematically review the current knowledge about the role of miRNAs in ARVC.
Primary original research written in English assessing miRNAs in ARVC were included. Systematic reviews, meta-analyses, reviews, case reports, letters to editors, commentaries, conference abstracts, guidelines/statements, expert opinions, pre-prints, and book chapters were excluded at the screening stage. Five databases were searched: Embase, Medline Ultimate, PubMed, Scopus, and Web of Science, last on October 4, 2024. Eventually, 3 13 original studies relevant to the discussed area were included. The quality of research was assessed with the Newcastle-Ottawa Scale.
MiR-216a was consistently increased in mice ARVC models and in patients suffering from this disease. Based on the reviewed literature, miR-1, miR-21, and miR-122 are other most important miRNAs in the ARVC. Nevertheless, the research that has already been performed on these miRNAs gives evidence only for their diagnostic potential. Bioinformatic analyses revealed that the following miRNAs are the most important ones involved in ARVC: let-7b, miR-10b-5p, miR-15a-5p, miR-21-5p, miR-29b-3p, miR-122-5p, miR-144-3p, miR-149-5p, miR-182-5p, miR-186-5p, miR-320a, miR-494-3p, and miR-590-3p.
Creating a miRNA panel that could identify ARVC patients with high sensitivity and specificity would be helpful. Currently, there are many gaps in the existing knowledge, which makes miRNA in ARVC an attractive field for future investigation.
致心律失常性右室心肌病（ARVC）是一种罕见的遗传性心脏病，其右心室存在结构和功能异常。微小核糖核酸（miRNA，miR）可能是一种能更早、更普遍且以侵入性较小的方式检测ARVC的方法。
我们旨在系统综述目前关于miRNA在ARVC中作用的知识。
纳入用英文撰写的评估ARVC中miRNA的原发性原创研究。在筛选阶段排除系统评价、荟萃分析、综述、病例报告、给编辑的信、评论、会议摘要、指南/声明、专家意见、预印本和书籍章节。检索了五个数据库：Embase、Medline Ultimate、PubMed、Scopus和Web of Science，检索截止日期为2024年10月4日。最终，纳入了313项与所讨论领域相关的原创研究。研究质量用纽卡斯尔 - 渥太华量表进行评估。
在小鼠ARVC模型和患有该疾病的患者中，miR - 216a持续升高。根据已综述的文献，miR - 1、miR - 21和miR - 122是ARVC中其他最重要的miRNA。然而，目前对这些miRNA的研究仅证明了它们的诊断潜力。生物信息学分析表明，以下miRNA是参与ARVC的最重要的miRNA：let - 7b、miR - 10b - 5p、miR - 15a - 5p、miR - 21 - 5p、miR - 29b - 3p、miR - 122 - 5p、miR - 144 - 3p、miR - 149 - 5p、miR - 182 - 5p、miR - 186 - 5p、miR - 320a、miR - 494 - 3p和miR - 590 - 3p。
创建一个能够高灵敏度和高特异性地识别ARVC患者的miRNA面板将是有帮助的。目前，现有知识存在许多空白，这使得ARVC中的miRNA成为未来研究的一个有吸引力的领域。
