Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Acute Myocarditis: A Systematic Review and Meta-Analysis,JACC: Heart Failure

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Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Acute Myocarditis: A Systematic Review and Meta-Analysis
JACC: Heart Failure ( IF 10.3 ) Pub Date : 2024-04-03 , DOI: 10.1016/j.jchf.2024.02.012
Emanuele Monda ₁ , Athanasios Bakalakos ₂ , Douglas Cannie ₂ , Constantinos O'Mahony ₂ , Petros Syrris ₃ , Juan Pablo Kaski ₄ , Giuseppe Limongelli ₁ , Perry Mark Elliott ₂

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Acute myocarditis is an inflammatory condition that may precede the development of dilated or arrhythmogenic cardiomyopathy. The aim of this study was to investigate the reported prevalence of pathogenic or likely pathogenic (P/LP) variants in cardiomyopathy-associated genes in patients with acute myocarditis. For this systematic review and meta-analysis, the PubMed and Embase databases were searched on March 4, 2023. Observational studies evaluating the prevalence of P/LP variants in cardiomyopathy-associated genes in patients with acute myocarditis were included. Studies were stratified into adult and pediatric age groups and for the following scenarios: 1) complicated myocarditis (ie, presenting with acute heart failure, reduced left ventricular ejection fraction, or life-threatening ventricular arrhythmias); and 2) uncomplicated myocarditis. The study was registered with the International Prospective Register of Systematic Reviews () and followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Of 732 studies identified, 8 met the inclusion criteria, providing data for 586 patients with acute myocarditis. A total of 89 P/LP variants in cardiomyopathy-associated genes were reported in 85 patients. For uncomplicated myocarditis, the pooled prevalence was 4.2% (95% CI: 1.8%-7.4%; = 1.4%), whereas for complicated myocarditis, the pooled prevalence was 21.9% (95% CI: 14.3%-30.5%; = 38.8%) and 44.5% (95% CI: 22.7%-67.4%; = 52.8%) in adults and children, respectively. P/LP variants in desmosomal genes were predominant in uncomplicated myocarditis (64%), whereas sarcomeric gene variants were more prevalent in complicated myocarditis (58% in adults and 71% in children). Genetic variants are present in a large proportion of patients with acute myocarditis. The prevalence of genetic variants and the genes involved vary according to age and clinical presentation.

中文翻译：

急性心肌炎中心肌病相关基因致病变异的患病率：系统评价和荟萃分析

急性心肌炎是一种可能先于扩张型或致心律失常性心肌病发展的炎症性疾病。本研究的目的是调查急性心肌炎患者心肌病相关基因中致病性或可能致病性 (P/LP) 变异的患病率。对于这项系统评价和荟萃分析，检索了 2023 年 3 月 4 日的 PubMed 和 Embase 数据库。其中包括评估急性心肌炎患者心肌病相关基因 P/LP 变异流行率的观察性研究。研究分为成人和儿童年龄组，针对以下情况：1）复杂性心肌炎（即表现为急性心力衰竭、左心室射血分数降低或危及生命的室性心律失常）； 2）无并发症的心肌炎。该研究已在国际系统评价前瞻性登记册 (International Prospective Register of Systematic Reviews) 注册，并遵循系统评价和荟萃分析指南的首选报告项目。在确定的 732 项研究中，有 8 项符合纳入标准，为 586 名急性心肌炎患者提供了数据。 85 名患者的心肌病相关基因中总共报告了 89 个 P/LP 变异。对于无并发症的心肌炎，汇总患病率为 4.2%（95% CI：1.8%-7.4%；= 1.4%），而对于复杂性心肌炎，汇总患病率为 21.9%（95% CI：14.3%-30.5%；= 38.8） %) 和 44.5% (95% CI: 22.7%-67.4%; = 52.8%) 分别在成人和儿童中。桥粒基因中的 P/LP 变异在无并发症的心肌炎中占主导地位（64%），而肌节基因变异在复杂的心肌炎中更为常见（成人中 58%，儿童中 71%）。大部分急性心肌炎患者存在遗传变异。遗传变异的流行率和所涉及的基因根据年龄和临床表现而有所不同。

更新日期：2024-04-03

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