Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli," Naples, Italy; Institute of Cardiovascular Science, University College London, London, United Kingdom.
Institute of Cardiovascular Science, University College London, London, United Kingdom; Barts Heart Centre, St. Bartholomew's Hospital, London, United Kingdom.
JACC Heart Fail. 2024 Jun;12(6):1101-1111. doi: 10.1016/j.jchf.2024.02.012. Epub 2024 Apr 3.
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 (CRD42023408668) 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%; I = 1.4%), whereas for complicated myocarditis, the pooled prevalence was 21.9% (95% CI: 14.3%-30.5%; I = 38.8%) and 44.5% (95% CI: 22.7%-67.4%; I = 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.
急性心肌炎是一种炎症性疾病，可能先于扩张型或心律失常性心肌病的发生。
本研究旨在调查急性心肌炎患者的心肌病相关基因中致病性或可能致病性（P/LP）变异的报告发生率。
本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。纳入了评估急性心肌炎患者的心肌病相关基因中 P/LP 变异发生率的观察性研究。研究分为成人和儿科年龄组，并分为以下两种情况：1）复杂心肌炎（即出现急性心力衰竭、左心室射血分数降低或危及生命的室性心律失常）；2）不复杂心肌炎。该研究已在国际前瞻性系统评价注册库（CRD42023408668）中注册，并遵循系统评价和荟萃分析的首选报告项目指南。
在 732 项研究中，有 8 项符合纳入标准，为 586 例急性心肌炎患者提供了数据。在 85 例患者中报告了 89 个心肌病相关基因的 P/LP 变异。不复杂心肌炎的总体患病率为 4.2%（95%CI：1.8%-7.4%；I=1.4%），而复杂心肌炎的总体患病率为 21.9%（95%CI：14.3%-30.5%；I=38.8%）和 44.5%（95%CI：22.7%-67.4%；I=52.8%），分别为成人和儿童。不复杂心肌炎中以桥粒蛋白基因的 P/LP 变异为主（64%），而复杂心肌炎中则以肌节基因变异为主（成人 58%，儿童 71%）。
急性心肌炎患者中存在大量的遗传变异。遗传变异的发生率和涉及的基因因年龄和临床表现而异。
