Maria João Tomás, Ana Isabel Pinho, Bernardo Sousa Pinto, Elisabete Martins
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引用次数: 0
Abstract
Myocarditis is a heterogeneous disease with varying clinical presentations, etiologies, and courses. Apart from environmental factors, genetic factors may also play a role in its pathophysiology. Through a systematic review and meta-analysis, we aimed to characterize the relationship between acute myocarditis (AM), underlying genetic background, and prognosis. We searched on MEDLINE/PubMed and Web of Science for studies reporting clinical outcomes of patients presenting with AM and undergoing genetic testing. The prevalence of a positive genetic test result was 27.3%, with a higher proportion of males (61.3%). Patients with a positive genetic test often had a family history of cardiovascular events (53.3%) and late gadolinium enhancement on cardiac magnetic resonance (81.2%), suggesting that these clinical features may represent a population with a higher burden of genetic background and risk for worse outcomes. The risk of recurrence of AM among patients with a positive genetic test was four times greater than among non-carriers (RR=4.02, p<0.001), and the most frequently observed variants among AM carriers were in the TTN, DSP, PKP2, MYH7, BAG3, RMB20, DSG2, TNNT2, and SCN5A genes. Overall, these findings underscore the need to improve the criteria used for genetic testing in the setting of AM episodes and to identify affected individuals who may benefit from increased surveillance and genetic testing.
心肌炎是一种异质性疾病,具有不同的临床表现、病因和病程。除环境因素外,遗传因素也可能在其病理生理中起作用。通过一项系统综述和荟萃分析,我们旨在描述急性心肌炎(AM)、潜在遗传背景和预后之间的关系。我们在MEDLINE/PubMed和Web of Science上搜索了报告AM患者临床结果并进行基因检测的研究。基因检测阳性检出率为27.3%,其中男性比例较高(61.3%)。基因检测阳性的患者通常有心血管事件家族史(53.3%)和心脏磁共振晚期钆增强(81.2%),提示这些临床特征可能代表遗传背景负担较高的人群和预后较差的风险。基因检测阳性患者AM复发的风险是非携带者的4倍(RR=4.02, p