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首页> 外文期刊>Circulation. Genomic and precision medicine. >Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis
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Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis

机译：致病性变异与扩张有关在小儿心肌病预测结果心肌炎

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BACKGROUND: Myocarditis is one of the most common causes leading to heart failure in children and a possible genetic background has been postulated. We sought to characterize the clinical and genetic characteristics in patients with myocarditis <18 years of age to predict outcome. METHODS: A cohort of 42 patients (Genetics in Pediatric Myocarditis) with biopsy-proven myocarditis underwent genetic testing with targeted panel sequencing of cardiomyopathy-associated genes. Genetics in Pediatric Myocarditis patients were divided into subgroups according to the phenotype of dilated cardiomyopathy (DCM) at presentation, resulting in 22 patients without DCM (myocarditis without phenotype of DCM) and 20 patients with DCM (myocarditis with phenotype of DCM). RESULTS: Myocarditis with phenotype of DCM patients (median age 1.4 years) were younger than myocarditis without phenotype of DCM patients (median age 16.1 years; P<0.001) and were corresponding to heart failure-like and coronary syndrome-like phenotypes, respectively. At least one likely pathogenic/pathogenic variant was identified in 9 out of 42 patients (22%), 8 of them were heterozygous, and 7 out of 9 were in myocarditis with phenotype of DCM. Likely pathogenic/ pathogenic variants were found in genes validated for primary DCM (BAG3, DSP, LMNA, MYH7, TNNI3, TNNT2, and TTN). Rare variant enrichment analysis revealed significant accumulation of high-impact disease variants in myocarditis with phenotype of DCM versus healthy individuals (P=0.0003). Event-free survival was lower (P=0.008) in myocarditis with phenotype of DCM patients compared with myocarditis without phenotype of DCM and primary DCM. CONCLUSIONS: We report heterozygous likely pathogenic/pathogenic variants in biopsy-proven pediatric myocarditis. Myocarditis patients with DCM phenotype were characterized by early-onset heart failure, significant enrichment of likely pathogenic/pathogenic variants, and poor outcome. These phenotype-specific and age group-specific findings will be useful for personalized management of these patients. Genetic evaluation in children newly diagnosed with myocarditis and DCM phenotype is warranted.
机译：背景:心肌炎是最常见的一种导致孩子和一个导致心脏衰竭可能的遗传背景已经假定。我们试图描述临床和患者的遗传特征心肌炎< 18岁来预测结果。方法:42例(遗传学的队列与biopsy-proven小儿心肌炎)心肌炎接受基因检测有针对性的面板的测序cardiomyopathy-associated基因。小儿心肌炎患者分成子组根据扩张的表型心肌病(DCM)的演讲中,产生的在22个病人没有DCM(心肌炎DCM的表型)和20 DCM患者DCM(心肌炎与表型)。心肌炎和扩张型心肌病患者的表型(平均年龄1.4岁)以下心肌炎而扩张型心肌病患者的表型(平均年龄16.1岁;对应于心脏failure-like和冠状动脉分别症状表型。一个可能的致病/致病变种确定在9 42个病人(22%),8都是杂合的,7的9心肌炎和扩张型心肌病的表型。致病性/致病变种被发现原发性扩张型心肌病基因验证(BAG3、DSP LMNA,MYH7 TNNI3、TNNT2和TTN)。富集分析揭示了重要的高疾病变异的积累心肌炎的表现型DCM和健康个人(P = 0.0003)。低(P = 0.008)与表型的心肌炎DCM患者与心肌炎表现型的DCM和原发性扩张型心肌病。报告杂合的可能致病/致病在小儿心肌炎biopsy-proven变体。心肌炎DCM患者表型特点是早发性心力衰竭,显著富集的可能致病性/致病变种,和糟糕的结果。这些phenotype-specific和类属特异性的时代研究结果将为个性化是有用的这些病人的管理。新诊断为心肌炎和儿童DCM表型是十分必要的。

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