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JAHA：儿童心肌病的遗传原因

2021-04-28 MedSci原创 MedSci原创

心肌病儿童遗传原因
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基因检测的临床实践差异很大。一级亲属的全面心脏筛查和预测性基因检测可以很大改善。总体而言，该研究的结果支持在家族性和特发性心肌病病例中使用常规基因检测。

小儿心肌病是一种遗传异质性疾病，伴有很高的发病率和死亡率。当前的指南建议对肥厚性、扩张性或限制性心肌病患儿进行基因检测，但临床实践存在差异，缺乏儿童临床检测方法和诊断的可靠数据。

近日，心血管疾病领域权威杂志JAHA上发表了一篇研究文章，这项研究旨在明确儿童心肌病的遗传原因，并调查临床基因检测方法。

家族性或特发性心肌病儿童来自北美的14个机构，先证者进行了外显子组测序。研究人员使用临床解释指南共识，评估了37种已知的心肌病基因中的稀有序列变异体的致病性。

在152名登记的先证者中，41％患者有心肌病家族史。在入组前接受过心肌病临床基因检测的81位患者（53％）中，39名（48％）患者呈阳性。不同地区之间的基因测试率从0％到97％不等。家族史阳性和肥厚型心肌病亚型与基因检测的可能性增加相关（分别为P=0.005和P=0.03）。在未进行临床检测的63名儿童中，21％的患儿发现了分子原因，在家族性和特发性病例以及所有表型亚型中均确定出了阳性结果。

由此可见，基因检测的临床实践差异很大。一级亲属的全面心脏筛查和预测性基因检测可以很大改善。总体而言，该研究的结果支持在家族性和特发性心肌病病例中使用常规基因检测。

原始出处：

Stephanie M. Ware.et al.Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.J AM HEART ASSOC.2021.https://www.ahajournals.org/doi/full/10.1161/JAHA.120.017731

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    2022-03-10 医者仁者

    #心肌病#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1201360, encodeId=0652120136024, content=<a href='/topic/show?id=c65251303fc' target=_blank style='color:#2F92EE;'>#心肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51303, encryptionId=c65251303fc, topicName=心肌病)], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220519/c2ab253484ee4527a2d4e9589a4821ac/45de9bf494a54becb2ea4369c9d11e85.jpg, createdBy=7a3710, createdName=医者仁者, createdTime=Thu Mar 10 14:52:19 CST 2022, time=2022-03-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1268515, encodeId=2f801268515bc, content=<a href='/topic/show?id=922f21183d' target=_blank style='color:#2F92EE;'>#AHA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2118, encryptionId=922f21183d, topicName=AHA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf3d82, createdName=zhaohui6731, createdTime=Fri Apr 30 13:22:17 CST 2021, time=2021-04-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622481, encodeId=6cd7162248144, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=80948, encryptionId=b9578094833, topicName=肌病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Fri Apr 30 13:22:17 CST 2021, time=2021-04-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=961388, encodeId=dfb1961388c1, content=学习了，涨知识了！, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/ajNVdqHZLLDM9swhbgTo7nzqRKzMmzckmEoeTyLQVDCgjqsicjyhxPs0vPoYU6GsSYbCjSkNHicJkz3NL0a0EbUMVdNjkctXI6FocpGKaVr9E/0, createdBy=29392048316, createdName=ms2000001051330459, createdTime=Wed Apr 28 22:49:32 CST 2021, time=2021-04-28, status=1, ipAttribution=)]
    2021-04-30 zhaohui6731

    #AHA#

    0

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    2021-04-30 爆笑小医

    #肌病#

    0

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    2021-04-28 ms2000001051330459

    学习了，涨知识了！

    0