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JAHA:小儿扩张型心肌病基因型与心脏结局

2021-12-23 MedSci原创 MedSci原创

肌节变异在儿科DCM患者中很常见。该研究证明了诊断年龄与心脏结局之间存在基因型特异性关联。特别是,MYH7与伴有左心室致密化不全特征的DCM患者具有结构域特异性关联。

小儿扩张型心肌病(DCM)是一个众所周知的临床疾病;然而,DCM的表型-基因型相关性尚未完全明确。

近日,心血管疾病领域权威杂志JAHA上发表了一篇研究文章,在这项研究中,研究人员旨在明确儿科DCM先证者中提供与危及生命的心脏结局的基因型关联。

研究人员在一家大型儿科转诊中心(2007-2016年)对DCM儿童进行了回顾性研究,排除了综合征、化疗引起的和先天性心脏病所致的DCM。遗传变异由专家小组和独立的临床实验室来进行判定。

在109名DCM儿童病例的队列中,诊断时的平均年龄为4.2岁(SD为5.9),47%的DCM儿童发生危及生命的心脏结局(42%为心脏移植,5%为死亡病例)。40人/109名(37%)受试者存在一种或多种致病性/可能致病性突变,36人/44名(82%)受试者的致病性/可能致病性突变发生在肌节基因。家族性心肌病患者的致病性/可能致病性突变的频率没有差异(15人/33名受试者有家族史 vs. 25人/76名受试者没有家族史,P=0.21)。在青少年期诊断DCM的儿童中TTN截断突变的发生比例较高(26%的青少年 vs. 6%的年幼儿童,P=0.01),但具有这些TTN变异的婴儿和青少年都发生了危及生命的心脏结局。伴有左心室致密化不全特征的6名DCM患者的突变全部发生在1和600氨基酸之间的MYH7基因。

由此可见,肌节变异在儿科DCM患者中很常见。该研究证明了诊断年龄与心脏结局之间存在基因型特异性关联。特别是,MYH7与伴有左心室致密化不全特征的DCM患者具有结构域特异性关联。家族史并不能预测致病性/可能的致病性变异,这强调了应在所有特发性DCM儿童中考虑进行基因检测。

原始出处:

Rabia S. Khan,et al.Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.JAHA.2021.https://www.ahajournals.org/doi/full/10.1161/JAHA.121.022854

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    2022-08-18 lsj637
  4. [GetPortalCommentsPageByObjectIdResponse(id=1890890, encodeId=1c24189089021, content=<a href='/topic/show?id=742341e1782' target=_blank style='color:#2F92EE;'>#基因型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41717, encryptionId=742341e1782, topicName=基因型)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f984116, createdName=kzlchina, createdTime=Mon Feb 21 22:54:05 CST 2022, time=2022-02-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2043000, encodeId=0633204300071, content=<a href='/topic/show?id=45615130497' target=_blank style='color:#2F92EE;'>#心肌病基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51304, encryptionId=45615130497, topicName=心肌病基因)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=570f404, createdName=xlxchina, createdTime=Sun Aug 21 07:54:05 CST 2022, time=2022-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1684885, encodeId=d5be16848856a, content=<a href='/topic/show?id=794754e74f4' target=_blank style='color:#2F92EE;'>#扩张#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=54774, encryptionId=794754e74f4, topicName=扩张)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=699d28086811, createdName=lsj637, createdTime=Thu Aug 18 09:54:05 CST 2022, time=2022-08-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1083855, encodeId=6d0b1083855ac, content=肌节变异在儿科DCM患者中很常见。该研究证明了诊断年龄与心脏结局之间存在基因型特异性关联。特别是,MYH7与伴有左心室致密化不全特征的DCM患者具有结构域特异性关联。家族史并不能预测致病性/可能的致病性变异,这强调了应在所有特发性DCM儿童中考虑进行基因检测。, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=1, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211224/30d83b9eb58247d9a772088edfb77f9e/ca51b8367de94851a2275db463695568.jpg, createdBy=3d162090300, createdName=齐广西, createdTime=Fri Dec 24 11:17:28 CST 2021, time=2021-12-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1201362, encodeId=403212013623f, content=<a href='/topic/show?id=c65251303fc' target=_blank style='color:#2F92EE;'>#心肌病#</a><a href='/topic/show?id=c0c454e81b4' target=_blank style='color:#2F92EE;'>#扩张性心肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=117, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51303, encryptionId=c65251303fc, topicName=心肌病), TopicDto(id=54781, encryptionId=c0c454e81b4, topicName=扩张性心肌病)], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220519/c2ab253484ee4527a2d4e9589a4821ac/45de9bf494a54becb2ea4369c9d11e85.jpg, createdBy=7a3710, createdName=医者仁者, createdTime=Thu Mar 10 14:52:40 CST 2022, time=2022-03-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1268712, encodeId=361b1268e12ed, content=<a href='/topic/show?id=922f21183d' target=_blank style='color:#2F92EE;'>#AHA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2118, encryptionId=922f21183d, topicName=AHA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf3d82, createdName=zhaohui6731, createdTime=Sat Dec 25 09:54:05 CST 2021, time=2021-12-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622515, encodeId=427c1622515ea, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, 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=Sat Dec 25 09:54:05 CST 2021, time=2021-12-25, status=1, ipAttribution=)]
    2021-12-24 齐广西

    肌节变异在儿科DCM患者中很常见。该研究证明了诊断年龄与心脏结局之间存在基因型特异性关联。特别是,MYH7与伴有左心室致密化不全特征的DCM患者具有结构域特异性关联。家族史并不能预测致病性/可能的致病性变异,这强调了应在所有特发性DCM儿童中考虑进行基因检测。

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  5. [GetPortalCommentsPageByObjectIdResponse(id=1890890, encodeId=1c24189089021, content=<a href='/topic/show?id=742341e1782' target=_blank style='color:#2F92EE;'>#基因型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41717, encryptionId=742341e1782, topicName=基因型)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f984116, createdName=kzlchina, createdTime=Mon Feb 21 22:54:05 CST 2022, time=2022-02-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2043000, encodeId=0633204300071, content=<a href='/topic/show?id=45615130497' target=_blank style='color:#2F92EE;'>#心肌病基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51304, encryptionId=45615130497, topicName=心肌病基因)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=570f404, createdName=xlxchina, createdTime=Sun Aug 21 07:54:05 CST 2022, time=2022-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1684885, encodeId=d5be16848856a, content=<a href='/topic/show?id=794754e74f4' target=_blank style='color:#2F92EE;'>#扩张#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=54774, encryptionId=794754e74f4, topicName=扩张)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=699d28086811, createdName=lsj637, createdTime=Thu Aug 18 09:54:05 CST 2022, time=2022-08-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1083855, encodeId=6d0b1083855ac, content=肌节变异在儿科DCM患者中很常见。该研究证明了诊断年龄与心脏结局之间存在基因型特异性关联。特别是,MYH7与伴有左心室致密化不全特征的DCM患者具有结构域特异性关联。家族史并不能预测致病性/可能的致病性变异,这强调了应在所有特发性DCM儿童中考虑进行基因检测。, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=1, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211224/30d83b9eb58247d9a772088edfb77f9e/ca51b8367de94851a2275db463695568.jpg, createdBy=3d162090300, createdName=齐广西, createdTime=Fri Dec 24 11:17:28 CST 2021, time=2021-12-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1201362, encodeId=403212013623f, content=<a href='/topic/show?id=c65251303fc' target=_blank style='color:#2F92EE;'>#心肌病#</a><a href='/topic/show?id=c0c454e81b4' target=_blank style='color:#2F92EE;'>#扩张性心肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=117, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=51303, encryptionId=c65251303fc, topicName=心肌病), TopicDto(id=54781, encryptionId=c0c454e81b4, topicName=扩张性心肌病)], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220519/c2ab253484ee4527a2d4e9589a4821ac/45de9bf494a54becb2ea4369c9d11e85.jpg, createdBy=7a3710, createdName=医者仁者, createdTime=Thu Mar 10 14:52:40 CST 2022, time=2022-03-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1268712, encodeId=361b1268e12ed, content=<a href='/topic/show?id=922f21183d' target=_blank style='color:#2F92EE;'>#AHA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2118, encryptionId=922f21183d, topicName=AHA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf3d82, createdName=zhaohui6731, createdTime=Sat Dec 25 09:54:05 CST 2021, time=2021-12-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622515, encodeId=427c1622515ea, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, 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=Sat Dec 25 09:54:05 CST 2021, time=2021-12-25, status=1, ipAttribution=)]
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    2021-12-25 zhaohui6731
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