Eur Heart J：解开“僵硬心”之谜：一种新基因突变导致的心肌病

2015-01-22 王白石湘雅二医院官网

日前，国际著名心血管杂志《欧洲心脏杂志》（European heart journal）在线刊发了以中南大学湘雅二医院心血管内科彭道泉教授为通讯作者、于碧莲主治医生为第一作者的病例文章。该文章介绍的病例是一名25岁年轻女性，因为气促浮肿进行性加重2年多，心脏B超显示其心脏极度"僵硬"，曾辗转省内多家医院未能确诊。在对患者进行详细的病情评估并行心内膜活检，排除了常见的浸润性心肌病后，大胆

日前，国际著名心血管杂志《欧洲心脏杂志》（European heart journal）在线刊发了以中南大学湘雅二医院心血管内科彭道泉教授为通讯作者、于碧莲主治医生为第一作者的病例文章。

该文章介绍的病例是一名25岁年轻女性，因为气促浮肿进行性加重2年多，心脏B超显示其心脏极度"僵硬"，曾辗转省内多家医院未能确诊。在对患者进行详细的病情评估并行心内膜活检，排除了常见的浸润性心肌病后，大胆推测患者为罕见的"限制表型的肥厚型心肌病"，通过多种基因筛查最终锁定为β肌球蛋白重链（β-myosin heavy chain，MYH7）突变，且该患者的突变为新突变，属国际首次报道。随后，在对其家族进行全面筛查后发现，该家系因近亲结婚所致基因突变，部分家庭成员携带有该突变，但表现为不同的心肌病表型。

通过检索发现这是国际上首次报道一种新的基因突变导致以限制为主合并不同程度肥厚表型的心肌病家系。该患者已成功接受心脏移植手术，术后病理检查发现该患者心脏严重纤维化。这一基因突变所致的心肌纤维化发现可能为我们探讨心衰患者心肌纤维化的机制提供重要的研究思路。

心肌病一直是心血管领域诊治的难点，原因在于其病因、表型复杂，确诊方法技术难度高而不能普及。心内膜活检是心肌病诊断的关键方法，但因材料匮乏、费用高、风险大，而不能在患者中普及。近年，心血管内科除开展心内膜活检外，对不能接受心内膜活检的患者开展皮肤活检，并结合偏振光、电镜及基因筛查技术，诊断了一些国内顶级医院未能确证的罕见遗传性心肌病，如糖原累积病、转甲状腺蛋白基因突变所致家族性淀粉样变多发性神经病等，诊断水平跻身国内领先地位，省内外众多患者慕名前来就诊。

原始出处：

Yu BL1, Xiang R2, Hu D1, Peng DQ3.A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy.Eur Heart J. 2015 Jan 14;36(3):178. doi: 10.1093/eurheartj/ehu435. Epub 2014 Nov 24.

版权声明：
本网站所有内容来源注明为“梅斯医学”或“MedSci原创”的文字、图片和音视频资料，版权均属于梅斯医学所有。非经授权，任何媒体、网站或个人不得转载，授权转载时须注明来源为“梅斯医学”。其它来源的文章系转载文章，或“梅斯号”自媒体发布的文章，仅系出于传递更多信息之目的，本站仅负责审核内容合规，其内容不代表本站立场，本站不负责内容的准确性和版权。如果存在侵权、或不希望被转载的媒体或个人可与我们联系，我们将立即进行删除处理。
在此留言

评论区 (4)

#插入话题

插入图片

[GetPortalCommentsPageByObjectIdResponse(id=1355958, encodeId=3a51135595897, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1562285, encodeId=d3b61562285c7, content=<a href='/topic/show?id=f69d864413' target=_blank style='color:#2F92EE;'>#HEART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8644, encryptionId=f69d864413, topicName=HEART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1616355, encodeId=be3b16163555a, content=<a href='/topic/show?id=0d9658313ea' target=_blank style='color:#2F92EE;'>#新基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=58313, encryptionId=0d9658313ea, topicName=新基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=dd7919746090, createdName=12498b3em14(暂无昵称), createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622207, encodeId=0aab162220e7a, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, 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 Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=)]
2015-01-24 zhaojie88

#ART#

57 0
[GetPortalCommentsPageByObjectIdResponse(id=1355958, encodeId=3a51135595897, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1562285, encodeId=d3b61562285c7, content=<a href='/topic/show?id=f69d864413' target=_blank style='color:#2F92EE;'>#HEART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8644, encryptionId=f69d864413, topicName=HEART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1616355, encodeId=be3b16163555a, content=<a href='/topic/show?id=0d9658313ea' target=_blank style='color:#2F92EE;'>#新基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=58313, encryptionId=0d9658313ea, topicName=新基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=dd7919746090, createdName=12498b3em14(暂无昵称), createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622207, encodeId=0aab162220e7a, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, 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 Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=)]
2015-01-24 爆笑小医

#HEART#

62 0
[GetPortalCommentsPageByObjectIdResponse(id=1355958, encodeId=3a51135595897, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1562285, encodeId=d3b61562285c7, content=<a href='/topic/show?id=f69d864413' target=_blank style='color:#2F92EE;'>#HEART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8644, encryptionId=f69d864413, topicName=HEART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1616355, encodeId=be3b16163555a, content=<a href='/topic/show?id=0d9658313ea' target=_blank style='color:#2F92EE;'>#新基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=58313, encryptionId=0d9658313ea, topicName=新基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=dd7919746090, createdName=12498b3em14(暂无昵称), createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622207, encodeId=0aab162220e7a, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, 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 Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=)]
2015-01-24 12498b3em14(暂无昵称)

#新基因#

64 0
[GetPortalCommentsPageByObjectIdResponse(id=1355958, encodeId=3a51135595897, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1562285, encodeId=d3b61562285c7, content=<a href='/topic/show?id=f69d864413' target=_blank style='color:#2F92EE;'>#HEART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8644, encryptionId=f69d864413, topicName=HEART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1616355, encodeId=be3b16163555a, content=<a href='/topic/show?id=0d9658313ea' target=_blank style='color:#2F92EE;'>#新基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=58313, encryptionId=0d9658313ea, topicName=新基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=dd7919746090, createdName=12498b3em14(暂无昵称), createdTime=Sat Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622207, encodeId=0aab162220e7a, content=<a href='/topic/show?id=b9578094833' target=_blank style='color:#2F92EE;'>#肌病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, 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 Jan 24 00:24:00 CST 2015, time=2015-01-24, status=1, ipAttribution=)]
2015-01-24 爆笑小医

#肌病#

66 0

内科

外科

专科科室

热点

按科室浏览

临床工具

科研工具

其他工具

科研数智化

真实世界研究解决方案

数字化学术传播解决方案

其它

心血管

Eur Heart J：解开“僵硬心”之谜：一种新基因突变导致的心肌病

相关资讯

科室

工具

服务