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《国际心血管病杂志》[ISSN:1006-6977/CN:61-1281/TN]

期数:

2023年03期

页码:

175-180

栏目:

临床研究

出版日期:

2023-05-30

文章信息/Info

Title:

Clinical features and genetic profile in hypertrophic or dilated cardiomyopathy children with MYH7 gene mutation?

作者:

麻继丹; 张锰; 王剑; 李奋; 傅立军; 高伟; 刘廷亮; 张玉奇; 沈捷

200127 上海交通大学医学院附属上海儿童医学中心心内科（麻继丹，张锰，李奋，傅立军，高伟，刘廷亮，张玉奇，沈捷），遗传分子诊断科（王剑）

Author(s):

MA Jidan¹; 2; ZHANG Meng¹; 2; WANG Jian¹; 2; LI Fen¹; 2; FU Lijun¹; 2; GAO Wei¹; 2; LIU Tingliang¹; 2; ZHANG Yuqi¹; 2; SHEN Jie 1.¹; 2

1.Department of Cardiology, ShanghaiChildren'2.s Medical Centre, Shanghai Jiao Tong University School of Medicine, Shanghai? 200127

关键词:

肥厚型心肌病; 扩张型心肌病; MYH7

Keywords:

Hypertrophic cardiomyopathy;  Dilated cardiomyopathy;  MYH7

分类号:

-

DOI:

10.3969/j.issn.1673-6583.2023.03.012

文献标识码:

-

摘要:

目的：比较有MYH7基因突变的肥厚型心肌病（HCM）与扩张型心肌病（DCM）患儿的临床特征及基因突变特点，探讨MYH7基因突变对心肌病临床表型的影响。方法：回顾性分析2015年1月至2021年1月，在上海儿童医学中心通过基因检测发现携带MYH7基因突变的30例HCM或DCM患者，收集并分析2组不同心肌病患儿的临床资料与基因突变信息。结果：30例有MYH7基因突变患儿中检出32个突变位点，共26种不同突变位点，其中10种为国内外未报道的突变位点。29个（90.6%）突变位点为错义突变，30个（93.7%）突变位点位于肌球蛋白头颈部。在30例MYH7基因突变患儿中，HCM患儿21例（70%），DCM患儿9例（30%）。2组患儿在性别，诊断年龄，阳性家族史，N末端脑钠肽前体、心肌肌钙蛋白Ⅰ、肌酸激酶同工酶以及血清钙离子水平，心电图异常等方面的差异无统计学意义。结论：不同位点的MYH7基因突变可引起HCM或DCM完全不同的临床表型，在儿童期或疾病早期临床表现无明显差异。

Abstract:

Objective: To compare clinical features and genetic profile between hypertrophic (HCM) or dilated cardiomyopathy (DCM) children with MYH7 gene mutation, and to explore the potential role of this gene mutation in different phenotypes of cardiomyopathy.? Methods: Clinical data and gene mutation profile were retrospectively collected from Shanghai Children's Medical Center between January 2015 and January 2021, and were compared among HCM and DCM children with MYH7 gene mutation. ? Results: There were 21 cases of HCM (70%) and 9 cases of DCM (30%) with MYH7 gene mutation. A total of 32 mutation sites (including 26 different types) were detected, 10 of which were not reported previously. 29 (90.6%) mutation sites were missense mutations, and 30 (93.7%) mutation sites were located atthe head and neck of myoglobin. HCM and DCM children with MYH7 gene mutation did not significantly differ with respect to gender, age, family history, plasma concentrations of NT-proBNP, cTnI, CK-MB and calcium, and electrocardiographic abnormalities.? Conclusion:MYH7 gene mutation could cause different phenotypes of HCM or DCM. There is no significant difference in clinical manifestations during childhood or early stage of the disease.

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备注/Memo

备注/Memo:

通信作者：沈捷， E-mail：she6nt@163.com

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更新日期/Last Update: 2023-05-30