儿童扩张型心肌病基因突变及临床特征研究  

Gene mutation and clinical characteristics of dilated cardiomyopathy in children

作　　者：陈成[1] 苏丹艳 覃素元[1] 黄钰钦 叶冰冰[1] 黄滟云 庞玉生[1] CHEN Cheng;SU Danyan;QIN Suyuan;HUANG Yuqin;YE Bingbing;HUANG Yanyun;PANG Yusheng(Department of Pediatrics,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院儿科,南宁530021

出　　处：《广西医科大学学报》2025年第1期108-113,共6页Journal of Guangxi Medical University

基　　金：广西西医类别自筹经费科研课题基金资助项目(No.20210981);广西科技基地和人才专项(No.桂科AD22035219)。

摘　　要：目的:分析儿童原发性扩张型心肌病(DCM)的基因突变及临床特征。方法:收集2015年6月至2021年7月在广西医科大学第一附属医院接受治疗的27例DCM患儿的基因检测结果及临床资料,根据基因检测结果进行分组,比较两组临床特征,并探讨基因突变及预后情况。结果:27例DCM患儿,男16例,女11例,年龄0.3~13.7岁,平均(8.5±4.4)岁;基因突变阳性13例,占48.1%(13/27)。两组在年心功能Ⅲ/Ⅳ级占比、左心室舒张末径、左心室射血分数、死亡率等方面比较,差异无统计学意义(P>0.05)。在27例患儿中发现22种基因突变,共有62个突变位点,TTN 21个,占比最高(33.8%),平均随访时间为(19.3±17.9)个月,死亡15例,死亡率为55.5%(15/27),基因突变阳性组死亡6例,包括TPM1基因2例,DMD、DSP、TNNI、TTN基因各1例。结论:基因致病性明确的患儿死亡率高,暂未发现基因突变阳性与儿童DCM首诊时的严重程度及患儿预后方面的显著相关性。Objective:To analyze the gene mutation and clinical characteristics of idiopathic dilated cardiomyopathy(DCM)in children.Methods:The results of genetic testing and clinical data of 27 children with DCM treated in the First Affiliated Hospital of Guangxi Medical University from June 2015 to July 2021 were collected.The patients were grouped according to results of genetic testing,the clinical characteristics of the two groups were compared,and the gene mutation and prognosis were explored.Results:There were 27 cases of children with DCM,including 16 cases of male and 11 cases of female,ranging from 0.3 to 13.7 years old,with an average age of(8.5±4.4)years.A total of 13 cases were positive for genetic mutation,accounting for 48.1%(13/27).There were no significant differences in the proportion of annual NYHA classⅢ/Ⅳ,left ventricular enddiastolic diameter,left ventricular ejection fraction,and mortality between the two groups(P>0.05).A total of 62 mutation sites were found in 22 kinds of gene mutations in 27 children,among which TTN was 21,accounting for the highest proportion(33.8%).The average follow-up time was(19.3±17.9)months,and 15 cases died,with a mortality rate of 55.5%(15/27).Six cases died in the mutation-positive group,including two cases of TPM1 gene.DMD,DSP,TNNI and TTN genes were found in one case each.Conclusion:The mortality rate is high in children with definite genetic pathogenicity.There is no statistically significant correlation between positive gene mutation and the severity of DCM in children at the first diagnosis as well as the prognosis of children with DCM.

关 键 词：扩张型心肌病 基因突变 预后 儿童 

分 类 号：R542.2[医药卫生—心血管疾病]