摘要
目的:探讨基因检测对儿童心肌病遗传病因的诊断价值,并分析其临床特征及基因型-表型的关系。方法:回顾性分析2018年1月—2020年12月收治的32例心肌病患儿临床资料及基因结果。根据患儿基因结果分为基因突变阳性(A组)17例和基因突变阴性(B组)15例,并对比两组首诊左心室射血分数(LVEF)、随诊1年结局(是否死亡)之间的差异。结果:基因突变阳性率为53.1%(17/32),其中新生突变约占35.3%(6/17),临床意义不明(VUS)者46.9%(15/32)。随诊1年死亡率为28.1%(9/32),其中A组47.1%(8/17),B组6.7%(1/15),差异有统计学意义(P=0.018)。9例死亡患儿的突变基因为GAA4例、TTN3例、LMNA和TAZ各1例,其中1例GAA(c.875A>G)基因的致病性目前被分类为VUS。32例心肌病患儿以腹胀、食欲欠佳等症状最常见,仅少部分(6.2%)患儿以晕厥、休克等症状就诊。32例患儿LVEF为(49.9±18.1)%,A组LVEF为(50.8±17)%,B组LVEF为(48.9±19.8)%,差异无统计学意义(P>0.05)。结论:儿童心肌病缺乏特异性临床表现。基因突变阳性患儿近期预后相对较差。特别是GAA、LMNA、TAZ、TTN基因变异相关心肌病患儿,大多近期预后不良。
Objective To investigate the diagnostic value of genetic testing for the genetic etiology of cardiomyopathy in children,and to analyze its clinical features and genotype-phenotype relationship.Methods The clinical data and genetic results of 32 children with cardiomyopathy admitted from January 2018 to December 2020 were retrospectively analyzed.According to the genetic results of the children,they were divided into gene mutation-positive group A(17 cases)and gene mutation-negative group B(15 cases),and compared the left ventricular ejection fraction(LVEF)at the first diagnosis and the 1-year follow-up outcome(death or not)between the two groups.Results The positive rate of gene mutation was 53.1%(17/32),of which de novo mutations accounted for about 35.3%(6/17).The percent of unknown clinical significance(VUS)were 46.9%(15/32).The mortality rate one-year follow-up was 28.1%(9/32),of which 47.1%(8/17)in group A and 6.7%(1/15)in group B,with a statistically significant difference(P=0.018).The mutated genes of the 9 dead cases were GAA of 4 cases,TTN of 3 cases,LMNA of 1 case and TAZ of 1 case.Among them,1 case of GAA(c.875A>G)gene was currently classified as VUS.Among the 32 children with cardiomyopathy,abdominal distension and poor appetite were the most common symptoms,and only a small number(6.2%)of children presented with syncope and shock.The LVEF of 32 children was(49.9±18.1)%.The LVEF of group A was(50.8±17)%,and the LVEF of group B was(48.9±19.8)%,with no significant difference(P>0.05).Conclusion Children with cardiomyopathy lack specific clinical manifestations.The short-term prognosis of children with positive gene mutation is relatively poor.Especially in children with cardiomyopathy associated with GAA,LMNA,TAZ,and TTN gene variants,most of them have poor short-term prognosis.
作者
郑奎
张英谦
刘露
武菲
娄美娜
郝京霞
李博
ZHENG Kui;ZHANG Yingqian;LIU Lu;WU Fei;LOU Meina;HAO Jingxia;LI Bo(Department of Cardiology,Hebei Children's Hospital,Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease,Shijiazhuang,050031,China;Graduate School of Hebei Medical University;Graduate School of Hebei North University)
出处
《临床心血管病杂志》
CAS
北大核心
2022年第7期566-571,共6页
Journal of Clinical Cardiology
基金
河北省医学科学研究项目(No:20220714)。
关键词
儿童
心肌病
遗传
基因检测
child
cardiomyopathy
inherited
genetic testing
