MYH7基因突变致儿童左室心肌致密化不全2例并文献复习  

Two Cases of Left Ventricular Noncompaction in Children Caused by Mutation of MYH7 Gene and Literature Review

作　　者：刘晓月 赵翠芬[1] LIU Xiaoyue;ZHAO Cuifen(Qilu Hospital,Shandong University,Jinan 250012,China)

机构地区：[1]山东大学齐鲁医院,济南250012

出　　处：《中国医药指南》2024年第3期95-98,共4页Guide of China Medicine

摘　　要：目的 探讨MYH7基因突变致儿童左室心肌致密化不全(LVNC)的临床特点并进行相关文献复习。方法 回顾性分析2例LVNC患儿的临床资料,包括临床症状、辅助检查和治疗情况,以及基因检测结果。结果 2例患儿均为1岁以下(10个月零11天和1个月零4天)。起病表现为咳嗽、气促、吃奶差等。实验室检查示N端脑钠肽前体(NT-proBNP)升高(20 132 pg/ml和14 727 pg/ml)。影像学检查示心影增大。动态心电图提示心律失常。超声心动图(UCG)提示心肌病变,左室心肌致密化不全,左室扩大,左室收缩功能减低(LVEF 23%和33%)。基因检测均提示MYH7基因突变。住院后均给予强心、利尿、抗凝等对症治疗。结论 MYH7基因突变致儿童LVNC发病年龄早,症状明显,病情进展迅速,该病可引起儿童慢性心力衰竭,对于首发有咳嗽、气促、吃奶差、NT-proBNP明显升高、心影增大、心律失常的患儿,应及时进行UCG、心脏磁共振(CMR)及基因检测等,可确诊LVNC并明确相关基因突变类型,有利于患儿的及时治疗及改善预后。Objective To probe into the clinical characteristics of left ventricular noncompaction(LVNC)in children caused by mutation of MYH7 gene and review literature.Methods The clinical data of 2 children with LVNC were retrospectively analyzed,including clinical symptoms,assistant examinations and treatment process,and genetic testing results.Results 2 children were both less than 1 year old(10 months 11 days and 1 month 4 days).Their primary symptoms were cough,shortness of breath and poor feeding.Laboratory examination showed that NT-proBNP increased(20132 pg/ml and 14727 pg/ml).Imaging examination showed enlargement of cardiac shadow.Dynamic electrocardiogram showed arrhythmia.LVNC was observed in ultrasonic cardiogram(UCG),persistently with left atrioventricular enlargement and left ventricular dysfunction(LVEF 23%and 33%).Genetic test showed mutation in MYH7 gene.After hospitalization,they both received symptomatic treatment such as cardiotonic,diuretic and anticoagulation.Conclusions LVNC caused by mutation of MYH7 gene has young onset age and obvious symptoms,and progresses quickly.This disease can cause chronic heart failure in children.For children with cough,shortness of breath,poor feeding,significant increase of NT-proBNP,enlargement of cardiac shadow,and arrhythmia,UCG and cardiacmagnetic resonance(CMR)and genetic testing should be performed in time to make a definite diagnosis of LVNC and identify the types of related gene mutations,which is helpful to improve treatment and prognosis.

关 键 词：MYH7基因 儿童 左室心肌致密化不全 

分 类 号：R725.6[医药卫生—儿科] R542.2[医药卫生—临床医学]