MYH7基因变异相关儿童心肌病表型与基因型特点的回顾性分析

Phenotype and genotype characteristics of children with cardiomyopathy associated with MYH7 gene mutation:a retrospective analysis

目的分析MYH7基因变异相关儿童心肌病(cardiomyopathy,CM)的临床表型及基因型特点。方法回顾性分析河北省儿童医院心内科诊治的5例MYH7基因变异所致CM患儿的临床资料。结果5例CM患儿中,女3例,男2例,均存在MYH7基因变异,共检出7种变异位点,其中5种为未报道变异。肥厚型心肌病3例,扩张型心肌病和致密化不全型心肌病各1例。首诊年龄为6~156个月。首诊咳嗽、呼吸急促、吃奶欠佳、口唇发绀等心力衰竭表现2例,均伴生长发育落后;心悸、黑蒙、晕厥1例;发热、流涕伴肝功能异常1例;5例均有活动耐力减低。5例均接受改善心功能药物治疗,随访7~24个月,均存活。结论MYH7基因变异所致CM患儿起病年龄不一,首诊时多缺乏特异性临床表现,可出现肥厚型心肌病、扩张型心肌病或致密化不全型心肌病表型。早期进行基因诊断和药物干预的患儿短期内预后良好。

Objective To investigate the clinical phenotype and genotype characteristics of children with cardiomyopathy(CM)associated with MYH7 gene mutation.Methods A retrospective analysis was conducted on the medical data of five children with CM caused by MYH7 gene mutation who were diagnosed and treated in the Department of Cardiology,Hebei Children's Hospital.Results Among the five children with CM,there were three girls and two boys,all of whom carried MYH7 gene mutation.Seven mutation sites were identified,among which five were not reported before.Among the five children,there were three children with hypertrophic cardiomyopathy,one child with dilated cardiomyopathy,and one child with noncompaction cardiomyopathy.The age ranged from 6 to 156 months at the initial diagnosis.At the initial diagnosis,two children had the manifestations of heart failure such as cough,shortness of breath,poor feeding,and cyanosis of lips,as well as delayed development;one child had palpitation,blackness,and syncope;one child had fever,runny nose,and abnormal liver function;all five children had a reduction in activity endurance.All five children received pharmacotherapy for improving cardiac function and survived after follow-up for 7-24 months.Conclusions The age of onset varies in children with CM caused by MYH7 gene mutation,and most children lack specific clinical manifestations at the initial diagnosis and may have the phenotype of hypertrophic cardiomyopathy,dilated cardiomyopathy or noncompaction cardiomyopathy.The children receiving early genetic diagnosis and pharmacological intervention result in a favorable short-term prognosis.