伴有左心室扩大的儿童肥厚型心肌病临床特征及预后

Clinical characteristics and prognosis of hypertrophic cardiomyopathy with left ventricular enlargement in children

目的总结伴有左心室扩大的儿童肥厚型心肌病(HCM)的临床特征及预后。方法回顾分析2008年7月至2020年3月住院HCM患儿的临床资料,随访至2020年4月。根据首次住院超声心动图左心室舒张末期内径(LVEDD)-Z值,将患儿分为左心室扩大组(LVEDD-Z>2)和对照组(LVEDD-Z≤2),比较两组临床特征及预后。结果纳入61例患儿,左心室扩大组14例,中位诊断年龄5个月(范围2~110个月),男10例、女4例;对照组47例,中位诊断年龄6个月(范围9天~14岁),男30例、女17例。左心室扩大组心力衰竭、心功能分级Ⅲ和Ⅳ级以及房性期前收缩比例均高于对照组,差异有统计学意义(P<0.05)。超声心动图显示左心室扩大组的左心房扩大、右心室扩大、中重度三尖瓣反流、左心室射血分数(LVEF)<55%、舒张功能下降的比例均高于对照组,差异有统计学意义(P<0.05)。5例左心室扩大组患儿行基因检测,3例阳性,分别为MYH7合并TTN基因变异、MYH7基因变异、糖原贮积病Ⅱ型。左心室扩大组随访12例,随访中位时间13.5个月,5例死亡,4例诊断后1年内死亡,均因心力衰竭恶化。结论左心室扩大患儿HCM占比不低,可能因混合型心肌病或心力衰竭引起,也可能与代谢性心肌病、多基因变异或基因表达的异质性有关。

Objective To explore the clinical characteristics and prognosis of hypertrophic cardiomyopathy(HCM)with left ventricular enlargement in children.Methods The clinical data of HCM children hospitalized from July 2008 to March 2020 were retrospectively analyzed,and the followed-up was conducted until April 2020.According to the Z value of left ventricular end diastolic diameter(LVEDD)measured by initial hospitalization echocardiography,the patients were divided into left ventricular enlargement group(LVEDD-Z>2)and control group(LVEDD-Z≤2),and the clinical characteristics and prognosis between the two groups were compared.Results Sixty-one children were enrolled,including 14 patients(10 boys and 4 girls)in the left ventricular enlargement group with a median age of 5 months(ranging from 2 to 110 months)at diagnosis.In the control group,47 patients(30 boys and 17 girls)had a median age of 6 months(ranging from 9 days to 14 years)at diagnosis.The proportions of heart failure,heart function classⅢandⅣand atrial premature beat were higher in the left ventricular enlargement group than those in the control group,and the differences were statistically significant(P<0.05).Echocardiography showed that the proportions of left atrium enlargement,right ventricular enlargement,moderate and severe tricuspid regurgitation,left ventricular ejection fraction(LVEF)<55%and diastolic function decline in the left ventricular enlargement group were higher than those in the control group,and the differences were statistically significant(P<0.05).Five children in left ventricular enlargement group underwent genetic testing,and 3 children were tested positive to have MYH7 with TTN gene mutation,MYH7 gene mutation and glycogen storage disease type II respectively.Twelve patients in the left ventricular enlargement group were followed up and median follow-up time was 13.5 months.Five patients died,4 of them died within 1 year after diagnosis,and all died of worsening heart failure.Conclusions The proportion of HCM in children with left ventricular enlargement is not low,which may be caused by mixed cardiomyopathy or heart failure,or may be related to metabolic cardiomyopathy,polygenic variation or gene expression heterogeneity.