儿童肺动脉高压合并基因突变7例临床分析

Clinical analysis of seven cases of pulmonary hypertension in children with gene mutation

收集2014年1月-2018年3月就诊我院,右心导管确诊肺动脉高压,基因检测阳性的患儿共7例,分析其临床特点及预后转归。不明原因儿童肺动脉高压基因阳性发病率为32%,其中BMPR2突变3例,ACVRL1突变2例,FLNA突变1例,NOTCH3突变1例,KMT2D突变1例。男女比例为1∶6,初诊年龄8个月~15岁,随访时间9~31个月。所有患儿均有活动耐量下降,随访中1例因大咯血死亡,2例因心力衰竭死亡,2例出现心力衰竭加重在调整治疗后病情平稳,2例病情平稳。

A total of 7 children with pulmonary hypertension diagnosed by right cardiac catheterization and positive gene test were collected from January 2014 to March 2018. Their clinical characteristics and prognosis were analyzed. Incidence of gene mutation was 32%. Of which three were BMPR2 mutation, two were ACVRL1 mutation, one was FLNA mutation, one was NOTCH3 mutation, and one was KMT2D mutation. The ratio of male to female was 1∶6. The first diagnosis age was 8 months to 15 years old, and the follow-up time was 9 to 31 months. All the children had decreased activity tolerance. In the follow-up, 1 case died of massive hemoptysis, 2 cases died of heart failure, 2 cases developed heart failure aggravation, and 2 cases were stable.