不同基因型结节性硬化症心脏表型研究  

Study on Cardiac Manifestation of Tuberous Sclerosis Complex with Different Genotypes

作　　者：郑淋[1] 王旭[2] 张鑫[1] 金兰中[1] 王芳韵[1] 吴群 马宁[1] Zheng Lin;Wang Xu;Zhang Xin;Jin Lanzhong;Wang Fangyun;Wu Qun;Ma Ning(Department of EchocardiographyBeijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;Department of Neurology,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院心脏超声科,北京市100045 [2]国家儿童医学中心,首都医科大学附属北京儿童医院神经内科,北京市100045

出　　处：《中国超声医学杂志》2021年第7期767-771,共5页Chinese Journal of Ultrasound in Medicine

摘　　要：目的探讨及分析不同基因型TSC患儿CR发病情况及其位置、大小及随诊变化情况。方法回顾性分析经临床确诊并行基因检测的TSC患儿88例,按其基因检测结果分为3组:TSC1组、TSC2组及TSC阴性组,对比分析各组CR的发病率、位置分布及其大小,并对部分随诊患儿肿瘤大小变化进行相关因素分析。结果不同基因组间CR的发生率、在心脏各腔室占比及具体位置分布均无明显统计学差异(P>0.05)。TSC阴性组CR的最大径明显小于TSC1组及TSC2组(P<0.05)。随诊患儿中CR减小或消失与初诊年龄有统计学差异(P<0.05),ROC曲线提示14.5个月龄之前初诊CR,肿瘤缩小或消失的可能性较大。结论超声心动图可以明确诊断CR,并对其进行随访监测。TSC各基因组间CR的发生率及位置分布无明显差异,无基因突变组CR大小明显小于基因突变组。CR初诊年龄<14.5个月龄可作为一项预测CR缩小或消失可能性的指标。Objective To investigate and analyze the incidence, location, size and follow-up changes of cardiac rhabdomyoma(CR) in children with different genotypes of Tuberous sclerosis complex(TSC). Methods A total of 88 children with TSC who were clinically diagnosed and underwent genetic testing in our hospital were retrospectively analyzed and divided into three groups according to their genetic testing results: TSC1 group, TSC2 group and TSC-negative group. The incidence, location distribution and size of CR in each group were compared and analyzed, and the related factors of CR size changes in some follow-up children were analyzed. Results There were no significant statistical differences in the incidence, the chamber distribution and the specific location distribution of CR among the three groups(P>0.05). The maximum diameter of CR was significantly smaller in the TSC-negative group than in the groups of TSC1 and TSC2(P<0.05). There was a statistically significant difference in diagnosis age between CR reduction or disappearance(P<0.05), and ROC curves suggested that CR was initially diagnosed before 14.5 months, the possibility of CR reduction or disappearance was more likely. Conclusions Echocardiography can diagnose CR and perform follow-up monitoring. There is no significant difference in the incidence and location distribution of CR among different TSC genotypes. The size of CR in the TSC-negative group is smaller than that in the TSC1 and TSC2 groups. The initial diagnosis age of CR less than 14.5 months may be used as a predicator of the likelihood of CR reduction or disappearance.

关 键 词：超声心动图 心脏横纹肌瘤 结节性硬化症 

分 类 号：R445.1[医药卫生—影像医学与核医学] R732.1[医药卫生—诊断学]