厉玉彬

【摘要】目的 探讨超声心动图应用在小儿心脏横纹肌瘤（CRM）的价值及其与结节性硬化症（TSC）的关系。方法 选择我院收治的确诊为结节性硬化症患儿30例作为研究对象，入组对象家属愿意配合研究，均有完整的超声心动图资料，回顾性分析他们的资料，结合临床特征与辅助检查，探讨其心脏横纹肌瘤情况，并分析二者的关系。结果 30例结节性硬化症患儿经临床检查，证实有心脏横纹肌瘤18例，其中多发部位肿瘤有14例，左心室最多，形态主要为椭圆形或圆形、强回声结节。结论 超声心动图诊断小儿结节性硬化症时应考虑有无心脏横纹肌瘤，根据其超声特点可为临床诊断与治疗提供更可靠的依据，便于尽早检出心脏横纹肌瘤情况。

【关键词】小儿；心脏横纹肌瘤；结节性硬化症；超声心动图

【中图分类号】R445.1 【文献标识码】A 【文章编号】ISSN.2095-6681.2017.29..02

【Abstract】Objective To explore the value of echocardiography in pediatric cardiomyoma （CRM） and its relationship with tuberous sclerosis （TSC）.Methods Our hospital diagnosed as children with tuberous sclerosis 30 cases as the research object， the set of objects' families are willing to cooperate with research， have complete echocardiographic data， their data were retrospectively analyzed， and auxiliary examination combined with clinical characteristics， discuss the cardiac rhabdomyoma situation， and analyzes the relationship between the two.Results 30 cases of children with tuberous sclerosis by clinical examination， confirmed 18 cases with cardiac rhabdomyoma， including 14 cases of multiple parts of the tumors most left ventricle， form mainly for the oval or round， strong echo nodules. Conclusion Echocardiography in the diagnosis of children with tuberous sclerosis should be considered when the presence of cardiac rhabdomyoma， according to the characteristics of ultrasonic can be provide more reliable basis for clinical diagnosis and treatment， easy to detect cardiac rhabdomyoma situation as soon as possible.

【Key words】Children；Cardiac rhabdomyoma；Tuberous sclerosis；echocardiogram

結节性硬化症（TSC）作为多器官组织缺陷与错构瘤为主要特这个的系统性疾病，主要为常染色体显性遗传性疾病，发病率约为1/6000-1/万。研究指出本病致病基因主要是TSC1与TSC2，前者位于第9号染色体，后者位于第16号染色体[1]。文献报道指出，结节性硬化症在心脏的表现主要是心脏横纹肌瘤（CRM），且指出CRM属于TSC主要诊断指标，认为TSC患者CRM发生和进展等情况，并评估他们的血流动力学与电生理情况[2]，可为判断病情与评估预后提供依据。为了进一步探讨超声心动图应用在小儿心脏横纹肌瘤的价值及其与结节性硬化症的关系，我院将收治的30例结节性硬化症患儿进行了如下研究与报道。……