Cardiac rhabdomyoma and tuberous sclerosis: Prenatal diagnosis and follow-up

This article reports 4 cases with cardiac rhabdomyomas diagnosed during intrauterine life. Echocardiographic follow-up at 9–30 months showed regression of the tumors in 3 cases (75%). Two cases (50%) developed tuberous sclerosis during that period. Fetal echocardiography promotes early diagnosis of tuberous sclerosis through prenatal detection of cardiac rhabdomyoma, and facilitates genetic counselling of families at risk     

The natural history of cardiac rhabdomyoma with and without tuberous sclerosis

The aim of the present study is to contribute to the knowledge of the natural history of cardiac rhabdomyoma in children with and without tuberous sclerosis. In a retrospective study, 33 children with cardiac rhabdomyoma were collected from three pediatric cardiology centres. In 30/33 patients tuberous sclerosis was associated. High prevalence of cardiac rhabdomyoma was found in infancy, with 21/23 detected before the age of 1 year, and 11/33 before 1 month of age. Cardiac manifestations were present in 19 patients: cardiac rhythm disturbances were detected in 13; in 6/33 a Wolff-Parkinson-White syndrome was documented, of which 4 presented paroxysmal arrhythmias. Obstructive or regurgitative phenomena were present in 5; and in 2 patients surgical removal proved necessary. With the exception of one tumoural mass in the right atrium, all 77 tumours were located somewhere in the ventricles, including at atrioventricular valve level. Because of spontaneous regression of most of the tumoural masses, treatment should at first be symptomatic, while surgical removal is required only in life-threatening conditions, as documented in 2 of our 33 patients.     

结节性硬化症合并心脏横纹肌瘤15例临床分析

目的　研究结节性硬化症(TSC)相关的心脏横纹肌瘤(CRM)的临床特点。方法　收集15例合并CRM的TSC患儿的临床资料, 分析其临床特征及基因突变结果。结果　11例(73%)患儿为多发CRM, 肿瘤绝大部分位于左右心室, 在心脏彩超上显示多数呈类圆形强回声团, 边界清晰。3例患儿出现心律失常, 2例发生心力衰竭。2例患儿行基因检测, 均检测到TSC基因致病性突变, 分别为TSC1基因和TSC2基因突变。随访3例患儿(随访时间6个月~3年2个月), 其CRM均自发缩小或消退。结论 TSC患儿合并CRM多为多发, 部分患儿可出现心力衰竭及心律失常。心脏彩超是发现CRM的重要方法。CRM可能有自然消退的倾向。TSC基因检测可在分子遗传学上确诊TSC。     

小儿结节性硬化症合并癫癎的随访研究

目的：调查结节性硬化症（TSC）合并癫癎的治疗转归及癫癎反复发作的高危因素。方法：回顾性分析我院66例TSC患儿的资料。结果：66例TSC患儿中,随访47例,随访时间为7个月至9.3年,平均4.5±2.6年。患儿现在年龄7.7±4.1岁,癫癎发作类型：40%有婴儿痉挛症,51%有强直性发作,32%有部分性发作,强直-阵挛性发作占6%,多灶性发作、失张力发作、不典型失神发作、抑制性运动发作各占2%。目前使用抗癫癎药1.9±0.86种,中位数1种。26%仍然癫癎发作,70%无发作,4%死亡。手术治疗3例,均在继续用药,随访1.5年以上,无发作。应用非条件logistic回归方法分析,发现起病年龄（RR=1.8, 95% CI 1.0～3.2, P=0.050）、抗癫癎药的种类(RR=4.8, 95% CI 1.2～18.6, P=0.024)、强直发作(RR=0.003, 95% CI 0.0～0.2, P=0.04)、性别(RR=0.016, 95% CI 0.0～0.5, P=0.017）是癫癎反复发作的高危因素。30例7岁以上儿童57%例可以上普通学校, 10%上特殊学校; 33%因为智力、言语发育落后不能上学。结论：对TSC合并癫癎进行抗癫癎治疗可以达到大部分无发作。癫癎发作起病年龄早、强直发作、需要多种抗癫癎药是癫癎反复发作的高危因素。［中国当代儿科杂志,2009,11（12）：996-998］     

应用聚合酶链反应-单链构象多态性技术分析结节性硬化症基因突变

目的 检测结节性硬化症基因外显子突变。方法 应用聚合酶链反应-单链构象多态性（PCR-SSCP）技术分析28例结节性硬化症患者TSC1和TSC2基因外显子突变情况。结果 28例中有4例发生TSC1基因突变,其中包括1个无义突变,2个错义突变和1个移码突变;有13例患者发生TSC2基因突变,其中包括2个无义突变,2个移码突变,1个缺失和8个错义突变,有2例患者在TSC1及TSC2基因上均发生突变,另有2例患者在TSC2核苷位1960上出现同样突变,TSC1突变患者和TSC2突变患者之间临床表现无明显差异。结论 突变广泛分布于TSC1及TSC2基因各个外显子上,没有集聚于某个外显子,基因突变不能反映疾病的临床表现及严重程度。     

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??Abstract??Objective??To study the characteristics of mutation of TSC1 gene exan 15 in tuberous sclerosis complex. Methods??Totally 21 children with confirmed clinical manifestations of TSC and 38 parents of the children coming from 21 TSC families were included in the study. In total?? we studied 6 familial cases and 15 sporadic cases. The mutation of exon 15 in TSC1 gene was identified by denaturing high performance liquid chromatography ??DHPLC?? and further confirmed by direct sequencing. Results??After being confirmed by DNA direct sequencing?? mutations were identified in 4/21??19%??patients?? in which there were c.1708~1709delAG??p.Arg570GlyfsX17?? and c.1888~1891delAAAG??p.Lys630GlnfsX22?? two small deletion mutations and one c.1460C > G??p.Ser487Cys?? missense mutation. c.1460C > G??p.Ser487Cys?? mutation was reported the second. One family case and three sporadic cases were found. In our study?? the mutation frequency of exon 15 in TSC1 gene was 4/21??19%???? which was higher than other reports. The main clinical characters of the patients with mutation on exon 15 in TSC1 gene were brain and skin impair. We also found that the patients with the same mutation c.1888~1891delAAAG??p.Lys630GlnfsX22?? had different phenotype?? but the patients with different mutations c.1708~1709delAG??p.Arg570GlyfsX17?? and c.1888~1891delAAAG ??p.Lys630GlnfsX22?? nearly had the same phenotype. Conclusion??Totally three TSC1 gene mutations that have never been reported in China are identified.