Song Chunze,Jiang Guoping,Ye Jingjing,et al.Clinical analysis of tuberous sclerosis complex complicated by cardiac rhabdomyomas in children[J].Journal of Clinical Pediatric Surgery,2019,18(09):767-770.[doi:10.3969/j.issn.1671-6353.2019.09.012]
小儿结节性硬化症合并心脏横纹肌瘤临床特征研究
- Title:
- Clinical analysis of tuberous sclerosis complex complicated by cardiac rhabdomyomas in children
- Keywords:
- Tuberous Sclerosis; Heart; Rhabdomyoma; Ultrasonography; Child
- 分类号:
- R732.1;R445.1
- 摘要:
- 目的 探究小儿结节性硬化症（tuberous sclerosis complex，TSC）合并心脏横纹肌瘤（cardiac rhabdomyoma，CRM）的临床特点。方法 以2008年5月至2017年11月由浙江大学医学院附属儿童医院确诊合并CRM的TSC患儿。在剑突下、心尖、胸骨旁及胸骨上窝等切面多方位、多角度对心脏进行超声心电图检查，记录心脏肿瘤后重点观察肿瘤的位置、数量、形状、大小、活动及回声情况，进一步行头颅MRI、头颅CT、心电图、脑电图等检查确诊TSC。有手术指征的心脏肿瘤病例行肿瘤切除术，无手术指征的心脏肿瘤病例则通过超声随访观察。结果 34例临床确诊为TSC患儿中，首发临床症状为癫痫23例（68%）。首诊时超声心动图检查发现CRM后确诊为TSC 11例（32%），其中胎儿超声心动图检查发现CRM 1例。34例TSC患儿中心脏肿瘤多发24例（71%），单发10例（29%），以左心室最多。随访21例患儿（随访时间3个月至1年2个月）中7例经手术病理证实为CRM，8例CRM自发缩小或减少，2例CRM完全消退，4例变化不明显。结论 癫痫发作为TSC患儿较为常见的首发症状，故此类患儿应常规行心脏超声检查。心脏超声首诊如发现以左心室为主的多发高回声肿瘤应警惕TSC的存在，结合心脏超声检查有助于该病的早期诊断和治疗。
- Abstract:
- Objective To analysis the clinical features of tuberous sclerosis complex (TSC) complicated by cardiac rhabdomyomas (CRM) in children.Methods The initial clinical symptoms of children with TSC complicated by CRM confirmedin our hospital from January 2008 to November 2017.Pediatric echocardiography was performed to examine the heart from multiple directions and angles in the subxiphoid process,the apex of the heart,the side of the sternum and the superior thoracic fossa.The location,number,shape,size,activity and echo of the tumor were mainly observed after cardiac tumor was discovered.And finally,TSC was further confirmed by head MRI/CT,electrocardiogram,electroencephalogram and other examinations.Tumor resection was performed for cardiac tumors with surgical indications,and ultrasonic follow-up was performed for cardiac tumors without surgical indications.Results 34 cases of clinical definite cases,23 cases of epileptic seizure (68%); It was found that after cardiac tumor was first diagnose,that TSC 11 cases (32%) were confirmed after clinical and other examination.21 child patients were followed up,7 cases were further confirmed CRM by operation and pathology,and 8 cases shrank spontaneously,2 cases regressed completely,while another 4 cases had no obvious changes.Conclusion Epileptic seizure is the first symptom of TSC,so this kind of children should be routinely examined by echocardiography.The presence of TSC should be alert to the presence of multiple hyperechoic tumors in the left ventricle.Clinical combined with echocardiography is helpful for early diagnosis and treatment of this disease.
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备注/Memo
收稿日期:2018-03-07。
通讯作者:蒋国平,Email:jiangguoping.168@zju.edu.cn