Di Liang C, Ko S F, Huang S C
Department of Pediatrics, Chang Gung Children's Hospital, 123 Ta Pei Road, Niao Sung Hsiang, Kaohsiung County 833, Taiwan.
J Clin Ultrasound. 2000 Oct;28(8):381-6. doi: 10.1002/1097-0096(200010)28:8<381::aid-jcu2>3.0.co;2-d.
The objective of this study was to demonstrate the clinical presentation, echocardiographic findings, and morbidity and mortality rates for cardiac rhabdomyoma in Chinese infants and children by using echocardiography.
Two-dimensional echocardiography was performed at our institution from 1992 through 1999 on 12,800 children under 15 years of age. The diagnoses of cardiac rhabdomyoma were made primarily by echocardiography based on the presence of multiple tumors, cardiac tumors associated with tuberous sclerosis (TS), or histopathologic examination of surgical specimens. All patients were evaluated with 2-dimensional and Doppler echocardiography and then on follow-up examination every 3-6 months. Complete tumor regression was defined as no tumor visible by echocardiography. Partial tumor regression was defined as a decrease in tumor size of at least 15% from the previously measured size.
A total of 29 tumors were found in 11 patients, 8 of whom had either TS or a family history of TS in 1 or more first-degree relatives. There were 9 boys and 2 girls 1 day-6.5 years old; (mean, 1.1 years). Three patients (newborns with heart failure) died, 2 after emergency surgery and 1 of intractable heart failure. The remaining 8 patients were managed conservatively and monitored for a mean duration of 3.3 years. Follow-up studies revealed that, of the 22 tumors in these 8 patients, 7 completely regressed, 7 partially regressed, and 8 remained stable. Our results showed no relationship between the tumor location and the regression rate (p = 0.34).
Cardiac rhabdomyoma often presents in TS patients with no major arrhythmia or hemodynamic obstruction. However, in symptomatic neonates with or without TS, cardiac rhabdomyoma is usually fatal. Meticulous prenatal screening and routine echocardiographic examinations of patients with TS can reveal subclinical or clinically occult cardiac rhabdomyomas.
本研究的目的是通过超声心动图展示中国婴幼儿及儿童心脏横纹肌瘤的临床表现、超声心动图检查结果以及发病率和死亡率。
1992年至1999年在我们机构对12800名15岁以下儿童进行了二维超声心动图检查。心脏横纹肌瘤的诊断主要基于超声心动图发现多个肿瘤、与结节性硬化症（TS）相关的心脏肿瘤或手术标本的组织病理学检查。所有患者均接受二维和多普勒超声心动图检查，然后每3 - 6个月进行一次随访检查。完全肿瘤消退定义为超声心动图未见肿瘤。部分肿瘤消退定义为肿瘤大小较之前测量值至少减小15%。
11例患者共发现29个肿瘤，其中8例患者有TS或1名及以上一级亲属有TS家族史。有9名男孩和2名女孩，年龄1天至6.5岁；（平均1.1岁）。3例患者（新生儿心力衰竭）死亡，2例术后急诊死亡，1例死于顽固性心力衰竭。其余8例患者采用保守治疗，平均监测3.3年。随访研究显示，这8例患者的22个肿瘤中，7个完全消退，7个部分消退，8个保持稳定。我们的结果显示肿瘤位置与消退率之间无相关性（p = 0.34）。
心脏横纹肌瘤常出现在无严重心律失常或血流动力学障碍的TS患者中。然而，对于有症状的新生儿，无论有无TS，心脏横纹肌瘤通常是致命的。对TS患者进行细致的产前筛查和常规超声心动图检查可发现亚临床或临床隐匿性心脏横纹肌瘤。
