Dhulipudi Bhargavi, Bhakru Shweta, Rajan Saileela, Doraiswamy Vinoth, Koneti Nageswara Rao
Department of Pediatric Cardiology, Care Hospital, Hyderabad, Telangana, India.
Ann Pediatr Cardiol. 2019 Jan-Apr;12(1):45-48. doi: 10.4103/apc.APC_79_18.
Cardiac rhabdomyoma (CR) often shows spontaneous regression and needs close follow-up. These tumors may be associated with tuberous sclerosis complex (TSC), caused by the disinhibition of m-TOR protein.
The aim of the study is to observe the efficacy of everolimus in infants with significant CR.
This is a single-center prospective observational study including infants with significant CR causing either clinical symptoms or obstruction to the blood flow. Everolimus was administered at a dose of 4.5 mg/M2/wk till the symptomatic improvement. Liver and renal function tests were monitored during treatment.
There were six cases of suspected CR included in the study. Median age and weight of patients were 5 days (range: 1-90 days) and 3.2 kg (range: 2.2-4.5 kg), respectively. One patient was excluded after surgical excision biopsy during concomitant closure of associated large perimembranous ventricular septal defect confirmed it as a fibroma. The remaining all five cases showed regression of tumor during mean follow-up of 6.1 ± 5.1 months. One child developed varicella infection necessitating temporary discontinuation of medicine during follow-up. One case had sudden death at 4 months of age.
Everolimus appears to be useful in selected cases of symptomatic CR. Multicentric studies are needed to determine its safety and efficacy in larger population.
心脏横纹肌瘤（CR）常表现出自发性消退，需要密切随访。这些肿瘤可能与结节性硬化症复合体（TSC）相关，由m-TOR蛋白的去抑制作用引起。
本研究旨在观察依维莫司对患有显著CR的婴儿的疗效。
这是一项单中心前瞻性观察性研究，纳入了因临床症状或血流梗阻而患有显著CR的婴儿。依维莫司以4.5mg/M2/周的剂量给药，直至症状改善。治疗期间监测肝肾功能检查。
本研究纳入6例疑似CR病例。患者的中位年龄和体重分别为5天（范围：1-90天）和3.2kg（范围：2.2-4.5kg）。1例患者在手术切除活检时，同时关闭相关的大型膜周部室间隔缺损，确诊为纤维瘤后被排除。其余5例在平均6.1±5.1个月的随访期间均显示肿瘤消退。1名儿童在随访期间发生水痘感染，需要暂时停药。1例在4个月大时突然死亡。
依维莫司在有症状的CR特定病例中似乎有用。需要进行多中心研究以确定其在更大人群中的安全性和疗效。
