Hurtado-Sierra Daniel, Ramos Garzón Judy X, Romero-Guevara Sandra L, Serrano-García Angie Y, Rojas Lyda Z
Pediatric Cardiology Unit, Instituto del Corazón de Bucaramanga, Bucaramanga, Colombia.
Nursing School, Universidad Industrial de Santander, Bucaramanga, Colombia.
Pediatr Res. 2025 Apr 26. doi: 10.1038/s41390-025-04043-8.
Cardiac rhabdomyoma (CR) is the principal cardiac tumor diagnosed in pediatric age and is commonly associated with tuberous sclerosis complex. In some patients, these masses can cause heart failure and difficult-to-control arrhythmias. There are multiple case reports on use of mammalian target of rapamycin (mTOR) inhibitors, everolimus or sirolimus, in treatment of CRs. We reviewed the current data regarding effectiveness of everolimus and sirolimus in treating of CRs in newborns with hemodynamic repercussions.
This systematic review was reported according to the PRISMA guidelines. The EBSCO, PubMed, EMBASE, and Lilacs databases were searched for full-text articles reporting the use of everolimus or sirolimus in the treatment of CRs in neonates and infants.
Thirty-one articles met inclusion criteria, totaling 48 patients. Hemodynamic instability prompted treatment in 89.5% of cases. Everolimus was used in 83.3% of cases and sirolimus in 16.6%. The median treatment duration was 67 days, with a 57 ± 23% average CR size reduction. Common adverse events included hypertriglyceridemia, infections, and hematological abnormalities.
mTOR inhibitors appear effective and safe for treating CRs in neonates and infants. The average daily doses were 1.03 mg/m²/day for everolimus and 1.37 mg/m²/day for sirolimus. Randomized controlled clinical trials are necessary to confirm these findings and establish optimal treatment protocols.
Currently, there are no results from randomized clinical trials evaluating the efficacy of mammalian target of rapamycin inhibitors in patients with symptomatic cardiac rhabdomyomas. This is the first systematic review that evaluates the efficacy and safety of the use of everolimus and sirolimus in the non-surgical treatment of cardiac rhabdomyomas with hemodynamic repercussions in neonates. Everolimus and sirolimus may be particularly useful in the neonatal period when the hemodynamic complications caused by cardiac rhabdomyomas are more severe.
心脏横纹肌瘤（CR）是小儿时期诊断出的主要心脏肿瘤，通常与结节性硬化症相关。在一些患者中，这些肿块可导致心力衰竭和难以控制的心律失常。有多项关于使用雷帕霉素哺乳动物靶点（mTOR）抑制剂依维莫司或西罗莫司治疗CR的病例报告。我们回顾了当前关于依维莫司和西罗莫司治疗有血流动力学影响的新生儿CR有效性的数据。
本系统评价按照PRISMA指南报告。检索了EBSCO、PubMed、EMBASE和Lilacs数据库，以查找报告使用依维莫司或西罗莫司治疗新生儿和婴儿CR的全文文章。
31篇文章符合纳入标准，共48例患者。89.5%的病例因血流动力学不稳定而接受治疗。83.3%的病例使用依维莫司，16.6%使用西罗莫司。中位治疗持续时间为67天，CR平均缩小57±23%。常见不良事件包括高甘油三酯血症、感染和血液学异常。
mTOR抑制剂对治疗新生儿和婴儿的CR似乎有效且安全。依维莫司的平均日剂量为1.03mg/m²/天，西罗莫司为1.37mg/m²/天。需要进行随机对照临床试验来证实这些发现并建立最佳治疗方案。
目前，尚无随机临床试验评估雷帕霉素哺乳动物靶点抑制剂对有症状心脏横纹肌瘤患者疗效的结果。这是第一项系统评价，评估了依维莫司和西罗莫司在非手术治疗有血流动力学影响的新生儿心脏横纹肌瘤中的疗效和安全性。当心脏横纹肌瘤引起的血流动力学并发症更严重时，依维莫司和西罗莫司在新生儿期可能特别有用。
