Hurtado-Sierra Daniel, Ramos Garzón Judy Ximena, Rojas Lyda Z, Fernández-Gómez Oscar, Manrique-Rincón Francisco
Pediatric Cardiology Unit, Instituto del Corazón de Bucaramanga, Bucaramanga, Colombia.
Nursing School, Universidad Industrial de Santander, Bucaramanga, Colombia.
Front Pediatr. 2023 Feb 15;11:1109646. doi: 10.3389/fped.2023.1109646. eCollection 2023.
Cardiac rhabdomyoma (CRHM) is the principal cardiac tumor in children and is most often associated with tuberous sclerosis complex (TSC). Mutations in the and genes cause the overactivation of the mammalian Target of Rapamycin (mTOR). This protein family is responsible for abnormal cell proliferation leading to the formation of CRHMs and hamartomas in other organs. Despite the tendency for spontaneous regression, some CRHMs can cause heart failure and intractable arrhythmias, requiring surgical resection. In recent years, the use of everolimus and sirolimus (mTOR inhibitors) in the treatment of CRHMs has been reported. We report two cases of neonates with giant rhabdomyomas, with hemodynamic repercussions treated with low-dose everolimus (4.5 mg/m/week). In both cases, we obtained an approximate decrease of 50% in the total area of the mass after three weeks of treatment. Despite rebound growth after stopping the drug, we were able to evidence that the use of low doses of everolimus immediately after birth is effective and safe in the treatment of giant CRHMs, avoiding surgical resection of the tumor and associated morbidity and mortality.
心脏横纹肌瘤（CRHM）是儿童最主要的心脏肿瘤，且最常与结节性硬化症（TSC）相关。 和 基因的突变导致雷帕霉素哺乳动物靶点（mTOR）过度激活。该蛋白家族导致细胞异常增殖，进而在其他器官形成CRHM和错构瘤。尽管有自发消退的倾向，但一些CRHM可导致心力衰竭和顽固性心律失常，需要手术切除。近年来，已有报道使用依维莫司和西罗莫司（mTOR抑制剂）治疗CRHM。我们报告两例患有巨大横纹肌瘤的新生儿，其血流动力学受到影响，采用低剂量依维莫司（4.5 mg/m/周）治疗。在两例病例中，治疗三周后肿块总面积均出现了约50%的减小。尽管停药后出现了反弹生长，但我们能够证明，出生后立即使用低剂量依维莫司治疗巨大CRHM是有效且安全的，可避免肿瘤的手术切除及相关的发病率和死亡率。
