Cardiac rhabdomyomas are the most common benign pediatric heart tumor in infancy, which are commonly associated with tuberous sclerosis complex (TSC). Most rhabdomyomas are asymptomatic and spontaneously regress over time. However, some cases especially in neonates or small infants can present with hemodynamic instability. Surgical resection of the tumor, which has been the gold standard in alleviating obstruction, is not always possible and may be associated with significant morbidity and mortality. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be safe and effective in the treatment of TSC. We present the outcomes of neonates and an infant who received treatment for symptomatic rhabdomyomas at a tertiary cardiology center. Medical records were reviewed to obtain clinical, demographic, and outcome data. Six patients received interventions for symptomatic rhabdomyomas, median age at presentation was 1 day old (range from 1 to 121 days old), and 67% of the patients had a pathogenic mutation in TSC gene. One patient underwent surgical resection of solitary tumor at right ventricular outflow tract (RVOT) successfully. In the four patients with left ventricular outflow tract (LVOT) obstruction, two patients received combined therapy of surgical debulking of LVOT tumor, Stage I palliation procedure, and mTORi and two patients received mTORi therapy. One patient with RVOT obstruction underwent ductal stenting and received synergistic mTORi. Four of the five patients had good response to mTORi demonstrated by the rapid regression of rhabdomyoma size. 83% of patients are still alive at their latest follow-up, at two to eight years of age. One patient died on day 17 post-LVOT tumor resection and Hybrid stage one due to failure of hemostasis, in the background of familial factor VII deficiency. Treatment of symptomatic rhabdomyoma requires individualized treatment strategy based on the underlying pathophysiology, with involvement of multidisciplinary teams. mTORi is effective and safe in inducing rapid regression of rhabdomyomas. A standardized mTORi prescription and monitoring guide will ensure medication safety in neonates and infants with symptomatic cardiac rhabdomyoma. Although the majority of tumors responded to mTORi, some prove to be resistant. Further studies are warranted, ideally involving multiple international centers with a larger number of patients.

心脏横纹肌瘤是婴儿期最常见的良性儿童心脏肿瘤，通常与结节性硬化症（TSC）相关。大多数横纹肌瘤是无症状的，并且会随着时间的推移自行消退。然而，某些病例，尤其是新生儿或小婴儿，可能会出现血流动力学不稳定。肿瘤手术切除一直是缓解梗阻的金标准，但并不总是可行，并且可能与显着的发病率和死亡率相关。最近，哺乳动物雷帕霉素靶点抑制剂（mTORi）已被证明在治疗 TSC 方面是安全有效的。我们介绍了在三级心脏病中心接受症状性横纹肌瘤治疗的新生儿和婴儿的结果。审查医疗记录以获得临床、人口统计和结果数据。6 名患者接受了有症状的横纹肌瘤干预，就诊时的中位年龄为 1 天（范围为 1 至 121 天），67% 的患者存在 TSC 基因致病性突变。一名患者成功接受了右心室流出道（RVOT）孤立性肿瘤的手术切除。在 4 名左心室流出道 (LVOT) 梗阻患者中，2 名患者接受 LVOT 肿瘤减灭手术、I 期姑息手术和 mTORi 联合治疗，2 名患者接受 mTORi 治疗。一名 RVOT 梗阻患者接受了导管支架置入术并接受了协同 mTORi。五名患者中的四名对 mTORi 具有良好的反应，横纹肌瘤大小的快速消退证明了这一点。83% 的患者在最近一次随访时仍存活，年龄为 2 至 8 岁。一名患者在 LVOT 肿瘤切除和 Hybrid 一期后第 17 天因家族性 VII 因子缺乏症的止血失败而死亡。有症状的横纹肌瘤的治疗需要基于潜在病理生理学的个体化治疗策略，并需要多学科团队的参与。mTORi 可有效且安全地诱导横纹肌瘤快速消退。标准化的 mTORi 处方和监测指南将确保患有症状性心脏横纹肌瘤的新生儿和婴儿的用药安全。尽管大多数肿瘤对 mTORi 有反应，但有些肿瘤被证明具有耐药性。有必要进行进一步的研究，最好是涉及拥有大量患者的多个国际中心。