Universidad Industrial de Santander, Bucaramanga, Colombia.
Fundación Cardiovascular de Colombia, Floridablanca, Colombia.
Am J Med Genet A. 2021 May;185(5):1525-1531. doi: 10.1002/ajmg.a.62120. Epub 2021 Feb 16.
Intracardiac rhabdomyoma is the most common primary cardiac tumor in children. Most cases are associated with tuberous sclerosis complex (TSC). Most of them are asymptomatic in the neonate and do not require treatment. However, some develop cardiovascular symptoms such as arrhythmias, heart failure, and ventricular inflow/outflow tract obstruction in the neonatal period with early death. Many of these tumors are not candidates for surgical resection and medical management is limited. Treatment with mammalian target of rapamycin (mTOR) inhibitor is currently approved for the management of central nervous tumors and angiomyolipoma in TSC. Two patients with malignant arrhythmias related to nonsurgical multiple rhabdomyomas associated with TSC who were successfully treated with an mTOR inhibitor were described. Everolimus therapy showed significant regression of rhabdomyomas with rapid improvement of arrhythmias and heart failure prior to tumor shrinkage.
心脏横纹肌瘤是儿童最常见的原发性心脏肿瘤。大多数病例与结节性硬化症复合征（TSC）相关。大多数新生儿无症状，不需要治疗。然而，一些在新生儿期出现心血管症状，如心律失常、心力衰竭和心室流入/流出道阻塞，导致早期死亡。许多肿瘤不适宜手术切除，药物治疗也有限。雷帕霉素（mTOR）抑制剂的治疗目前被批准用于 TSC 中枢神经系统肿瘤和血管平滑肌脂肪瘤的治疗。本文描述了 2 例因 TSC 相关的非手术多发横纹肌瘤引起恶性心律失常的患者，他们成功地接受了 mTOR 抑制剂治疗。依维莫司治疗显示横纹肌瘤明显消退，心律失常和心力衰竭迅速改善，在肿瘤缩小之前。
