Mlczoch E, Hanslik A, Luckner D, Kitzmüller E, Prayer D, Michel-Behnke I
Pediatric Heart Center, Department of Pediatrics and Adolescent Medicine, Division for Pediatric Cardiology, Medical University of Vienna, Vienna, Austria.
Ultrasound Obstet Gynecol. 2015 May;45(5):618-21. doi: 10.1002/uog.13434.
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by abnormal cell proliferation and tumor growth in a number of organ systems, primarily the brain, kidneys, eyes and heart. Clinical symptoms vary according to the location of the tumor. The most common disorders are seizures, neurodevelopmental disorders, renal failure and arrhythmias. TSC was found to be influenced by inhibitors of the protein kinase mammalian target of rapamycin (mTOR), which regulates abnormal cellular proliferation. mTOR inhibitors have been studied effectively in patients with subependymal giant-cell astrocytomas and renal angiolipomas in the context of TSC. We describe a prenatally diagnosed case of giant rhabdomyoma, due to right ventricular outflow tract obstruction, which presented as a duct-dependent lesion. Postnatal treatment with the mTOR inhibitor everolimus initiated significant regression of the cardiac tumor. This finding suggests that mTOR inhibitor therapy is an option for giant rhabdomyomas that develop in the neonatal period.
结节性硬化症（TSC）是一种遗传性疾病，其特征是多个器官系统出现异常细胞增殖和肿瘤生长，主要累及大脑、肾脏、眼睛和心脏。临床症状因肿瘤位置而异。最常见的病症是癫痫发作、神经发育障碍、肾衰竭和心律失常。研究发现，TSC受雷帕霉素哺乳动物靶点（mTOR）蛋白激酶抑制剂的影响，该蛋白激酶调节异常细胞增殖。在TSC背景下，mTOR抑制剂已在室管膜下巨细胞星形细胞瘤和肾血管平滑肌脂肪瘤患者中得到有效研究。我们描述了一例产前诊断为巨大横纹肌瘤的病例，该肿瘤因右心室流出道梗阻而表现为导管依赖性病变。出生后使用mTOR抑制剂依维莫司治疗使心脏肿瘤显著缩小。这一发现表明，mTOR抑制剂疗法是治疗新生儿期发生的巨大横纹肌瘤的一种选择。
