Paediatric Cardiology and Congenital Heart Disease in Adults, The Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa3109601, Israel.
Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Cardiol Young. 2021 Feb;31(2):312-314. doi: 10.1017/S1047951120003819. Epub 2020 Nov 5.
Mammalian target of rapamycin inhibitors was found recently to be an effective treatment for manifestations of Tuberous sclerosis complex, including cardiac rhabdomyomas. Most cases with Cardiac rhabdomyoma treated with mammalian target of rapamycin inhibitors to date were diagnosed with Tuberous sclerosis. We report a case of cardiac rhabdomyoma and severe right ventricular outflow obstruction in a baby with negative genetics for Tuberous sclerosis that responded rapidly to Sirolimus.
最近发现哺乳动物雷帕霉素靶蛋白抑制剂对结节性硬化症的表现，包括心脏横纹肌瘤，是一种有效的治疗方法。迄今为止，用哺乳动物雷帕霉素靶蛋白抑制剂治疗的大多数心脏横纹肌瘤病例均被诊断为结节性硬化症。我们报告了一例心脏横纹肌瘤和严重的右心室流出道梗阻的婴儿，其结节性硬化症的遗传学检测为阴性，对西罗莫司反应迅速。
