Department of Pediatric Cardiology, Van Yuzuncu Yil Universitiy, Van, Turkey.
Department of Pediatrics, Van Yuzuncu Yil Universitiy, Van, Turkey.
Cardiol Young. 2021 Aug;31(8):1359-1362. doi: 10.1017/S1047951121000639. Epub 2021 Mar 4.
Tuberous sclerosis complex is a rare multisystem genetic disorder characterised by the growth of numerous tumour-like malformations in many parts of the body including skin, kidneys, brain, lung, eyes, liver, and heart. Mutations in the TSC1 or TSC2 genes have been reported to cause disruption in the TSC1-TSC2 intracellular protein complex, causing over-activation of the mammalian target of rapamycin protein complex. In this study, we present a 3-month-old male infant diagnosed with tuberous sclerosis, bilateral neurosensorial hearing loss, Wolff-Parkinson-White syndrome on electrocardiography, multiple cardiac rhabdomyomas with severe stenosis in the left ventricular outflow tract, who responded well to the Everolimus therapy.
结节性硬化症是一种罕见的多系统遗传性疾病，其特征是在身体的许多部位（包括皮肤、肾脏、大脑、肺、眼睛、肝脏和心脏）生长出许多类似肿瘤的畸形。已有研究报道 TSC1 或 TSC2 基因突变会导致 TSC1-TSC2 细胞内蛋白复合物功能紊乱，从而引起哺乳动物雷帕霉素靶蛋白复合物过度激活。本研究报告了一例 3 月龄男性婴儿，诊断为结节性硬化症，双侧神经感觉性听力损失，心电图显示 Wolff-Parkinson-White 综合征，左心室流出道有多个心肌脂肪瘤伴严重狭窄，对依维莫司治疗反应良好。
