Will Joachim Carsten, Siedentopf Nina, Schmid Oliver, Gruber Teresa Mira, Henrich Wolfgang, Hertzberg Christoph, Weschke Bernhard
Department of Pediatric Cardiology, 13353 Berlin, Germany.
Department of Obstetrics, 13353 Berlin, Germany.
Pediatr Rep. 2023 Mar 22;15(1):245-253. doi: 10.3390/pediatric15010020.
Cardiac rhabdomyomas are a possible early manifestation of the Tuberous Sclerosis Complex (TSC). They often regress spontaneously but may grow and cause cardiac dysfunction, threatening the child's life. Treatment with rapalogs can stop the growth of these cardiac tumors and even make them shrink. Here, we present the case of a successful treatment of a cardiac rhabdomyoma in a fetus with TSC by administering sirolimus to the mother. The child's father carries a mutation and the family already had a child with TSC. After we confirmed the TSC diagnosis and growth of the tumor with impending heart failure, we started treatment at 27 weeks of gestation. Subsequently, the rhabdomyoma shrank and the ventricular function improved. The mother tolerated the treatment very well. Delivery was induced at 39 weeks and 1 day of gestation and proceeded without complications. The length, weight, and head circumference of the newborn were normal for the gestational age. Rapalog treatment was continued with everolimus. Metoprolol and vigabatrin were added because of ventricular preexcitation and epileptic discharges in the EEG, respectively. We provide the follow-up data on the child's development in her first two years of life and discuss the efficacy and safety of this treatment.
心脏横纹肌瘤是结节性硬化症（TSC）可能出现的早期表现。它们通常会自发消退，但也可能生长并导致心脏功能障碍，威胁儿童生命。使用雷帕霉素类似物治疗可以阻止这些心脏肿瘤的生长，甚至使其缩小。在此，我们报告一例通过给患有TSC的胎儿母亲使用西罗莫司成功治疗心脏横纹肌瘤的病例。孩子的父亲携带一种突变，且该家庭已有一个患有TSC的孩子。在我们确诊TSC并确认肿瘤生长且即将出现心力衰竭后，于妊娠27周开始治疗。随后，横纹肌瘤缩小，心室功能改善。母亲对治疗耐受性良好。在妊娠39周零1天引产，过程无并发症。新生儿的身长、体重和头围与孕周相符。继续使用依维莫司进行雷帕霉素类似物治疗。因心室预激分别加用美托洛尔，因脑电图出现癫痫放电加用vigabatrin。我们提供了该儿童出生后头两年的发育随访数据，并讨论了这种治疗方法的疗效和安全性。
