Gonçalves Maria Beatriz Siggia, Carvalho Mariana Azevedo, Favaro Gustavo Antonio Guimarães, Mihich Juliana Salem, Leite Juliana Pavan, Correia de Melo Aline Franciele, Camargo Fabricio Marcondes, de Queiroz Soares Diogo Cordeiro, Schmidt Arenholt Louise Thomsen, Leutscher Peter Christian, Bernardes Lisandra Stein
Fetal Medicine Center, SEPACO Hospital, São Paulo, Brazil.
Disciplina de Obstetricia, Departamento de Obstetricia e Ginecologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil.
Fetal Diagn Ther. 2025;52(4):420-428. doi: 10.1159/000542664. Epub 2025 Jan 22.
Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mammalian target of rapamycin inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas; however, there are only few cases described.
A 37-year-old woman at 29 weeks and 4 days of gestation had been diagnosed with fetal cardiac tumor, adhered adjacent to the left ventricle, associated with heart dysfunction and polyhydramnios. Therapy with oral sirolimus was started, and, once serum levels were achieved, cardiac tumor reduction was observed, with progressive resolution of cardiac dysfunction. However, maternal hypertriglyceridemia was developed as a side effect, a rarely discussed theme on previous articles, and was successfully controlled with dose reduction. The patient delivered a male infant at 38 weeks and 2 days of pregnancy with no need of any resuscitation maneuver.
Transplacental treatment with sirolimus is a promising therapeutic option to treat symptomatic fetal rhabdomyomas, but more data are demanded to determine its efficacy and safety during pregnancy. A close maternal follow-up concerning triglyceride levels is mandatory.
横纹肌瘤是胎儿期最常见的心脏肿瘤。它常与结节性硬化症相关，可能导致心力衰竭，这是一种潜在的致命疾病。使用经胎盘西罗莫司（一种雷帕霉素哺乳动物靶点抑制剂）已成为有症状胎儿横纹肌瘤的一种新型治疗方法；然而，仅有少数病例报道。
一名37岁女性，妊娠29周零4天时被诊断出胎儿心脏肿瘤，附着于左心室附近，伴有心脏功能障碍和羊水过多。开始口服西罗莫司治疗，达到血清水平后，观察到心脏肿瘤缩小，心脏功能障碍逐渐缓解。然而，出现了母体高甘油三酯血症这一副作用，这在以往文章中很少被讨论，通过减少剂量成功得到控制。患者在妊娠38周零2天时分娩一名男婴，无需任何复苏措施。
经胎盘使用西罗莫司治疗有症状胎儿横纹肌瘤是一种有前景的治疗选择，但需要更多数据来确定其在孕期的疗效和安全性。必须密切关注母体甘油三酯水平。
