The Fetal Center at Riley Children's and Indiana University Health, Division of Maternal-Fetal Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Maternal Fetal Care Center, Division of Fetal Medicine and Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Prenat Diagn. 2024 Sep;44(10):1251-1267. doi: 10.1002/pd.6640. Epub 2024 Aug 20.
To investigate the characteristics and outcomes of fetal cardiac rhabdomyoma with or without prenatal use of mammalian target of rapamycin inhibitor (mTORi).
We systematically searched PubMed, Scopus, and Web of Science until June 2023.
Studies reporting on pregnancies with fetal cardiac rhabdomyoma were included.
A meta-analysis of proportions was conducted only on studies that included three or more cases.
A systematic review included 61 studies reporting on 400 fetuses with cardiac rhabdomyoma, of which 52 studies (389 fetuses) had expectant management and 9 studies (11 fetuses) were managed with mTORi. The meta-analysis included 26 studies reporting on 354 fetuses. Prenatally, 14% (95% CI 4-36) had pericardial effusion, 13% (95% CI 6-27) had arrhythmia, 16% (95% CI 7-31) had outflow tract obstruction, and 10% (95% CI 4-21) had hydrops. Fetal demise occurred in 12% (95% CI 5-30). Before delivery, tumor size reduction was noted in 13%, and after birth in 58%. Following birth, 8% (95% CI 3-14) had neonatal death and 9% (95% 4-17) required cardiac surgery. 60% (95% CI 41-79) of cases were diagnosed with tuberous sclerosis. Seizures were reported only in cases with a tuberous sclerosis diagnosis (41/71 infants). For the 9 studies reporting all together on 11 fetuses with tuberous sclerosis receiving prenatal mTORi, they showed improvement in the size of cardiac rhabdomyoma as well as outflow obstruction and none had fetal demise or neonatal death, and none required postnatal cardiac surgery.
We report on the natural history of prenatal cardiac rhabdomyoma, including characteristics, progression, and survival. We report 11 fetuses with tuberous sclerosis and cardiac rhabdomyoma receiving prenatal mTORi, showing promising results.
探讨有或无哺乳动物雷帕霉素靶蛋白抑制剂（mTORi）产前应用的胎儿心脏横纹肌瘤的特征和结局。
我们系统地检索了 PubMed、Scopus 和 Web of Science，检索截至 2023 年 6 月。
纳入了报告胎儿心脏横纹肌瘤妊娠的研究。
仅对纳入 3 例及以上病例的研究进行了比例的荟萃分析。
系统综述纳入了 61 项研究，共报道了 400 例心脏横纹肌瘤胎儿，其中 52 项研究（389 例胎儿）采用期待治疗，9 项研究（11 例胎儿）采用 mTORi 治疗。荟萃分析纳入了 26 项研究，共报道了 354 例胎儿。胎儿期，14%（95%CI 4-36）有心包积液，13%（95%CI 6-27）有心律失常，16%（95%CI 7-31）有流出道梗阻，10%（95%CI 4-21）有水肿。胎儿死亡发生率为 12%（95%CI 5-30）。分娩前，肿瘤大小缩小 13%，出生后缩小 58%。出生后，8%（95%CI 3-14）新生儿死亡，9%（95%CI 4-17）需要心脏手术。80%（95%CI 61-99）的病例诊断为结节性硬化症。只有在结节性硬化症诊断的病例中报告了癫痫发作（71 例婴儿中有 41 例）。9 项研究共报告了 11 例结节性硬化症胎儿接受产前 mTORi 治疗，结果显示心脏横纹肌瘤、流出道梗阻的大小均有改善，无一例胎儿死亡或新生儿死亡，无一例需要新生儿心脏手术。
我们报告了产前心脏横纹肌瘤的自然史，包括特征、进展和生存情况。我们报告了 11 例结节性硬化症合并心脏横纹肌瘤胎儿接受产前 mTORi 治疗，结果令人鼓舞。
