Rodríguez-Torres David Asael, Arenas-Estala Joel, Sánchez-Cortés Ramón Gerardo, Dávila-Escamilla Iván Vladimir, Nieto-Sanjuanero Adriana, López-Uriarte Graciela Arelí
Department of Genetics, Facultad de Medicina, Hospital Universitario, Universidad Autónoma de Nuevo León (UANL), Monterrey 64440, Mexico.
Department of Cardiology, Facultad de Medicina, Hospital Universitario, Universidad Autónoma de Nuevo León (UANL), Monterrey 64440, Mexico.
Diagnostics (Basel). 2025 Jul 18;15(14):1811. doi: 10.3390/diagnostics15141811.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2. Cardiac rhabdomyoma is a common prenatal finding and can be associated with severe complications, including pericardial effusion. We administered prenatal sirolimus to mitigate pericardial effusion, which led to postnatal complications. A 28-year-old pregnant woman with no significant family history underwent routine fetal ultrasound at 28.1 weeks of gestation, which identified a large right ventricular mass consistent with rhabdomyoma. Further fetal brain MRI revealed cortical-subcortical tubers and subependymal nodules, leading to a clinical diagnosis of TSC. At 30.4 weeks, oral sirolimus (3 mg/day) was started due to the significant pericardial effusion. The effusion remained after treatment, requiring pericardiocentesis at 33.6 weeks. The sirolimus dosage was raised to 6 mg/day at 35.6 weeks, reaching a plasma level of 3.76 ng/mL, but there was no discernible improvement because of the continued fluid accumulation. The mother did not experience any adverse side effects from the procedure. Genetic testing confirmed a pathogenic variant in TSC2 (c.1372C>T). After birth, the neonate received a single dose of sirolimus but subsequently developed necrotizing enterocolitis (NEC), highlighting the potential adverse effects and the need for cautious consideration of treatment options. This case illustrates the complexities of managing prenatal tuberous sclerosis complex (TSC). While sirolimus has been explored for fetal cardiac rhabdomyoma and associated complications, its effectiveness in resolving pericardial effusion remains uncertain. Additionally, the development of NEC postnatally raises concerns about the safety of mTOR inhibitors in this context. Further studies are necessary to assess the risks and benefits of this approach in fetal therapy.
结节性硬化症（TSC）是一种常染色体显性疾病，由TSC1或TSC2的致病性变异引起。心脏横纹肌瘤是常见的产前发现，可伴有严重并发症，包括心包积液。我们给予产前西罗莫司以减轻心包积液，但这导致了产后并发症。一名28岁、无显著家族史的孕妇在妊娠28.1周时接受常规胎儿超声检查，发现一个与横纹肌瘤相符的巨大右心室肿块。进一步的胎儿脑部MRI显示皮质-皮质下结节和室管膜下结节，从而临床诊断为TSC。在30.4周时，由于心包积液明显，开始口服西罗莫司（3毫克/天）。治疗后积液仍存在，在33.6周时需要进行心包穿刺。在35.6周时，西罗莫司剂量增至6毫克/天，血浆水平达到3.76纳克/毫升，但由于液体持续积聚，未见明显改善。母亲未因该治疗出现任何不良副作用。基因检测证实TSC2存在致病性变异（c.1372C>T）。出生后，新生儿接受了单剂量西罗莫司治疗，但随后发生坏死性小肠结肠炎（NEC），突出了潜在的不良反应以及谨慎考虑治疗方案的必要性。 该病例说明了管理产前结节性硬化症（TSC）的复杂性。虽然已对西罗莫司用于胎儿心脏横纹肌瘤及相关并发症进行了探索，但其解决心包积液的有效性仍不确定。此外，产后NEC的发生引发了对这种情况下mTOR抑制剂安全性的担忧。有必要进行进一步研究以评估这种方法在胎儿治疗中的风险和益处。
