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Fetal Tuberous Sclerosis: Sirolimus for the Treatment of Fetal rhabdomyoma.
Fetal Pediatr Pathol
October 2022
Pediatric Cardiology Unit, Department of Pediatrics, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Background: Sirolimus constitutes a safe and effective treatment for cardiac manifestations of tuberous sclerosis complex (TSC) in children but only four cases describing prenatal treatment of rhabdomyomas with mTOR inhibitors have been published.
Case: In this case, sirolimus was initiated at 26 weeks´ gestation in a pregnant woman with TSC with a fetus with a large rabdomyoma conditioning severe arrythmia. There was a significant reduction in the tumor size with ongoing treatment and a partial reversion of the arrythmia.
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