Abstract
Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation. This expands the possibilities of prenatal medical treatment in TSC.
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Ritter, D. M., Schneider, K., Ezeakudo, N., Krueger, D. A., Mizuno, T., Knilans, T. K., & Franz, D. N. (2025). Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma-Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex. American Journal of Medical Genetics, Part A, 197(11). https://doi.org/10.1002/ajmg.a.64175
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