Fetal cardiac rhabdomyomas susceptible to prenatal treatment with mTOR inhibitors: literature review and proposal of a prenatal management algorithm.

ABSTRACT: Certain types of fetal cardiac rhabdomyomas can lead to severe complications, including intrauterine death, yet no specific criteria have been established for the prenatal use of pharmacological therapies to mitigate the impact of rhabdomyomas. We conducted a narrative review of case reports and case series published between January 1, 2000, and February 28, 2025, identified through PubMed, Scopus, Web of Science, and Google Scholar, describing the prenatal use of mammalian target of rapamycin inhibitors in this context. Thirteen studies reporting on 15 fetuses were included. Five fetuses (33.3%) had a single rhabdomyoma, and 10 (66.6%) had multiple lesions. Prenatal genetic testing for Tuberous Sclerosis Complex was performed in 9 cases (60%): 1 with a TSC1 mutation, 7 with TSC2 mutations

SUBMITTER: Martinez-Garcia A 

PROVIDER: S-EPMC12719440 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature