Fetal therapy with mTOR inhibitors in cardiac rhabdomyoma and lymphatic malformations
Bibliographic record
Abstract
Fetal therapy has advanced with novel pharmacological approaches to address congenital tumors and malformations, including cardiac rhabdomyomas and lymphatic malformations (LMs). Cardiac rhabdomyomas, often associated with tuberous sclerosis complex (TSC), can lead to significant morbidity due to arrhythmias, left or right ventricular outflow tract obstruction and heart failure, particularly in neonates. LMs, resulting from abnormal development of the lymphatic system, can cause considerable morbidity, including airway obstruction, disfigurement, recurrent infections, bleeding into cysts, and impaired function of affected organs, depending on location. Recent therapies involving mammalian target rapamycin (mTOR) inhibitors, such as everolimus and sirolimus, offer promising interventions for these conditions. As mTOR inhibitors target dysregulated cell growth and angiogenesis, they can effectively reduce the size of both cardiac rhabdomyomas and LMs in-utero . Clinical studies in the pediatric population have shown that mTOR inhibitors promote regression of cardiac rhabdomyomas, leading to improved cardiac function, and similarly reduce the size of lymphatic malformations, thereby decreasing the need for surgical or interventional procedures. Sirolimus has also shown efficacy in treating complex LMs and is increasingly being used as a first line agent alone as well as in conjunction with other treatment modalities like surgery and sclerotherapy. Despite potential side effects, including gastrointestinal discomfort and an increased risk of infection, the risk–benefit ratio should be carefully evaluated on an individual patient basis. This review examines current evidence supporting the use of mTOR inhibitors in fetal therapy, highlighting their ability to mitigate postnatal complications and improve long-term outcomes. Further research is needed to optimize dosing protocols and assess the long-term safety of these therapies in the fetal population. • mTOR inhibitors (sirolimus/everolimus) are emerging as promising non-invasive fetal therapies for cardiac rhabdomyomas and lymphatic malformations, especially when surgery is not feasible. • Transplacental administration of sirolimus has demonstrated tumor size reduction and symptom relief in fetuses with severe disease, supporting its use as a prenatal medical intervention. • Safety data are encouraging but limited—adverse effects like immunosuppression, leukopenia, and hyperlipidemia must be closely monitored in both mother and fetus.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".