Cardiac rhabdomyomas (CRHM) are the most common primary cardiac tumors in neonates and are closely linked to tuberous sclerosis complex (TSC). While many tumors regress spontaneously, large or strategically located lesions may require intervention. Everolimus, an mTOR inhibitor, has shown efficacy in managing TSC-associated tumors, though its use in neonatal CRHM remains largely supported by case reports. We report a term male neonate diagnosed with multiple CRHMs and found to have a heterozygous variant of uncertain significance in the TSC2 gene. The tumor size and location led to early initiation of oral everolimus at 0.06 mg/kg twice daily. Therapeutic drug monitoring revealed supratherapeutic levels during the first week, requiring stepwise dose reduction. Over five weeks of treatment, serial echocardiograms demonstrated marked regression of all tumor masses without adverse effects. A clinical pharmacist supervised the extemporaneous preparation, dose adjustment, and caregiver education to ensure treatment accuracy and safety. This case highlights the role of early, closely monitored everolimus therapy as a safe, non-surgical alternative for managing neonatal CRHM. To our knowledge, this is the first reported case from Saudi Arabia describing early everolimus treatment for neonatal CRHM and highlighting the critical role of the clinical pharmacist in individualized dosing, therapeutic monitoring, and caregiver education.
Alsharhan et al. (Wed,) studied this question.