I would like to call your attention to a Case Repot that is a direct follow-up to a Case Report published last year in Pediatrics. The 2011 report cited a case of a patient with Tuberous Sclerosis (TS) and cardiac rhabdomyoma that had failed to regress and persisted well into childhood. This patient had serendipitous regression of the cardiac tumor when treated with the MTOR (mammalian target of rapamycin) inhibitor everolimus. The patient had been treated with everolimus as a subject in a treatment study protocol for a subependymal giant cell astrocytoma (SEGA) from which he also suffered.
Now, Demir et al. (doi: 10.1542/peds.2011-3476) report from Turkey the successful use of the same drug in non-operative treatment of multifocal cardiac rhabdomyomatas with hemodynamic significance in an infant. Since most rhabdomyomas spontaneously regress after early infancy, those tumors that do not hamper hemodynamics are best managed expectantly. However, when left ventricular outflow is impaired, these tumors can cause sudden death. The current approach with operative intervention is risky at best but often not possible at worst. In addition to the report itself, Demir provides a dosing protocol for treatment of the infant.
