Very low-dose Everolimus therapy diminishes cardiac tumours in tuberous sclerosis complex disease

Area of Science:

• Cardiology
• Oncology
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs.
• Cardiac rhabdomyomas are a common manifestation of TSC, potentially causing significant blood flow obstruction.
• Current therapeutic options for TSC-associated cardiac tumors are limited.

Purpose of the Study:

• To report a case of successful Everolimus therapy for cardiac rhabdomyoma in Tuberous Sclerosis Complex.
• To highlight the efficacy of Everolimus even at previously undocumented low blood levels.
• To establish a proof-of-concept for intermittent Everolimus therapy in TSC.

Main Methods:

• A patient with Tuberous Sclerosis Complex and symptomatic cardiac rhabdomyoma was treated with Everolimus.
• Everolimus dosage was adjusted based on clinical response and blood levels.
• Treatment involved repeated cycles of stopping and restarting Everolimus due to clinical decisions.

Main Results:

• Significant regression of the cardiac rhabdomyoma was observed.
• Tumor regression occurred at a documented low Everolimus blood level of 2-3 ng/ml.
• Intermittent administration of Everolimus demonstrated therapeutic effectiveness.

Conclusions:

• Everolimus is effective in treating cardiac rhabdomyomas associated with Tuberous Sclerosis Complex.
• Therapeutic benefit can be achieved at very low Everolimus blood concentrations.
• On-demand or intermittent Everolimus therapy is a viable strategy for TSC management.