Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas

Area of Science:

• Pediatric Cardiology
• Oncology
• Genetics

Background:

• Intracardiac rhabdomyoma is the most frequent primary cardiac tumor in children, frequently associated with tuberous sclerosis complex (TSC).
• While often asymptomatic, some neonates develop life-threatening cardiovascular symptoms, including arrhythmias and outflow tract obstruction, with limited treatment options.
• Surgical resection is often not feasible, and medical management strategies are restricted.

Observation:

• Two neonates with malignant arrhythmias due to multiple, non-surgical intracardiac rhabdomyomas associated with TSC were treated.
• The patients received therapy with a mammalian target of rapamycin (mTOR) inhibitor, specifically everolimus.

Findings:

• Everolimus therapy resulted in significant regression of the cardiac rhabdomyomas.
• Rapid clinical improvement was observed, including resolution of arrhythmias and heart failure, even before substantial tumor shrinkage.

Implications:

• mTOR inhibitors represent a viable and effective therapeutic option for pediatric intracardiac rhabdomyomas associated with TSC, particularly when tumors are unresectable.
• This approach offers a promising alternative to manage severe cardiovascular complications and improve outcomes in affected neonates.
• Further research into mTOR inhibitor efficacy and long-term outcomes for cardiac tumors in TSC is warranted.