Regression of symptomatic multiple cardiac rhabdomyomas associated with tuberous sclerosis complex in a newborn receiving everolimus

J Trop Pediatr. 2015 Feb;61(1):74-7. doi: 10.1093/tropej/fmu056. Epub 2014 Oct 24.

Abstract

Cardiac rhabdomyoma is the most common primary cardiac tumor, is considered to be a hamartoma of developing cardiac myocytes. Cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) in 50-86% of cases. Mutations in TSC-1/TSC-2 genes result in increased mammalian target of rapamycin (mTOR) pathway activation responsible for the hamartomatous lesions of tuberous sclerosis complex. Therapy with mTOR inhibitors is currently under investigation as a treatment option for tumors associated with TSC. In this report we present a case with multiple symptomatic rhabdomyomas associated with tuberous sclerosis complex, deemed to be ineligible for surgical removal, treated with everolimus (mTOR inhibitor).

Conclusion: As we observed in our patient, in cases with inoperable symptomatic rhabdomyomas associated with TSC, everolimus, an mTOR inhibitor, may be the treatment of choice, which should be confirmed with additional studies.

Keywords: everolimus; newborn; rhabdomyoma; tuberous sclerosis complex.

MeSH terms

  • Drug Administration Schedule
  • Echocardiography
  • Everolimus
  • Heart Neoplasms / diagnosis
  • Heart Neoplasms / drug therapy*
  • Humans
  • Immunosuppressive Agents / administration & dosage*
  • Immunosuppressive Agents / therapeutic use
  • Infant, Newborn
  • Male
  • Rhabdomyoma / diagnosis
  • Rhabdomyoma / drug therapy*
  • Sirolimus / administration & dosage
  • Sirolimus / analogs & derivatives*
  • Sirolimus / therapeutic use
  • TOR Serine-Threonine Kinases / antagonists & inhibitors*
  • Treatment Outcome
  • Tuberous Sclerosis / drug therapy*
  • Tuberous Sclerosis / immunology

Substances

  • Immunosuppressive Agents
  • Everolimus
  • MTOR protein, human
  • TOR Serine-Threonine Kinases
  • Sirolimus