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

Abstract

UNLABELLED:

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.

• Authors: Vehbi Doğan, Şule Yeşil, Şeyma Kayalı, Serdar Beken, Senem Özgür, İlker Ertuğrul, Ceyhun Bozkurt, Utku Arman Örün, Selmin Karademir
• Journal: Journal of tropical pediatrics (J Trop Pediatr) Vol. 61 Issue 1 Pg. 74-7 (Feb 2015) ISSN: 1465-3664 [Electronic] England
• PMID: 25344617 (Publication Type: Journal Article)
• Copyright: © The Author [2014]. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected].

Chemical References

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

Topics

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