• J. Trop. Pediatr. · Feb 2015

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

    • Vehbi Doğan, Şule Yeşil, Şeyma Kayalı, Serdar Beken, Senem Özgür, İlker Ertuğrul, Ceyhun Bozkurt, Utku Arman Örün, and Selmin Karademir.
    • Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey vdogan86@yahoo.com.
    • J. Trop. Pediatr. 2015 Feb 1; 61 (1): 74-7.

    UnlabelledCardiac 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).ConclusionAs 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.© The Author [2014]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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