Vehbi Doğan1, Şule Yeşil2, Şeyma Kayalı3, Serdar Beken4, Senem Özgür3, İlker Ertuğrul3, Ceyhun Bozkurt2, Utku Arman Örün3, Selmin Karademir3. 1. Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey vdogan86@yahoo.com. 2. Department of Pediatric Oncology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey. 3. Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey. 4. Department of Neonatalogy, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
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.
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: C Gecmen; G G Gecmen; M Kahyaoglu; B Omar; S Izci; A Kalayci; C Y Karabay; S Coban; O Candan; E Yanik; I A Izgi; N O Barisik Journal: Herz Date: 2016-12-01 Impact factor: 1.443
Authors: Afshin Saffari; Ines Brösse; Adelheid Wiemer-Kruel; Bernd Wilken; Paula Kreuzaler; Andreas Hahn; Matthias K Bernhard; Cornelis M van Tilburg; Georg F Hoffmann; Matthias Gorenflo; Sven Hethey; Olaf Kaiser; Stefan Kölker; Robert Wagner; Olaf Witt; Andreas Merkenschlager; Andreas Möckel; Timo Roser; Jan-Ulrich Schlump; Antje Serfling; Juliane Spiegler; Till Milde; Andreas Ziegler; Steffen Syrbe Journal: Orphanet J Rare Dis Date: 2019-05-03 Impact factor: 4.123