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Rapid response of a cardiac rhabdomyoma causing severe right ventricular outflow obstruction to Sirolimus in an infant with negative genetics for Tuberous sclerosis

Part of: Advanced Imaging Tetralogy of Fallot (TOF) Echocardiography

Published online by Cambridge University Press:  05 November 2020

Yifat Nir-David ,
Sharon Brosilow Open the ORCID record for Sharon Brosilow [Opens in a new window]  and
Asaad Khoury
Yifat Nir-David
Affiliation:
Paediatric Cardiology and Congenital Heart Disease in Adults, The Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa3109601, Israel Ruth and Bruce Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel
Sharon Brosilow*
Affiliation:
Paediatric Cardiology and Congenital Heart Disease in Adults, The Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa3109601, Israel Ruth and Bruce Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel
Asaad Khoury
Affiliation:
Paediatric Cardiology and Congenital Heart Disease in Adults, The Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa3109601, Israel Ruth and Bruce Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel
*
Author for correspondence: Dr S. Brosilow, Paediatric Cardiology and Congenital Heart Disease in Adults, Rambam Health Care Campus, PO box 387, Kibbutz Ramot Menashe, Haifa 1924500 Israel. Tel: +972-52-4589778; Fax: +972-47-774960. E-mail: [email protected]
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Abstract

Mammalian target of rapamycin inhibitors was found recently to be an effective treatment for manifestations of Tuberous sclerosis complex, including cardiac rhabdomyomas. Most cases with Cardiac rhabdomyoma treated with mammalian target of rapamycin inhibitors to date were diagnosed with Tuberous sclerosis. We report a case of cardiac rhabdomyoma and severe right ventricular outflow obstruction in a baby with negative genetics for Tuberous sclerosis that responded rapidly to Sirolimus.

Keywords

Cardiac rhabdomyomaSirolimusTuberous sclerosis
Type
Brief Report
Information
Cardiology in the Young , Volume 31 , Issue 2 , February 2021 , pp. 312 - 314
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Copyright
© The Author(s), 2020. Published by Cambridge University Press

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References

Beghetti, M, Gow, RM, Haney, I, Mawson, J, Williams, WG, Freedom, RM. Pediatric primary benign cardiac tumors: A 15-year review. Am Heart J 1997; 134: 1107–1114. doi: 10.1016/S0002-8703(97)70032-2 Google ScholarPubMed
Amonkar, GP, Kandalkar, BM, Balasubramanian, M. Cardiac rhabdomyoma. Cardiovasc Pathol 2009; 18: 313–314. doi: 10.1016/j.carpath.2008.02.002 CrossRefGoogle ScholarPubMed
Cleary, A, McMahon, CJ. Literature review of international mammalian target of rapamycin inhibitor use in the non-surgical management of haemodynamically significant cardiac rhabdomyomas. Cardiol Young. Published online June 11, 2020: 1–11. doi: 10.1017/S104795112000147X CrossRefGoogle Scholar
Dahdah, N. Everolimus for the treatment of tuberous sclerosis complex–related cardiac rhabdomyomas in pediatric patients. J Pediatr 2017; 190: 21–26.e7. doi: 10.1016/j.jpeds.2017.06.076 CrossRefGoogle ScholarPubMed
Franz, DN, Belousova, E, Sparagana, S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. The Lancet 2013; 381: 125–132. doi: 10.1016/S0140-6736(12)61134-9 CrossRefGoogle ScholarPubMed
Saffari, A, Brösse, I, Wiemer-Kruel, A, et al. Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study. Orphanet J Rare Dis 2019; 14: 96. doi: 10.1186/s13023-019-1077-6 CrossRefGoogle ScholarPubMed
Ninic, S, Kalaba, M, Jovicic, B, et al. Successful use of sirolimus for refractory atrial ectopic tachycardia in a child with cardiac rhabdomyoma. Ann Noninvasive Electrocardiol 2017; 22: e12435. doi: 10.1111/anec.12435 CrossRefGoogle Scholar
Kotulska, K, Larysz-Brysz, M, Grajkowska, W, et al. Cardiac Rhabdomyomas in Tuberous Sclerosis Complex Show Apoptosis Regulation and mTOR Pathway Abnormalities. Pediatr Dev Pathol 2009; 12: 89–95. doi: 10.2350/06-11-0191.1 CrossRefGoogle ScholarPubMed
Chang, J-S, Chiou, P-Y, Yao, S-H, Chou, I-C, Lin, C-Y. Regression of neonatal cardiac rhabdomyoma in two months through low-dose everolimus therapy: a report of three cases. Pediatr Cardiol 2017; 38: 1478–1484. doi: 10.1007/s00246-017-1688-4 CrossRefGoogle ScholarPubMed
Davis, KA, Dodeja, AK, Clark, A, et al. Use of cardiac MRI to assess antitumor efficacy of everolimus in sporadic cardiac rhabdomyoma. Pediatrics 2019; 143: e20182495. doi: 10.1542/peds.2018-2495 CrossRefGoogle ScholarPubMed