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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: Echocardiography Tetralogy of Fallot (TOF) Advanced Imaging

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: Sharon.brosilow@gmail.com
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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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