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Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

Part of: Surgery

Published online by Cambridge University Press:  19 February 2021

Hamood N. Al Kindi
Aswan Heart Center, Aswan, Egypt Department of Cardiothoracic Surgery, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman
Ayman M. Ibrahim
Aswan Heart Center, Aswan, Egypt Department of Zoology, Faculty of Science, Cairo University, Giza, Egypt
Mohamed Roshdy
Aswan Heart Center, Aswan, Egypt
Besra S. Abdelghany
Aswan Heart Center, Aswan, Egypt
Dina Yehia
Aswan Heart Center, Aswan, Egypt
Ahmed Nageeb Masoud
Aswan Heart Center, Aswan, Egypt
Walid Simry
Aswan Heart Center, Aswan, Egypt
Yasmine Aguib
Aswan Heart Center, Aswan, Egypt National Heart and Lung Institute, Imperial College London, London, UK
Magdi H. Yacoub*
Aswan Heart Center, Aswan, Egypt National Heart and Lung Institute, Imperial College London, London, UK Heart Science Centre, Harefield Hospital, London, UK
Author for correspondence: Prof Magdi Yacoub FRS, Heart Science Centre, National Heart and Lung Institute, Imperial College London, London, UK. Tel: +44 (0)1895 828 893. E-mail:



Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour.


All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling.


Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue.


All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

Original Article
© The Author(s), 2021. Published by Cambridge University Press

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