scholarly journals VP21.09: Postnatal oral sirolimus therapy in fetal cardiac rhabdomyoma

2021 ◽  
Vol 58 (S1) ◽  
pp. 185-185
Author(s):  
A. Rana ◽  
V. Dadhwal ◽  
A. Sharma ◽  
J. Relan ◽  
A. Saxena ◽  
...  
Keyword(s):  
Cardiac Rhabdomyoma

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

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: 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. Methods: 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. Results: 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. Conclusion: 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.

Ovine and porcine so-called cardiac rhabdomyoma (hamartoma)

1980 ◽  
Vol 90 (4) ◽  
pp. 551-558 ◽  
Author(s):  
R. Bradley ◽  
G.A.H. Wells ◽  
J.B.R. Arbuckle
Keyword(s):  
Cardiac Rhabdomyoma

Everolimus: A Challenging Drug in the Treatment of Multifocal Inoperable Cardiac Rhabdomyoma

PEDIATRICS ◽  
2012 ◽  
Vol 130 (1) ◽  
pp. e243-e247 ◽  
Author(s):  
H. A. Demir ◽  
F. Ekici ◽  
A. Yazal Erdem ◽  
S. Emir ◽  
B. Tunc
Keyword(s):  
Cardiac Rhabdomyoma

Cardiac Rhabdomyoma

2002 ◽  
Vol 126 (12) ◽  
pp. 1559-1559
Author(s):  
Xia Chen ◽  
Syed A. Hoda ◽  
Mark A. Edgar
Keyword(s):  
Cardiac Rhabdomyoma

Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy

2008 ◽  
Vol 278 (2) ◽  
pp. 169-170 ◽  
Author(s):  
Nupur Gupta ◽  
Neeta Singh ◽  
Shikha Sarangi ◽  
Saroj Dalmia ◽  
Suneeta Mittal
Keyword(s):  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma

PP-319 The Treatment of Cardiac Rhabdomyoma with Everolimus in a Neonate

2014 ◽  
Vol 113 (7) ◽  
pp. S136
Author(s):  
Ş. Kayalı ◽  
S. Özgür ◽  
T. Yoldaş ◽  
N. Fettah ◽  
U.A. Örün ◽  
...  
Keyword(s):  
Cardiac Rhabdomyoma

scholarly journals OP18.09: The association of prenatally diagnosed cardiac rhabdomyoma and tuberosclerosis complex: a dismal combination?

2015 ◽  
Vol 46 ◽  
pp. 108-108 ◽  
Author(s):  
T. Sarac Sivrikoz ◽  
R. Has ◽  
I.H. Kalelioglu ◽  
A. Corbacioglu Esmer ◽  
H. Kayserili ◽  
...  
Keyword(s):  
Cardiac Rhabdomyoma

scholarly journals Implantable cardioverter defibrillator as a bridge to recovery in an infant with cardiac rhabdomyoma

2008 ◽  
Vol 168 (7) ◽  
pp. 863-866 ◽  
Author(s):  
Priya Chockalingam ◽  
Sally-Ann B. Clur ◽  
Arthur A. M. Wilde ◽  
Irene Kuipers ◽  
Job van Woensel ◽  
...  
Keyword(s):  
Implantable Cardioverter Defibrillator ◽  
Bridge To Recovery ◽  
Cardiac Rhabdomyoma ◽  
Cardioverter Defibrillator
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