scholarly journals VP20.09: Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis

2021 ◽  
Vol 58 (S1) ◽  
pp. 181-181
Author(s):  
M. Zamora Lapiedra ◽  
G. Molina i Olivella ◽  
C.L. Heredia ◽  
S. Pina ◽  
J. Costa Pueyo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma

scholarly journals Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience

2017 ◽  
Vol 5 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Hana Bejiqi
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Fetal Echocardiography ◽  
Tumour Size ◽  
Primary Tumour ◽  
Postnatal Period ◽  
Single Centre ◽  
Cardiac Rhabdomyoma ◽  
Ultrasound Evaluation

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

scholarly journals Fetal cardiac rhabdomyoma as sonographic sign of tuberous sclerosis complex - a diagnosis not to be missed.

2021 ◽  
Author(s):  
Dan Boitor Borza ◽  
Roxana Popa Stanila ◽  
Gabriela Zaharie ◽  
Monica Hasmasanu ◽  
Daniel Muresan
Keyword(s):  
Prenatal Diagnosis ◽  
Key Words ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurological Outcome ◽  
Careful Consideration ◽  
Cardiac Rhabdomyoma ◽  
Poor Neurological Outcome ◽  
Sonographic Sign

Fetal cardiac rhabdomyoma should trigger the awareness of potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI. We emphasize that careful consideration of all prenatal facilities is needed to confirm the diagnosis of tuberous sclerosis complex as early as possible during pregnancy. Key words: cardiac rhabdomyoma; tuberous sclerosis; prenatal diagnosis

Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound

1986 ◽  
Vol 6 (4) ◽  
pp. 283-289 ◽  
Author(s):  
H. Journel ◽  
M. Roussey ◽  
M. H. Plais ◽  
J. Milon ◽  
C. Almange ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma

Prenatal diagnosis and outcomes of fetal cardiac rhabdomyomas: evaluation of seven cases

2015 ◽  
Vol 4 (2) ◽  
Author(s):  
Emine Aydin ◽  
Mert Turgal ◽  
Esra Nuhoglu ◽  
Ozgur Ozyuncu
Keyword(s):  
Risk Factors ◽  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Case Series ◽  
Hydrops Fetalis ◽  
Retrospective Evaluation ◽  
Cardiac Rhabdomyoma ◽  
Factors Affecting ◽  
Multiple Tumors ◽  
Single Tumor

AbstractIn this case series, we aimed to determine the outcome of prenatally diagnosed fetal cardiac rhabdomyoma. This case series is a retrospective evaluation of seven cases of fetal cardiac rhabdomyoma determined during pregnancy. Only one of these cases has been associated with tuberous sclerosis (TS). Two of the cases had just a single tumor, whereas the others were found to have multiple tumors. Termination was performed to one fetus due to hydrops fetalis. The presence of risk factors of TS in a family and multifocal or large tumors, appears to be the most important factors affecting neonatal outcomes.

Evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma

2002 ◽  
Vol 22 (11) ◽  
pp. 1044-1047 ◽  
Author(s):  
Ronni Gamzu ◽  
Reuven Achiron ◽  
Julius Hegesh ◽  
Ehud Weiner ◽  
Ron Tepper ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma

scholarly journals Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report

2018 ◽  
Vol 19 ◽  
pp. e00070 ◽  
Author(s):  
Emre Ekmekci ◽  
Berfin Okmen Ozkan ◽  
Muhammet Serhat Yildiz ◽  
Betul Kocakaya
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma

scholarly journals Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus

2015 ◽  
Vol 45 (5) ◽  
pp. 618-621 ◽  
Author(s):  
E. Mlczoch ◽  
A. Hanslik ◽  
D. Luckner ◽  
E. Kitzmüller ◽  
D. Prayer ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Therapeutic Option ◽  
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.

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