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

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

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.

OC110: Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated Tuberous Sclerosis Complex and cerebral lesions

2007 ◽  
Vol 30 (4) ◽  
pp. 401-401
Author(s):  
J. Saada ◽  
S. Hadj-Rabia ◽  
l. Fermont ◽  
J. Lebidois ◽  
J. Martinovic ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cerebral Lesions

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 A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Shunzhi He ◽  
Na Lv ◽  
Hongchu Bao ◽  
Xiong Wang ◽  
Jing Li
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Diagnosis ◽  
Missense Variant ◽  
Sporadic Case ◽  
Hereditary Disease ◽  
Multiple Organ ◽  
Cardiac Rhabdomyoma ◽  
Pathogenic Variants ◽  
Organ Systems

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused by pathogenic variants in the TSC1 or TSC2 gene. Case presentation We reported a sporadic case of a 32-year-old Han Chinese male diagnosed with TSC, whose spouse had a history of two spontaneous miscarriages and an induced abortion of a 30-week fetus identified with cardiac rhabdomyoma by ultrasound. A novel heterozygous missense variant in the TSC2 gene (Exon35:c.4511 T > C:p.L1504P) was identified in the male patient and the aborted fetus by next-generation sequencing, but not in his wife or both his parents. According to the ACMG/AMP criteria, this variant was classified as a “likely pathogenic” variant. Conclusion The novel TSC2:c.4511 T > C variant identified was highly likely associated with TSC and could potentially lead to adverse reproductive outcomes. IVF-ET and pre-implantation genetic diagnosis for TSC are recommended for this patient in the future to prevent fetal TSC.

scholarly journals Tuberous sclerosis with cardiac rhabdomyoma: a case report

2017 ◽  
Vol 4 (2) ◽  
pp. 666
Author(s):  
Sunita Arora ◽  
Harnoorjit Kaur Brar ◽  
Prabhjot Kaur Dhillon
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Female Child ◽  
The Body ◽  
Cardiac Rhabdomyoma ◽  
Cardiac Evaluation ◽  
Benign Tumours ◽  
High Index Of Suspicion

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder, caused by mutations on either of two genes TSC1 and TSC2. Clinical manifestations are caused by growth of benign tumours in different parts of the body. Ten months old female child with four major criteria of tuberous sclerosis complex and asymptomatic cardiac rhabdomyoma is presented. A case of TSC warrants cardiac evaluation for the presence of cardiac rhabdomyoma and if a cardiac rhabdomyoma is detected on antenatal ultrasound or postnatal echocardiography, one should have high index of suspicion for the diagnosis of TSC. Continued research on this disease has unfolded many realities regarding its etiology as well as treatment.

scholarly journals 180 The association of prenatally diagnosed cardiac rhabdomyoma and tuberous sclerosis complex

2021 ◽  
Author(s):  
Ana Ćorić ◽  
Tomislav Ćaleta ◽  
Iva Vukšić ◽  
Petra Džepina ◽  
Dorotea Ninković ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cardiac Rhabdomyoma
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