A Case of Fetal Cardiac Rhabdomyoma

ABSTRACT Rhabdomyoma is one of the commonest cardiac tumor detected in prenatal ultrasound. Though its benign and self-limiting, it has a strong association with tuberous sclerosis, and hence needs thorough evaluation not only of the fetus but of the parents for signs of tuberous sclerosis. When isolated, fetus with rhabdomyoma needs to be only followed up for any cardiac complications associated with the mass and delivered. How to cite this article Ganesh C, Sridhar A. A Case of Fetal Cardiac Rhabdomyoma. Int J Infertility Fetal Med 2013;4(2):66-69.

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Considerations for Prenatal Counselling of Patients with Cardiac Rhabdomyomas based on their Cardiac and Neurologic Outcomes

Cardiology in the Young ◽

10.1017/s1047951109992046 ◽

2010 ◽

Vol 20 (1) ◽

pp. 18-24 ◽

Cited By ~ 21

Author(s):

Sabrina C. Degueldre ◽

Priya Chockalingam ◽

Yvan Mivelaz ◽

Stefano Di Bernardo ◽

Jean-Pierre Pfammatter ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Perinatal Period ◽

Cardiac Complications ◽

Cardiac Rhabdomyoma ◽

Neurological Outcomes ◽

Cardiac Tumours ◽

Neurologic Outcomes ◽

Prenatal Counselling ◽

Specific Dimension

AbstractCardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.

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PO16.5 A Case of Tuberous Sclerosis with Cardiac Rhabdomyoma Diagnosed by Prenatal Ultrasound

Clinical Neurophysiology ◽

10.1016/s1388-2457(09)60323-0 ◽

2009 ◽

Vol 120 ◽

pp. S97-S98

Author(s):

Eun Sook Suh ◽

Jang Yong Jin ◽

Woo Ryoung Lee

Keyword(s):

Tuberous Sclerosis ◽

Prenatal Ultrasound ◽

Cardiac Rhabdomyoma

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Cardiac Tumor in Newborn as the Marker of Tuberous Sclerosis: Clinical Case

Педиатрическая фармакология ◽

10.15690/pf.v17i2.2101 ◽

2020 ◽

Vol 17 (2) ◽

pp. 148-151

Author(s):

Elena I. Naumenko ◽

Valeria G. Anufrieva ◽

Irina A. Grishutkina

Keyword(s):

Left Ventricle ◽

Tuberous Sclerosis ◽

Cardiac Tumor ◽

Clinical Case ◽

Molecular Genetic ◽

The Body ◽

Cardiac Conduction ◽

Cardiac Rhabdomyoma ◽

Ventricular Extrasystoles ◽

Mass Lesions

Background. The most common cardiac tumor in children is rhabdomyoma. Its frequency is 58.3% in the early neonatal period. Rhabdomyoma is associate with tuberous sclerosis pretty often (50-86% of all cases) and it be its diagnostic marker.Clinical case description. This article presents case study of the newborn from the mother with burdened obstetric and gynecological anamnesis, type 1 diabetes, nicotine addiction. Multiple mass lesions were revealed in the child’s heart on the 31 st week of gestation. On examination: systolic murmur over the heart region, fibrous nodules on the skin all over the body up to 1-5 mm in diameter, indurated on palpation. Diagnosed echocardiographically: multiple attached, round masses were revealed in the cavity of left ventricle of 7.9×4.1 mm in size, in outflow track of left ventricle (near the aortic root) — 9.3×4.8 mm, in the cavity of right ventricle — 4.3×3.2 mm, in the cavity of right auricle — 5.1×5.0 mm. Pathologic activity of cardiac conduction system was presented only by single supra-ventricular and ventricular extrasystoles due to the results of 24-hour monitoring.Conclusion. Children with cardiac rhabdomyoma diagnosed in prenatal period are threatened by tuberous sclerosis, thus, complex dynamic observation and molecular genetic testing is needed.

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

Cardiology in the Young ◽

10.1017/s1047951121000172 ◽

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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Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy

Archives of Gynecology and Obstetrics ◽

10.1007/s00404-008-0559-x ◽

2008 ◽

Vol 278 (2) ◽

pp. 169-170 ◽

Cited By ~ 4

Author(s):

Nupur Gupta ◽

Neeta Singh ◽

Shikha Sarangi ◽

Saroj Dalmia ◽

Suneeta Mittal

Keyword(s):

Tuberous Sclerosis ◽

Cardiac Rhabdomyoma

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Bilateral renal angiomyolipoma not assocated with tuberous sclerosis: A case report

Pulse ◽

10.3329/pulse.v4i1.6965 ◽

2011 ◽

Vol 4 (1) ◽

pp. 36-37

Author(s):

A Khaled ◽

NUM Arif ◽

W Zaman ◽

TA Nasir

Keyword(s):

Case Report ◽

Tuberous Sclerosis ◽

Strong Association ◽

Smooth Muscles ◽

Renal Angiomyolipoma

Angiomyolipoma is a tumour composed of varying admixtures of bloodvessels, smooth muscles and adipose tissue.Renal angiomyolipoma can be unilateral or bilateral. Bilateral angiomyolipoma has a very strong association with tuberous sclerosis. In non tuberous sclerosis patient, bilateral renal angiomyolipoma is relatively rare. We have described a 49 year old non tuberous sclerosis female presented with bilateral renal angiomyolipoma. Renal angiomyolipoma commonly behaved in a benign way and resection is curative in most of the cases.DOI: http://dx.doi.org/10.3329/pulse.v4i1.6965Pulse Vol.4 January 2010 p.36-37

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

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2017.040 ◽

2017 ◽

Vol 5 (2) ◽

pp. 193-196 ◽

Cited By ~ 7

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.

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Electrocardiographic changes in patients with cardiac rhabdomyomas associated with tuberous sclerosis

Cardiology in the Young ◽

10.1017/s1047951103000507 ◽

2003 ◽

Vol 13 (3) ◽

pp. 258-263 ◽

Cited By ~ 12

Author(s):

Junko Shiono ◽

Hitoshi Horigome ◽

Seiyo Yasui ◽

Tomoyuki Miyamoto ◽

Miho Takahashi-Igari ◽

...

Keyword(s):

Heart Failure ◽

Congestive Heart Failure ◽

Left Ventricular Hypertrophy ◽

Tuberous Sclerosis ◽

Ventricular Hypertrophy ◽

Left Ventricular ◽

Cardiac Rhabdomyoma ◽

Ventricular Cavity ◽

Electrocardiographic Changes

Background:Cardiac rhabdomyomas associated with tuberous sclerosis induce various abnormalities in the electrocardiogram. Electrocardiographic evidence of ventricular hypertrophy may appear if the tumour is electrically active. To our knowledge, electrocardiographic evidence of ventricular hypertrophy has been reported only in association with congestive heart failure. Follow-up studies of changes in electrocardiographic findings are also lacking.Methods:We studied 21 consecutive patients with cardiac rhabdomyoma associated with tuberous sclerosis, 10 males and 11 females, aged from the date of birth to 9 years at diagnosis. The mean period of follow-up was 53 months. None of the patients developed congestive heart failure. We evaluated the electrocardiographic changes during the follow-up, and their association with echocardiographic findings.Results:Of the 21 patients, 12 showed one or more abnormalities on the electrocardiogram at presentation, with five demonstrating right or left ventricular hypertrophy. In all of these five cases, the tumours were mainly located in the respective ventricular cavity. In one patient with a giant tumour expanding exteriorly, there was marked left ventricular hypertrophy on the electrocardiogram. Followup studies showed spontaneous regression of the tumours in 12 of 19 patients, with abnormalities still present in only 7 patients. A gradual disappearance of left ventricular hypertrophy as seen on the electrocardiogram was noted in the patient with marked left ventricular hypertrophy at presentation in parallel with regression of the tumour.Conclusions:The presence of cardiac rhabdomyomas in patients with tuberous sclerosis might explain the ventricular hypertrophy seen on the electrocardiogram through its electrically active tissue without ventricular pressure overload or ventricular enlargement, although pre-excitation might affect the amplitude of the QRS complex. Even in cases with large tumours, nonetheless, the electric potential might not alter the surface electrocardiogram if the direction of growth of the tumour is towards the ventricular cavity. In many cases, electrocardiographic abnormalities tend to disappear, concomitant with regression of the tumours.

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