Unusual Outcome of a Right Ventricular Rhabdomyoma in an Infant

Lefort, Bruno; Lothion, Julie; Arid, Jean-Marc El; Tabareau-Delalande, Flore; Nassimi, A.; Neville, Paul; Chantepîe, A.

doi:10.1177/2150135115593133

Cited by 6 publications

(5 citation statements)

References 8 publications

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“…Depending on the size and location, they can obstruct the ventricular outflow tracts mimicking pathologies like tetralogy of Fallot or left heart hypoplastic syndrome, depending on the site of obstruction. 16,17 Heart failure can develop not only in the setting of an obstructive mass but also precipitated by an arrhythmia secondary to conduction system invasion. 18 In foetal life, atrioventricular reentrant tachycardia is the most common and can precipitate foetal hydrops.…”

Section: Rhabdomyomasmentioning

confidence: 99%

Cardiac tumours in children: a single-centre experience and literature review

2022

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Cardiac tumours are extremely rare in children. Although more than 90% are benign, children can develop obstructive or embolisation derived symptoms, arrhythmias, constitutional symptoms, cardiac tamponade, or even sudden death. Although the majority are asymptomatic, and some spontaneously regress, appropriate follow-up is needed on a case-by-case basis, as patients may develop late symptoms. Definitive diagnosis is only possible through histological analysis; however, it is possible to infer tumour type with a high grade of certainty based on imaging features, particularly cardiac magnetic resonance. Surgical resection is advocated for those causing symptoms, obstruction, cardiac dysfunction, and high risk of embolisation. The aim of this review is to present the state of the art related to cardiac tumours in the paediatric population, in the context of our own experience.

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Section: Rhabdomyomasmentioning

confidence: 99%

Cardiac tumours in children: a single-centre experience and literature review

2022

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“…We reviewed the literature on RVOTO caused by cardiac tumors reported in the past decade ( Table 1 ). In terms of tumor types, the literature reported primary tumors such as fibroma ( 12 ), leiomyoma ( 13 ), hemangioma ( 17 ), rhabdomyoma ( 20 ), and metastatic cardiac tumor from sigmoid colon cancer ( 16 ), testicular tumor ( 15 ), neuroendocrine tumor ( 25 ) etc. Interestingly, tumors not located in the right ventricle can also cause obstruction, such as tumors located in the right atrium, interventricular septum, and anterior mediastinum ( 24 , 32 , 33 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: Right ventricular outflow tract obstruction caused by multicomponent mesenchymal tumor

Huang

Wang

Tang

et al. 2022

Front. Cardiovasc. Med.

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Right ventricular outflow tract obstruction (RVOTO) is a cause of hemodynamic instability that can lead to right ventricular dysfunction. Cardiac tumors located in the right ventricle or surrounding structures can cause RVOTO. Herein, we present a rare case of a 21-year-old male with palpitations due to RVOTO caused by a cardiac multicomponent mesenchymal tumor. The tumor was localized in the right ventricular outflow tract, resulting in right side heart enlargement, tricuspid regurgitation, and RVOTO. Hence, tumor resection was performed. The patient was in a stable condition and discharged home on the 6th post-operative day. However, histopathological examination of the tumor specimen suggested a three-component mesenchymal tumor containing mucinous components, formed blood vessels, and fibrous tissue, which is like an atypical capillary hemangioma. After seven years of follow-up, the patient had no right heart enlargement, tricuspid regurgitation, and tumor recurrence. We believe surgical treatment is effective, and this case will provide a reference for clinicians to treat and evaluate the prognosis of similar three-component mesenchymal cardiac tumor cases in the future.

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“…Diffuse cardiac rhabdomyomatosis with or without compensatory hypertrophy was reported in some other sudden death cases [14,15]. Nonobstructive cardiac rhabdomyoma can also progress to cause right ventricular outflow tract obstruction [28]. In reports from Mayo Clinic (a series of 40 cases), only one death was attributable to obstruction of the ventricular outflow tract by intracavitary tumors [29].…”

Section: Discussionmentioning

confidence: 99%

Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex

et al. 2019

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Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. Rhabdomyoma is the most common cardiac tumor diagnosed in fetuses, neonates and infants, and is closely linked to TSC. Here we describe an autopsy case of right ventricular rhabdomyoma in TSC. The deceased was a 3-month-old male infant, and TSC with a cardiac tumor had been diagnosed before his death. Since the cardiac tumor had not been physically blocking the blood flow, he had not undergone surgical intervention. At autopsy, the patient's height was 62 cm and his body weight was 6 kg. The heart weighed 37.3 g and the right ventricle was filled with the tumor. The tumor measured 2.1cm × 1.6cm, being a fusion of multiple tumors with several attachment sites to the myocardium. Histologically, the tumor was diagnosed as a rhabdomyoma, and was positive for mammalian target of rapamycin (mTOR). The brain weighed 795.0 g, without hydrocephalus. The cut surface of the brain revealed multiple cortical tubers and subependymal nodules. Through screening for the TSC1 (hamartin) and TSC2 (tuberin) genes, a nonsense mutation, c.1108C>T:p.Gln370*, was detected in the TSC2 gene. Immediate cause of death was determined to be ventricular obstruction by a cardiac rhabdomyoma with insidious growth. This case highlights the need for forensic pathologists to perform a complete autopsy to determine the cause of sudden death with cardiac tumor, including genetic examination.

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Unusual Outcome of a Right Ventricular Rhabdomyoma in an Infant

Cited by 6 publications

References 8 publications

Cardiac tumours in children: a single-centre experience and literature review

Cardiac tumours in children: a single-centre experience and literature review

Case report: Right ventricular outflow tract obstruction caused by multicomponent mesenchymal tumor

Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex

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