Congenital rhabdomyoma of the heart.Case report with histochemical study of tumor polysaccharide

BEAIRD, JOSEPH B.; Mowry, Robert W.; Cunningham, Joseph A.

doi:10.1002/1097-0142(1955)8:5<916::aid-cncr2820080511>3.0.co;2-6

Cited by 19 publications

(3 citation statements)

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“…They are (periodic acid Schiff-positive), which revealed glycogen in cytoplasmic vacuoles, and these cells showed a centrally placed nucleus with cytoplasm arranged in fine radiating acidophilic fibrils extending toward the periphery (spider cells). 5,7 Our study demonstrated high intracellular immunoreactivity of P62, LC3b, and caspase3 in less vacuolated tumour cells than large vacuolated mature cells. We also found higher interstitial fibrosis in the tumour regions with less vacuolation.…”

Section: Discussionmentioning

confidence: 52%

“…Subsequently, multiple post mortem cases were reported that explored the histopathology of this congenital tumour. [5][6][7] In the last 2 decades, the incidence of congenital rhabdomyoma has increased with medical imaging and prenatal diagnosis advancement. This tumour usually regresses with time; however, it may cause inflow or outflow obstruction in various heart chambers that need urgent surgical intervention.…”

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confidence: 99%

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

et al. 2021

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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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Section: Discussionmentioning

confidence: 52%

mentioning

confidence: 99%

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

et al. 2021

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“…Unfortunately, in our case, the hearts had been fixed in Zenker and attempts to apply the histochemical technics outlined by some authors (2,6) were fruitless and we have been-unable to bring any contribution to the knowledge of the histochemical structure of this lesion. Knowing the biochemical composition of the intracellular material of this abnormal cardiac tissue, which seems to be glycogen, and of the enzymes involved in its metabolism, would clarify the pathogenesis of this lesion.…”

Section: Discussionmentioning

confidence: 85%

Rhabdomyoma of the Heart in Both of a Set of Twins

Scariano

1962

Acta genet. med. gemellol.

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SUMMARYA case of congenital multiple rhabdomyoma of the heart in both of a set of twins of like sex is presented. A separated diamnionic dichorionic placenta was found. However because both twins had the same sex, the same color of eyes, the same blood group and very similar plantar prints pattern they were considered MZ. Twin A died after 10 days becouse of intractable heart failure. Twin B died one hour after birth of hydrops fetalis. The autopsies showed the presence of multiple rabdomyoma in the walls of both hearts and in Twin B a widely patent ductus arteriosus. No other extracardiac anomalies were noted. The diagnosis of rhabdomyoma of the heart, as is usual, was not made. It should be suspected in any infant who shows evidence of cardiac disease. On the other hand, this first case, known so far in the world literature of congenital rhabdomyoma of the heart in both twins could be an important contribution to the knowledge of the nature of this so discussed lesion.

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