Fetal heart rhabdomyomatosis: a single-center experience

Pavlíček, Jan; Klásková, Eva; Kaprálová, Sabina; Procházka, Martin; Vrtěl, Radek; Gruszka, Tomáš; Kacerovský, Marian

doi:10.1080/14767058.2019.1613365

Cited by 15 publications

(25 citation statements)

References 31 publications

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“… The majority of these tumors are classified as benign and include rhabdomyomas, teratomas, fibromas, hemangiomas, and myxomas. The most common among these tumors are rhabdomyomas . Rhabdomyomas are derived from embryonal myoblasts and are composed of myocytes with large vacuoles and considerable quantities of glycogen, often referred to as spider cells.…”

Section: Introductionmentioning

confidence: 99%

“…The most common among these tumors are rhabdomyomas. 2 Rhabdomyomas are derived from embryonal myoblasts and are composed of myocytes with large vacuoles and considerable quantities of glycogen, often referred to as spider cells. 3 Rhabdomyomas are often located in the ventricular myocardium (up to 94%), especially in the interventricular septum, projecting into the cardiac chambers, with a special preference for the left ventricle (LV) and, more rarely, can be located in the atrial wall, at the cavoatrial junction and, occasionally, in the pulmonary trunk.…”

Section: Introductionmentioning

confidence: 99%

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Fetal cardiac rhabdomyomas treated with maternal sirolimus

Pluym

Sklansky

et al. 2020

Prenatal Diagnosis

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Objective To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas. Methods We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in utero treatment of maternal sirolimus. Genetic amniocentesis confirmed a TSC2 mutation. A treatment program was initiated with a 10‐mg loading dose titrated to a goal maternal trough of 10 to 15 ng/dL. In order to follow fetal cardiac function, a sophisticated method of speckle tracking echocardiography was used before and after treatment. Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monitor postnatal growth and development through 6 months of neonatal life. Results Sirolimus was initiated from 28 to 36 weeks of gestation with improvement of cardiac status. During this period, intrauterine growth restriction developed. Postnatally, the infant has had stable rhabdomyomas and cardiac function without reinitiating sirolimus. Brain MRI demonstrated scattered cortical tubers and subependymal nodules, and the infant has not had seizure‐like activity. At 6 months of age, the infant has achieved appropriate developmental milestones. Conclusion In counseling cases of prenatal onset large obstructing rhabdomyomas and cardiac compromise, in utero sirolimus treatment can be considered.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Fetal cardiac rhabdomyomas treated with maternal sirolimus

Pluym

Sklansky

et al. 2020

Prenatal Diagnosis

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“…Intermediate or juvenile subtype is cellular, composed of numerous differentiated myoblasts and a minimal component of primitive, spindle-shaped or spherical cells delineating divergent skeletal muscle differentiation. The neoplasm is predominantly composed of miniature, spindle-shaped cells incorporated with delicate, tapered, bipolar or unipolar eosinophilic cytoplasm, fine nuclear chromatin and inconspicuous nucleoli [6,7]. Cellular rhabdomyoma is composed of fascicles of skeletal muscle cells configuring parallel bundles or a plexiform pattern.…”

Section: Histological Elucidationmentioning

confidence: 99%

“…Enveloping stroma is sparse, collagenous or myxoid. Tumour cells demonstrate variable skeletal muscle differentiation ranging from immature cells with a myxoid pattern to ganglion-like rhabdomyoblasts with prominent nucleoli or strap-like cells imbued with abundant, basophilic or eosinophilic cytoplasm and predominant cross striations [6,7].…”

Section: Histological Elucidationmentioning

confidence: 99%

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The Juvenile Ribbons-Foetal Type Rhabdomyoma

Bajaj¹

2021

JCIM

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Foetal rhabdomyoma is an exceptional, benign, heterologous, immature neoplasm demonstrating skeletal muscle differentiation. Foetal rhabdomyoma commonly emerges in infants and young children with a majority of neoplasms appearing beneath <3 years and a median age of disease emergence at 4 years. Majority of neoplasms are discerned within the head and neck or posterior auricular region. Rhabdomyoma is categorized as cardiac or extracardiac subtypes. The neoplasm can be discerned incidentally or appear as an asymptomatic tumour mass or represent as a painless nodule. Foetal rhadomyoma is pauci-cellular and comprised of primitive, spindle-shaped cells admixed with differentiated myoblasts depicting centroidal nuclei, prominent nucleoli and abundant, eosinophilic cytoplasm incorporated with cross striations.

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