Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center.

AIMS: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center. METHODS: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow-up were analyzed retrospectively. RESULTS: Nine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene-negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first-year survival rate of the cases was 88.8%. CONCLUSIONS: Cardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family.

Double trouble: orbital rhabdomyoma with trichinellosis.

Rhabdomyoma of the orbit is a rare tumor with very few cases reported in the literature. We herein describe a 5-year-old boy who presented to us with a deviation of his left eye. Magnetic Resonance Imaging (MRI) showed a well-defined homogeneous intraconal mass in the superomedial aspect compressing the optic nerve. An excision biopsy was performed and the diagnosis of rhabdomyoma was confirmed on histopathology and immunohistochemistry with a coincidental finding of Trichinella spiralis larvae within the excised specimen. We report this phenomenon in two rare diseases with a predilection for striated muscle occurring simultaneously in a single patient.

Imaging of pediatric cardiac tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper.

Cardiac tumors in children are rare and the majority are benign. The most common cardiac tumor in children is rhabdomyoma, usually associated with tuberous sclerosis complex. Other benign cardiac masses include fibromas, myxomas, hemangiomas, and teratomas. Primary malignant cardiac tumors are exceedingly rare, with the most common pathology being soft tissue sarcomas. This paper provides consensus-based imaging recommendations for the evaluation of patients with cardiac tumors at diagnosis and follow-up, including during and after therapy.

Cardiac and Pericardial Neoplasms in Children: Radiologic-Pathologic Correlation.

Primary cardiac and pericardial neoplasms are rare in the pediatric population and can include both benign and malignant lesions. Rhabdomyomas, teratomas, fibromas, and hemangiomas are the most common benign tumors. The most common primary cardiac malignancies are soft-tissue sarcomas, including undifferentiated sarcomas, rhabdomyosarcomas, and fibrosarcomas. However, metastatic lesions are more common than primary cardiac neoplasms. Children with primary cardiac and pericardial tumors may present with nonspecific cardiovascular symptoms, and their clinical presentation may mimic that of more common nonneoplastic cardiac disease. The diagnosis of cardiac tumors has recently been facilitated using noninvasive cardiac imaging. Echocardiography is generally the first-line modality for evaluation. Cardiac MRI and CT are used for tissue characterization and evaluation of tumor size, extension, and physiologic effect. The varied imaging appearances of primary cardiac neoplasms can be explained by their underlying abnormality. Treatment of these lesions varies from conservative management, with spontaneous regression of some lesions such as rhabdomyomas, to surgical resection, particularly in patients with associated heart failure. With adequate imaging techniques and knowledge of the pathologic basis of the neoplasm, it is often possible to differentiate benign from malignant tumors, which can greatly affect adequate and timely treatment. ©RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.

Fetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis.

OBJECTIVE: To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex. METHODS: This was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex. Dedicated neurosonographic, fetal magnetic resonance imaging (MRI) and postnatal reports were reviewed. Data collected included reason for referral, gestational age at which cardiac rhabdomyoma was first suspected and final number of cardiac rhabdomyomas detected on dedicated imaging. We searched for tuberous sclerosis complex-related brain involvement, defined as the presence of one or more of the following findings: white-matter lesions; subependymal nodules; cortical/subcortical tubers; and subependymal giant-cell astrocytoma. RESULTS: We included 20 patients at high risk of tuberous sclerosis complex, of whom 19 were referred for the presence of cardiac rhabdomyomas and one for a deletion in chromosome 16 involving the tuberous sclerosis complex gene locus. Cardiac rhabdomyomas were diagnosed at a mean gestational age of 27 + 2 weeks (range, 16 + 0 to 36 + 3 weeks) and the mean number of cardiac rhabdomyomas per patient was 4 (range, 1-10). Brain involvement was present in 15 fetuses, in 13 of which the disease was confirmed in one or more of the following ways: chromosomal microarray analysis (n = 1), exome sequencing (n = 7), autopsy (n = 4), clinical tuberous sclerosis complex in the newborn (n = 4) and a sibling diagnosed with clinical tuberous sclerosis complex (n = 1). In two cases, the disease could not be confirmed: one was lost to follow-up and autopsy, following termination of pregnancy, was not performed in the other. Among the five cases without brain findings, tuberous sclerosis complex was confirmed in three by exome sequencing (n = 2) and/or autopsy findings (n = 2). The two remaining cases had normal exome sequencing; one case had five cardiac rhabdomyomas, which was a highly suggestive finding, while in the final case, the autopsy was considered normal, representing the only false-positive case in our cohort. CONCLUSIONS: Contrary to current literature, dedicated neurosonography appears to be effective in the diagnosis of brain involvement in fetuses at risk of tuberous sclerosis complex and should be used as the first-line approach. Although the number of cases in which MRI was performed was small, it seems that, in the presence of ultrasound findings, the added value of MRI is low. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Solitary atrial Rhabdomyoma in an infant with tuberous sclerosis: a case report and review of the literature.

BACKGROUND: Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the ventricles. Fetal CRs rarely occur in the right atrium. Thus, the presentation of atrial fibrillation and premature atrial contractions (PAC) due to a solitary cardiac rhabdomyoma is an extremely rare scenario. Our literature review found that only 2% (1 out of 61) of rhabdomyoma cases were found in the right atrium. The majority of fetal cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC). CASE PRESENTATION: A 7-day-old male neonate presented with arrhythmias and an atrial mass for further evaluation. Echocardiography revealed a hyperechoic, round, uniform right atrial mass (25 mm). An abdominal and testicular ultrasound showed multiple thin-walled cortical cysts in both kidneys and a scrotal hydrocele, respectively. His laboratory workup was insignificant except for hypomagnesemia. Electrocardiography revealed junctional rhythm and PACs with wave distortions. A brain magnetic resonance imaging scan revealed multiple subependymal lesions on the frontal and occipital horns of the lateral ventricles. These findings (Fig. 1), along with a family history of TSC, confirmed the diagnosis of TSC with associated CR. The patient was treated symptomatically with an anti-convulsant and monitored with regular follow-ups. Surgical resection was not required. CONCLUSION: Despite CR's predominance in the ventricles, a diagnosis of rhabdomyoma should be kept in mind in the presence of a solitary atrial mass and PACs. Physicians should evaluate systemic findings related to TSC and provide appropriate follow-up and family screening. Surgical resection is not always required, and symptom management can be achieved through medical treatment alone.

Effect of different dose regimens of everolimus in a series of neonates with giant cardiac rhabdomyomas.

Everolimus is a mTOR inhibitor that has been increasingly used in high-risk cardiac rhabdomyomas in recent years. There are questions regarding the optimal dose and duration of therapy with everolimus for cardiac rhabdomyomas. The purpose of this study was to examine retrospectively the dosage-efficacy relationship in seven babies diagnosed with rhabdomyoma treated with different everolimus dose regimens retrospectively. Cardiac rhabdomyoma diagnosis was made in six of seven babies during the prenatal period. Indication of everolimus was an obstruction in six patients and supraventricular tachycardia which is resistant to antiarrhythmic drugs in the remaining one patient. The median age was 8 days (range; 2-105 days) at the time of starting everolimus. It was administered at a dose of 0.25 mg twice a day for two days a week in four patients; 0.1 mg/day in two and 0.4 mg/day in one patient. Serum everolimus level was kept between 5 and 15 ng/ml. All seven cases showed significant regression of cardiac rhabdomyoma within four weeks, and supraventricular tachycardia was controlled in two weeks after everolimus administration.This study demonstrates that everolimus was effective in accelerating regression of the cardiac rhabdomyoma. Dose with 2 × 0,25 mg/day, 2 days a week, seems appropriate. However, lower doses such as 0.1 mg/day are also effective. But dose adjustment should be made according to serum level monitoring.

[Asymptomatic course of rhabdomyoma of the heart].

The article describes a clinical case of cardiac rhabdomyoma first diagnosed in an 18-year-old girl. At the age of 12 months, the patient first developed generalized, prolonged convulsive seizure with the eyeballs rolling upward, tonic arm tension, and profuse salivation. From 1.5 to 2 years, according to her mother, the girl had frequent "freezing" with fixed stare. Anticonvulsant therapy was not administered. From the age of 2 years 8 months, the child began to experience episodes of drowsiness, lethargy, blurred speech, and repeated vomiting lasting up to 2 weeks. The patient was regularly treated at the neurological department. According to CT at the age of four, the patient showed characteristic alterations in the brain and was diagnosed with tuberous sclerosis, symptomatic generalized epilepsy, and psychoorganic syndrome. Only at the age of 18, cardiac ultrasound detected a 7x6 mm hyperechoic formation with endogenous growth buried in the myocardium of the left ventricular (LV) anterior-lateral wall and another one in the area of the LV lateral wall with endogenous growth of 2×4 mm. Magnetic resonance imaging (MRI) revealed multiple focal formations with clear, even contours in the area of the middle anterior septal segment (closely adjacent to papillary muscles) in the region of the apex, buried in the myocardium. The formation sizes were 9×7 mm, 8×13 mm, and 7.5×6 mm, respectively, and they moderately accumulated the contrast agent. Lesions with identical characteristics and a diameter up to 4.5 mm were visualized on the anterior wall in the region of the apex, in the depth of the myocardium. Due to the absence of arrhythmias and hemodynamic disorders, immunosuppressive therapy was not administered. Follow-up and dynamic MRI control of the heart were recommended. If signs of tumor growth are detected, consider immunosuppressive therapy with everolimus. The case is of interest for a long asymptomatic growth of rhabdomyoma. Generally, cardiac rhabdomyomas are diagnosed in the postnatal period and may be the earliest manifestation of tuberous sclerosis.

Cardiac rhabdomyoma as a possible new prenatal sonographic feature of Prader-Willi syndrome.

We describe a unique case of a pregnancy with fetal Prader-Willi syndrome (PWS). A 40-year-old pregnant woman prenatally presented with polyhydramnios, decreased fetal movements, fetal growth restriction with normal Doppler study, and fetal cardiac rhabdomyoma, a possible new sonographic markers for PWS, at 31 weeks of gestation. The newborn had hypotonia and feeding difficulty. Molecular genetic study showed a normal copy number of the 15q11.2-q13.1 chromosomal region but hypermethylation pattern of this region, indicating PWS. Other than the combination of polyhydramnios, fetal growth restriction, and decreased fetal movements, cardiac rhabdomyoma was detected and possibly associated with PWS. In conclusion, PWS should be listed in differential diagnoses if fetuses having the following perinatal factors: polyhydramnios, decreased fetal movements, and growth restriction. Finally, cardiac rhabdomyoma, observed in this case, might possibly be associated with PWS, although further studies to confirm are needed.

Management of neonatal cardiac rhabdomyoma obstructing the aortic valve.

Rhabdomyomas associated with tuberous sclerosis are common cardiac tumors in children, and no surgical intervention is needed in most cases. However, when the tumor causes left ventricular outlet tract obstruction (LVOTO), immediate surgical intervention is indicated. Here, we report a newborn who was diagnosed antenatally with multiple cardiac rhabdomyomas, one of which blocked the aortic valve during systole. The tumor was resected early in the postnatal period with excellent outcomes. Until surgery, we maintained ductus arteriosus patency and systemic circulation using prostaglandin E1, which helped to reduce the risk of sudden death due to LVOTO. Postoperative two-dimensional echocardiography at discharge showed that surgery was effective in resolving LVOTO.

Prenatally diagnosed large intrapericardial rhabdomyoma without haemodynamic compromise.

Cardiac rhabdomyoma is the most common primary cardiac tumour and is considered to be a hamartoma of developing embryonic cardiac myocytes. It is commonly seen in tuberous sclerosis. The size and location of the tumour is the surrogate determinant of the risk of haemodynamic compromise. Pericardial rhabdomyoma is very rare and tends to follow the inherent natural history of spontaneous regression. We present cases of two foetuses diagnosed with large pericardial rhabdomyoma and no haemodynamic consequences.

Case Report and Review of the Literature of a Rare Entity of a Uterine Fibroid: A Genital Rhabdomyoma.

Extracardiac rhabdomyomas are rare benign tumors. According to histopathologic and clinical characteristics, they are divided into 3 subgroups: adult, fetal, and genital rhabdomyomas. Various adult extracardiac rhabdomyomas have been reported in the head and neck region, whereas genital rhabdomyomas are uncommon. Here, we report on a uterine genital rhabdomyoma in a 32-yr-old woman with secondary sterility. After myomectomy, the histopathologic analysis showed a slow cycling tumor with striated muscle differentiation and without any evidence of malignancy. Immunohistochemical staining proved coexpression of actin, caldesmon, and desmin. To the best of our knowledge, this is the first case of a uterine-based genital rhabdomyoma.

Rare periurethral fetal rhabdomyoma presenting as a vaginal mass.

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Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report.

INTRODUCTION: The association between cardiac rhabdomyoma and intraventricular tumors and/or subcortical nodules is characteristic of tuberous sclerosis complex (TSC). Patients with TSC may have refractory seizures, autistic behavior, and cognitive decline. CASE REPORT: The patient received the fetal diagnosis of TSC at the age of 19 weeks of gestations, where presented at prenatal ultrasound cardiac and brain tumors. Fetal MRI showed a lesion in the right and left lateral ventricles near the foramen of Monro associated with subependymal lesions along the entire ependyma of the lateral ventricles and several subcortical tubercles, and the fetal Doppler echocardiogram revealed three cardiac lesions. The fetus underwent intrauterine treatment with everolimus and presented regression and subsequent stabilization of the cardiac and brain lesions; additionally, the patient did not develop seizures or autism and presented good neuropsychomotor development. CONCLUSION: It is the first evidence that mTOR inhibitors may help to prevent neurological complications associated with TSC.

Primary cardiac tumours: how well can prenatal diagnosis "predict" postnatal outcome?

OBJECTIVE: Primary foetal cardiac tumours are rare congenital malformations. They can cause a flow obstruction, arrhythmias and can lead to cardiac failure, hydrops or death. Postnatal management is based on patient´s clinical and hemodynamic impairment. METHODS: We retrospectively reviewed data from 2009-2019 from our gynaecology clinic and also data regarding postnatal follow-up from our partner paediatric institution. RESULTS: In this period, we diagnosed six cases with foetal cardiac tumours. In four cases, multiple rhabdomyomas were present. Three patients did not have serious complications pre- or postnatally. In one case, tumours were obliterating both the inflow and the outflow of the left ventricle. The child died at three months of age. Tuberous sclerosis was confirmed in all the cases with rhabdomyomas. One child had a fibroma filling the left ventricle. Despite an uneventful prenatal period, the patient got postnatally symptomatic. Tumour was considered inoperable and the child died at the age of five months. In one case a single right ventricular unspecified tumour was diagnosed, without any complications. CONCLUSION: Prognosis closely depends on early diagnosis, clinical manifestations and the possibility of surgical tumour removal if necessary. In confirmed rhabdomyomas, tests for tuberous sclerosis are mandatory (Tab. 1, Fig. 2, Ref. 18). Text in PDF www.elis.sk Keywords: rhabdomyoma, fibroma, prenatal diagnosis, ultrasound, tuberous sclerosis.

Recurrent primary endobronchial fetal rhabdomyoma: a case report and literature review.

Fetal rhabdomyoma is an extremely rare benign rhabdomyoblastic tumor with myotube-like differentiation, mainly arising on mucosal surfaces of the head and neck region of both children and young patients, almost invariably definitively treated with surgical excision. Herein the case of a male adult suffering from a recurrent fetal rhabdomyoma primary involving the bronchial structures is reported, along with a detailed literature review. This is the first fetal rhabdomyoma described to originate in such a localization; furthermore, an 11-year interval period between the first lesion and the recurrent one has never been reported.

Imaging of fetal tumors and other dysplastic lesions: A review with emphasis on MR imaging.

Fetal tumors and other dysplastic masses are relatively rare. They are usually the result of failure of differentiation and maturation during embryonic or fetal life; dysplastic lesions may be the consequence of an obstruction sequence. In this review, we present the most commonly encountered tumors and masses seen during fetal life. Imaging characteristics, tumoral organ of origin, and its effect on the surrounding organs and overall fetal hemodynamics are descriptors that must be relayed to the fetal surgeon and maternal fetal medicine expert, in order to institute most accurate parental counseling and appropriate perinatal treatment plan.

A rhabdomyoma in the right ventricle presenting as hemodynamics of hypoplastic right heart.

Rhabdomyomas are the most common paediatric cardiac tumours. The natural history of these tumours is mostly benign, and the tumour usually regresses spontaneously. Although surgical resection of these tumours is one of the considerations in patients with ventricular outflow obstruction, a palliation with Blalock-Taussig shunt is an alternative approach with the hope of regression of the tumour over time. We report a case of prenatally diagnosed rhabdomyomas in the right ventricle and its outflow presenting as hemodynamic simulating hypoplastic right ventricle in a newborn. She required prostaglandin and Blalock-Taussig shunts palliation for pulmonary flow and subsequent regression of tumours.

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

Background The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas as well as the identification of factors influencing fetal prognosis. Methods A total of 45 cases of fetuses with prenatally suspected rhabdomyoma and their clinical outcome were analyzed retrospectively. A review of the literature was also performed. Results In five cases, after a tuberous sclerosis complex (TSC) mutation had been confirmed, termination of pregnancy was chosen. In 30 cases postnatal data were available. In 93% TSC was confirmed clinically or by mutational analysis. Two thirds of fetuses presented with multiple tumor while one third presented with a solitary tumor. In two fetuses mild pericardial effusions were observed. Another three fetuses presented with extrasystoles prenatally. No hydrops fetalis or fetal perinatal demise were observed. After birth 41% of the children suffered from arrhythmia including supra- and ventricular tachycardia, Wolff-Parkinson-White syndrome and atrioventricular block. One child received a Fontan procedure with Glenn anastomosis. Another child with a dilatative cardiomyopathy and a left ventricular ejection fraction of 15% died. Fifty-two percent of the children with TSC suffered from epilepsy ranging from absence epilepsy and West syndrome to generalized seizures with a frequency of up to 40 per day. Two children underwent neurosurgery to remove the epileptogenic focus. One child suffered from TSC and Lesch-Nyhan disease. In another case Beckwith-Wiedemann syndrome was identified as the causative disorder. Conclusion Rhabdomyoma are rare, benign tumors. There is an association with TSC. In the majority of cases rhabdomyoma are not hemodynamically relevant and do not increase in size. The quality of life of affected patients is impaired particularly due to epilepsy and psychomotor retardation.