Cardiac fibroma presenting as hypoplastic left heart syndrome in a foetus: causal or coincidental?

Primary cardiac tumours are very rare. Cardiac tumours in the perinatal period are even more uncommon with a prevalence of 0.0017% to 0.28% in autopsy series. The majority of benign cardiac tumours are cardiac rhabdomyomas, followed by cardiac fibromas. Another rare congenital heart disease is hypoplastic left heart syndrome (HLHS). Here we present a 21-week-old foetus diagnosed antenatally with HLHS on foetal echocardiogram. An autopsy done on the foetus following medical termination of pregnancy revealed a cardiac fibroma in the ventricular septum. It is very uncommon to have a combination of two congenital heart diseases. An extensive literature review revealed only three cases that had rhabdomyoma and associated HLHS. This case presented with cardiac fibroma which in early gestation would have resulted in left ventricular outflow obstruction leading to the development of HLHS. Small cardiac tumours which are difficult to detect by echocardiogram in early gestation can lead to the development of HLHS. A thorough and hierarchical autopsy examination of such cases can help in a better understanding of the relationship between HLHS and cardiac tumours.

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.

Surgical Treatment of Pediatric Refractory Ventricular Tachycardia Originating From a Left Ventricular Rhabdomyoma.

Cardiac tumors are very rare in children, and echocardiography is very important in their detection. The clinical presentation can vary greatly depending on arrhythmia or obstruction. One of the most important factors determining the surgical approach is the clinical process. In this case report, we report the surgical treatment of a rhabdomyoma that caused refractory ventricular tachycardia.

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.

[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.

Prenatal diagnosis of fetal pericardial rhabdomyoma resulting in fetal death.

We present a case of huge pericardial rhabdomyoma that progressed into the pericardial cavity, resulting in fetal death. Fetal ultrasound and neonatal echocardiography provide excellent diagnostic methods for fetal rhabdomyoma. When established, antenatal diagnosis enables a focused, specialized, and multidisciplinary approach with individual case management, potentially reducing perinatal morbidity and mortality.

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.

Study on prenatal diagnosis and pregnancy outcome analysis of fetuses with cardiac rhabdomyoma.

OBJECTIVE: To investigate the prenatal imaging characteristics, genetic characteristics and pregnancy outcome of fetuses with cardiac rhabdomyoma. STUDY DESIGN: The prenatal ultrasound, cranial MRI imaging information and genetic test results of 35 fetuses prenatally diagnosed with cardiac rhabdomyoma were collected and retrospectively analyzed, and the pregnancy outcome was followed up. RESULT: Cardiac rhabdomyomas mainly occurred in left ventricular wall and ventricular septum; cranial MRI imaging was found abnormal in 38.1% (8/21) of the fetuses; genetic test was found abnormal in 58.82% (10/17) of the fetuses; the fetus was born in 12 cases and the pregnancy was terminated in 23 cases. CONCLUSION: TRIO whole exome sequencing (TrioWES) is recommended as the genetic test regime for cardiac rhabdomyoma. The comprehensive evaluation of prognosis of fetuses needs to consider the genetic results and whether the brain is involved; the prognosis of fetuses with simple cardiac rhabdomyoma is good.

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.

A case of massive fetal cardiac rhabdomyoma: ultrasound features and management.

We report the case of a massive fetal cardiac rhabdomyoma recently occurred at our clinic. A woman at 23 weeks of gestational age was referred to our center for a fetal cardiac echogenic mass of 26 mm detected at the second-trimester screening ultrasound. During pregnancy, though, the mass progressively increased its dimensions until reaching 48 mm in diameter at 37 weeks of gestation. Fetal echoencephalography and brain magnetic resonance did not show any further fetal anomalies, but molecular genetic testing at amniocentesis revealed a heterozygotic missense variant of gene TSC2 associated with Tuberous Sclerosis. The mass was therefore most likely preferable to a single large rhabdomyoma of gradually increasing dimensions. The baby was delivered at term with a cesarean section. Because of the rhabdomyoma remarkable size and newborn ECG electrical alterations, postnatal therapies with Flecainide and Everolimus were started. Everolimus treatment led to a significant and progressive reduction in the cardiac mass volume. This case, therefore, shows the efficacy of what seems to be a promising treatment in pediatric patients with large rhabdomyomas.Learning points:Rhabdomyomas may present with different features: most often they appear as multiple masses along the interventricular sept, but they may also appear as a single large thoracic mass.When a rhabdomyoma is suspected, genetic counseling is recommended.Both before and after birth, a multidisciplinary approach is useful to choose the appropriate therapy for the newborn.mTOR inhibitors therapies look like promising therapeutic approaches to stimulate the involution of rhabdomyomas.

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.

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.

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.

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.

Congenital cardiac masses: a case report.

BACKGROUND: Cardiac tumors in infants and children are rare. The most common cardiac tumor is rhabdomyoma, which may be associated with tuberous sclerosis. However, not all cardiac rhabdomyomas are pathognomonic for tuberous sclerosis, and not all congenital cardiac tumors are rhabdomyomas. During the prenatal period, early cardiac tumor detection provides important information about fetal wellbeing, delivery planning, and necessary postnatal care. CASE PRESENTATION: We report a 36-year-old African American pregnant women. At 32 weeks 5 days gestational age, the male fetus had a fetal echocardiogram due to fetal arrhythmia. The fetal echocardiogram showed two small echogenic, RV apex and septal masses, suspicious of rhabdomyomas. After a routine pregnancy and a normal spontaneous vaginal delivery (39 weeks 1 day), the male baby was admitted to the neonatal intensive care unit for further monitoring and postnatal evaluation. CONCLUSIONS: Rhabdomyomas are extremely rare and unique tumors. These tumors are very dangerous, but they usually regress after birth. During the prenatal period, early cardiac tumor detection provides important information about fetal wellbeing, delivery planning, and necessary postnatal care. We present this case to share our findings with our pediatric colleagues. Although a rarely reported case, we hope this cardiac rhabdomyoma case report and literature review can increase cardiac tumor awareness.

Neonatal rhabdomyoma with cardiac dysfunction: favourable response to sirolimus.

Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong genetic association to tuberous sclerosis complex. Although most of the patients remain asymptomatic, a small proportion present with cardiac complications in the early neonatal period. Timely initiation of treatment can potentially reduce disease morbidity, and mammalian target of rapamycin (M-TOR) inhibitors play an effective role in promoting regression of these tumours. A healthy term newborn was diagnosed with a giant congenital cardiac rhabdomyoma at birth. He developed clinical signs of compromised cardiac function and progressive myocardial ischaemia, with echocardiography showing significant dyskinesia. He was treated with M-TOR inhibitors and clinical response was monitored via serial echocardiography. Remarkable regression of the tumour was visibly demonstrated within 4 months of sirolimus treatment. The infant continues to be reviewed by a multidisciplinary team of physicians and monitored for features of tuberous sclerosis complex.