Large cardiac rhabdomyoma in two infants: Good response to medical management – A brief report
Josephat M Chinawa1, Swati Garekar2, Bhadra Trivedi2 1 Department of Pediatrics, College of Medicine, University of Nigeria, University of Nigeria Teaching Hospital, Enugu State, Nigeria 2 Department of Pediatric Cardiology/Pediatric Cardiac Surgery, Fortis Hospital Limited, Mumbai, Maharashtra, India
Date of Web Publication
26-Oct-2017
Correspondence Address: Josephat M Chinawa Department of Paediatrics, University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu State Nigeria
Source of Support: None, Conflict of Interest: None
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DOI: 10.4103/njc.njc_19_17
Abstract
Rhabdomyomas are rare tumors in children often associated with tuberous sclerosis. They are usually diagnosed during antenatal period or as an incidental finding. The first case is a 2.5-month-old child who was diagnosed to have rhabdomyomas at gestational age of 24 weeks. Electrocardiogram revealed left axis deviation and multiple premature atrial contractions. Echocardiography showed massive tumor occupying the right ventricular cavity. Tuberous sclerosis was seen on magnetic resonance imaging. He was commenced on everolimus with obvious regression of tumor. The second case is an 8-month-old male who was referred to us for cardiac evaluation. Echocardiography showed two masses of rhabdomyoma. He was also placed on everolimus but was lost to follow-up. Rhabdomyomas are rare tumors of the heart which respond well to chemotherapy.
How to cite this article: Chinawa JM, Garekar S, Trivedi B. Large cardiac rhabdomyoma in two infants: Good response to medical management – A brief report. Nig J Cardiol 2017;14:106-8
How to cite this URL: Chinawa JM, Garekar S, Trivedi B. Large cardiac rhabdomyoma in two infants: Good response to medical management – A brief report. Nig J Cardiol [serial online] 2017 [cited 2023 May 29];14:106-8. Available from: https://www.nigjcardiol.org/text.asp?2017/14/2/106/217273
Introduction
Rhabdomyoma, a rare malignant tumor of the heart, accounts for 20% of all malignant tumors of the heart.[1] This tumor was first diagnosed by histological examination of surgical or postmortem specimens.[1] At present, the diagnosis of rhabdomyoma is frequently obtained through transthoracic or transesophageal echocardiography and nuclear magnetic resonance imaging (MRI).[1]
It is usually diagnosed before birth or during the 1st year of life. Studies have demonstrated that the incidence of cardiac rhabdomyoma is 0.002%–0.25% at autopsy, 0.02%–0.08% in live-born infants, and 0.12% in prenatal reviews.[2] Rhabdomyoma is increasingly diagnosed these days because of the advent of ultrasonography as part of the routine prenatal screening.[3]
Cardiac rhabdomyoma is almost always associated with tuberous sclerosis. This anomaly is inherited or may occur sporadically. It is characterized by widespread hamartomas that involve the brain, kidneys, heart, skin, and other organs. It is known that about 50% of patients with tuberous sclerosis develop a cardiac rhabdomyoma. In the corollary, approximately 51%–86% of children diagnosed with cardiac rhabdomyomas have tuberous sclerosis.[3]
The clinical features of cardiac rhabdomyomas vary widely, depending on the location, size, and number of tumors in the heart.[4]
Although cardiac rhabdomyomas can be associated with intrauterine fetal demise, many are detected incidentally during routine antenatal sonographic screening.[4] Symptoms of cardiac rhabdomyomas arise because of chamber or valve obstruction, arrhythmias, or heart failure resulting from extensive myocardial involvement.[4] Tumors obstructing the right side inflow or the outflow of the ventricles can lead to decreased cardiac output, atrial and caval hypertension, hydrops fetalis, and death.[4]
The purpose of presenting these cases is to highlight its rarity and the possibility of regression of tumor with chemotherapy.
Case Reports
Case 1
This is a 2.5-month-old male child who was diagnosed to have rhabdomyomas at gestational age of 24 weeks during antenatal visit. At that time, the fetus had multiple rhabdomyoma and also mild pericardial effusion. The child was born preterm and was noted to have grunting respiration and was placed on continuous positive airway pressure. The child was delivered by spontaneous vertex. The couple were nonconsanguineous and of low socioeconomic class. Two months later, he presented with seizures characterized by mild deviation of angle of mouth and posturing.
Examination revealed a child who has no dimorphism, cachectic with Grade 3 in 6 early systolic murmurs and hepatomegaly. Electrocardiogram revealed left-axis deviation and multiple premature atrial contractions.
Echocardiography showed massive right ventricular tumor measuring 4.16 by 2.5 cm occupying the right ventricular cavity partially obstructing the right ventricular outflow tract (RVOT) [Video 1].
Small tumor masses were also noted in the interventricular septum and left ventricular free wall.
MRI of the brain showed periventricular nodules, cortical and subcortical hematomas and tubers which is in keeping with the diagnosis of tuberous sclerosis as per international complex diagnostic criteria (2012). He was commenced on everolimus 0.15 mg 12 hourly with weekly follow up.
Four months thereafter, follow-up echocardiography showed well-regressed tumor with right ventricular tumor size regressed to 2.4 cm. No other masses were seen, and there was no longer right ventricular outflow obstruction. He was scheduled for MRI assessment, but due to financial restraint, second MRI was not done.
Case 2
This is an 8-month-old male child who was referred to us for cardiac evaluation though he had no cardiac symptoms. Examination showed an alert and active child with no skin lesions.
Echocardiography showed two masses of rhabdomyoma. One of the masses measures 1.9 by 1 cm in the right ventricular apex, and the other mass was seen in left ventricular cavity measuring 1.3 by 1 cm. This mass is tightly attached to intraventricular septum. There is no significant hemodynamic compromise, no obstruction. Abdomen ultrasound and MRI brain was ordered, and the patient was also place on everolimus but was lost to follow-up.
Discussion
Rhabdomyomas are rare cardiac tumors.[5] They are often diagnosed antenatally and postnatally by echocardiography.[5] One of our series was detected at 24 weeks gestation while the other case was as incidental finding. Rhabdomyomas tend to regress spontaneously and are not usually operated upon, unless they become obstructive or cause severe arrhythmias.[5],[6] This is akin to our series that also had RVOT obstruction. It is also noteworthy that due to the large-sized tumor causing RVOT obstruction, the child was placed on everolimus. They were diagnosed with echocardiography and MRI, placed on everolimus with marked regression of the tumor burden. Everolimus is known to markedly reduce tumor burden. It is known that within 2.5 months of everolimus treatment, hemodynamic and clinical instability of the patient normally improved.[6]
Rhabdomyoma is often associated with tuberous sclerosis. Our series were screened for tuberous sclerosis with one of them showing the disease. This was confirmed clinically with a history of seizures and showing hammatoma and tubers. Sporadic mutations are responsible for more than 50% of rhabdomyomas.[6],[7] In rare cases, tetralogy of Fallot, Ebstein's abnormality, and hypoplastic left heart syndrome can be associated with cardiac rhabdomyoma. All our series had no congenital heart disease. The systolic murmurs on the first case were a hemic murmur of heart failure.
Rhabdomyomas in children should be differentiated from other cardiac tumors, such as cardiac myxoma (usually located in the atria, inserted on the interatrial septum), teratoma (located in the pericardium), hemangioma, and fibroma.[7]
Surgical treatment may be indicated when these tumors cause severe, valvular insufficiency, and cardiac arrhythmias.[6],[7] The prognosis of patients with rhabdomyomas is chiefly determined by the size and location of the lesion.[8] Tumors larger than 20 mm in diameter are more likely to cause hemodynamic disturbances which are associated with an increased risk of death.[8] The tumor size of our first case is more than 20 mm with lots of hemodynamic changes before commencement of everolimus. Rhabdomyomas that obstruct the inflow or ventricular outflow tracts or that alter valve function and lead to regurgitation also carry a poor prognosis. Long-term prognosis is affected by the neurologic manifestations associated with tuberous sclerosis.
Conclusion
Rhabdomyomas are rare tumors of the heart which respond well to chemotherapy. A high index of suspicion and urgent treatment is needed to avert numerous complications that follow it.
Acknowledgments
We acknowledge everyone who contributed in the analysis and interpretation of data.
Sokullu O, Sanioglu S, Deniz H, Ayoglu U, Ozgen A, Bilgen F, et al. Primary cardiac rhabdomyosarcoma of the right atrium: Case report. Heart Surg Forum 2008;11:E117-9.
Stratemann S, Dzurik Y, Fish F, Parra D. Left ventricular cardiac fibroma in a child presenting with ventricular tachycardia. Pediatr Cardiol 2008;29:223-6. [PUBMED]
Batmaz G, Besikçi R, Arslan G, Kafadar I, Ahunbay G. Spontaneous regression of huge cardiac rhabdomyoma in an infant. Images Paediatr Cardiol 2000;2:4-10.
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