Pediatric primary cardiac tumors: Diagnosis and treatment

Opinion statement Primary cardiac tumors are rare in pediatrics. Their clinical presentation differs among the various age groups (fetus to the young adult). Our discussion focuses on the diagnosis and treatment of rhabdomyomas, fibromas, myxomas, and pericardial teratomas in the fetus and neonatal stages. Fetal diagnosis has been described in association with rhabdomyomas, fibromas, and pericardial teratomas. It is made by echocardiography prompted by fetal dysrhythmias, nonimmune hydrops, intrauterine growth restriction, and familial tuberous sclerosis. Based on our experience, it is of the utmost importance to refer these patients to a tertiary center for detailed evaluation, follow-up, and delivery. Tumor diagnosis in the neonatal age group may be prompted by a murmur, dysrhythmia, conduction block, and hemodynamic compromise or hypoxemia due to right or left inflow or outflow tract obstruction. Prenatal diagnosis of a hemodynamically significant mass mandates the presence of a neonatal intensivist in the delivery room for prompt initiation of advanced life support (intubation, mechanical ventilation, and central venous access), and early initiation of prostaglandin E₁ to establish ductus arteriosus patency. Severe inflow obstruction associated with a restrictive atrial septum may require balloon atrial septostomy. Emergent transvenous pacing is indicated in the face of high-degree atrioventricular block. Early surgical removal of the mass after initial stabilization in the neonatal or cardiac intensive care unit may be indicated.     

10 year review of cardiac tumours in childhood.

OBJECTIVE--To review the commonest types of cardiac tumours in childhood, their different presentations, and management. DESIGN--A retrospective study of patients with cardiac tumours. SETTING--Cardiac department of a teaching hospital. PATIENTS--Six patients with an age range between one day to three years presented over a period of 10 years. MAIN OUTCOME MEASURES--To determine different presentations, management, and prognosis of cardiac tumours. RESULTS--Three patients presented with an arrhythmia, two with an asymptomatic heart murmur, and the sixth was discovered accidentally. Surgical resection of the tumours was performed in five cases, one patient died during the operation, one developed new tumours after surgery, and the remaining three have had an excellent result. Histology of those operated on showed benign rhabdomyomas in three and fibromas in the other two. The sixth patient was managed conservatively and the multiple tumours he had showed gradual resolution over a period of 10 months follow up. One baby with rhabdomyoma had signs of tuberous sclerosis whereas the others were normal at follow up five months to three years after diagnosis. None of them had a positive family history. CONCLUSION--Cardiac tumours in childhood are extremely rare. The commonest types are rhabdomyomas, then fibromas. Most cases are diagnosed by echocardiography. The prognosis for most patients is excellent.     

Benign tumors of the heart (excluding myxoma). Experience with 9 surgically treated cases

Benign non myxomatous cardiac tumors are rare. Between 1968 and 1988, 9 patients presenting benign non myxomatous cardiac tumors were operated in our institution. Tumors were: 2 rhabdomyomas, 2 lipomas, 2 fibromas, 1 pheochromocytomas, 1 mesothelioma and 1 papillary fibroelastoma. Total excision was possible in all cases but one (multiple fibromas). We hereby present a review of the literature on the subject. We focalize on the new imagery techniques in order to help the diagnosis and on the new surgical possibilities (cardiomyoplasty) which make possible complete surgical excision.     

Imaging of Ventricular Septal Tumor in an Asymptomatic Adolescent using Multiple Modalities

Primary cardiac tumors are rare at all ages, and especially so in childhood, where the most prevalent type of benign cardiac masses are rhabdomyomas followed by fibromas, both of which have a predilection for ventricular septum. We report an unusual case of a tumor involving the ventricular septum in an asymptomatic 17-year-old adolescent who has been known to have this tumor for 10 years. The use of multiple imaging included myocardial contrast two-dimensional echocardiography, real time three-dimensional echocardiography (with and without myocardial contrast), and magnetic resonance imaging supported the diagnosis of cardiac rhabdomyoma.     

Asymptomatic cardiac tumor in a child: an incidental diagnosis

Cardiac tumors in the pediatric population are rare, their incidence range between 0.001% and 0.003%. They are mostly benign, rhabdomyomas the most common type, followed by fibromas. The clinical features are being usually nonspecific and depend on the size and location of the tumor within the heart. We report the case of a previously healthy four-year-old boy referred for flu-like symptoms. A respiratory infection was suspected and a chest X-ray showed an increased cardiothoracic index. An echocardiogram revealed a single large heterogeneous mass in the left ventricle emerging from the lateral wall. Despite its size, the mass did not obstruct the left ventricular outflow tract or affect mitral valve function. Cardiac magnetic resonance imaging showed a large mass whose imaging features were suggestive of a fibroma. He became symptomatic during follow-up and was referred for surgical excision of the mass. Histological study confirmed a fibroma. At present the patient remains asymptomatic.     

Successful surgical excision of a large left ventricular fibroma in a child

Primary cardiac tumours in children are rare. Despite the majority of these tumours being benign, they may cause blood flow obstruction, ventricular dysfunction, and life-threatening arrhythmias. We present a case of a 4-year-old boy with repeated presyncope episodes in whom we found a large left ventricular fibroma. Our case emphasises that surgical resection is safely feasible even with large fibromas, avoiding cardiac transplantation in childhood.     

Tumors and the heart: molecular genetic advances

Recent molecular genetic investigations of primary cardiac tumors (myxomas, lipomas, rhabdomyomas, and fibromas) have provided insight into fundamental mechanisms of cardiac cell growth. Myxomas are the most common adult cardiac tumor, and familial cardiac myxomas are now appreciated to be caused by mutations in the PRKAR1alpha gene that encodes a regulatory subunit of protein kinase A. Cytogenetic studies have targeted candidate chromosomal loci that may be perturbed during cardiac lipoma pathogenesis. Rhabdomyomas, the most common pediatric cardiac neoplasm, are frequently associated with tuberous sclerosis, caused by mutations in the TSC-1 and TSC-2 genes. The study of Gorlin syndrome has shed light on the etiology of cardiac fibromas. This disorder is caused by mutation of the PTC gene, which regulates cell growth, commitment and differentiation. In the future, manipulation of PRKAR1alpha-, TSC-, and PTC-dependent pathways may foster new strategies to regenerate myocardium in the ischemic or myopathic heart.     

Cardiac rhabdomyoma in children and Bourneville's tuberous sclerosis

Cardiac rhabdomyomas are rare congenital tumours resulting from an early dysembryoplastic disorder of organogenesis. They are generally benign hamartomas which may be the first manifestation of a phakomatosis, tuberous sclerosis (TS) (Bourneville disease), present in over half of cases. The cases of 11 children with cardiac rhabdomyomas are reported. All of them also had extracardiac lesions of TS. Their ages ranged from 1 day to 6 years of age. In one case, the diagnosis was made antenatally by foetal echocardiography. The clinical expression may be very serious when there are hemodynamic disturbances resulting from an obstructive syndrome (N = 3) or arrhythmias (N = 2). Nevertheless, the cardiac evolution is usually favorable (N = 9) in contrast to the neuropsychiatric outcome which is generally catastrophic (N = 8). The diagnosis is made by two-dimensional echocardiography and magnetic resonance imaging. Surgical resection of the tumours is reserved for forms complicated by cardiac failure due to intracardiac obstruction (N = 2) of life-threatening resistant arrhythmias. Genetic counseling should be directed towards prevention of TS because it is transmitted in an autosomal dominant mode. However, most of the cases are sporadic. Echocardiography should be systematic in all children with TS and is also recommended for members of their families, even those apparently unaffected, in order not to miss paucisymptomatic forms of TS.     

Management of a Fetal Intrapericardial Teratoma: A Case Report and Review of the Literature

Intrapericardial teratomas are rare but potentially fatal. With prenatal ultrasound, early diagnosis and decision for treatment can be accomplished. However, the decision becomes to treat prenatally vs. waiting until the neonatal period for definitive surgical management. The most common sequelae of intrapericardial teratomas are pericardial effusion and often progression to hydrops. It is these sequelae that tend to guide management. Presented here is a case report of the diagnosis and management of a twin fetus with an intrapericardial teratoma, as well as a review of the literature.     

Primary pediatric cardiac tumors: a 17 year experience.

We reviewed 22 cases of primary pediatric cardiac tumors followed at our institution from January 1981 through November 1997, analyzing them by subtype, age and manner of presentation, location, associated findings, interventions, and clinical course. Rhabdomyomas were the most common (11), followed by intrapericardial teratomas (2), myxomas (1), fibromas (1), hemangiomas (1), mesotheliomas (1), and rhabdomyosarcomas (1), with 4 undetermined tumors. The majority (77%) of tumors were diagnosed before the age of one year, including six prenatally. The most common presentations were murmurs (5), arrhythmias (5), and abnormal screening fetal ultrasound examinations (4). Tumors were located most frequently in the right ventricle (13) and left ventricle (7), with multiple tumors being present in 10 cases. Eight patients (36%) had associated arrhythmias or conduction abnormalities, and of the 11 patients with rhabdomyomas, tuberous sclerosis was diagnosed in 8. Eight patients underwent cardiac catheterization, including two for electrophysiologic study with radiofrequency ablation, and seven patients had complete or partial tumor resection. The follow-up period ranged from 2 months to 15 years, and there were 3 tumor-related deaths. Therefore, despite the benign histology of most primary pediatric cardiac tumors, there may be significant associated morbidity and occasional mortality. As echocardiographic techniques such as fetal ultrasonography have continued to improve, however, these cardiac tumors have increasingly been detected early before significant symptoms develop.     

Electrocardiographic changes in patients with cardiac rhabdomyomas associated with tuberous sclerosis

BACKGROUND: Cardiac rhabdomyomas associated with tuberous sclerosis induce various abnormalities in the electrocardiogram. Electrocardiographic evidence of ventricular hypertrophy may appear if the tumour is electrically active. To our knowledge, electrocardiographic evidence of ventricular hypertrophy has been reported only in association with congestive heart failure. Follow-up studies of changes in electrocardiographic findings are also lacking. METHODS: We studied 21 consecutive patients with cardiac rhabdomyoma associated with tuberous sclerosis, 10 males and 11 females, aged from the date of birth to 9 years at diagnosis. The mean period of follow-up was 53 months. None of the patients developed congestive heart failure. We evaluated the electrocardiographic changes during the follow-up, and their association with echocardiographic findings. RESULTS: Of the 21 patients, 12 showed one or more abnormalities on the electrocardiogram at presentation, with five demonstrating right or left ventricular hypertrophy. In all of these five cases, the tumours were mainly located in the respective ventricular cavity. In one patient with a giant tumour expanding exteriorly, there was marked left ventricular hypertrophy on the electrocardiogram. Followup studies showed spontaneous regression of the tumours in 12 of 19 patients, with abnormalities still present in only 7 patients. A gradual disappearance of left ventricular hypertrophy as seen on the electrocardiogram was noted in the patient with marked left ventricular hypertrophy at presentation in parallel with regression of the tumour. CONCLUSIONS: The presence of cardiac rhabdomyomas in patients with tuberous sclerosis might explain the ventricular hypertrophy seen on the electrocardiogram through its electrically active tissue without ventricular pressure overload or ventricular enlargement, although pre-excitation might affect the amplitude of the QRS complex. Even in cases with large tumours, nonetheless, the electric potential might- not alter the surface electrocardiogram if the direction of growth of the tumour is towards the ventricular cavity. In many cases, electrocardiographic abnormalities tend to disappear, concomitant with regression of the tumours.     

Giant fibroma of the right ventricle

Cardiac fibromas are rare benign tumours of connective tissue that occur most frequently in children within the left ventricle. Spontaneous regression has not been observed, and surgical intervention is usually required. We have successfully treated a 1-year old girl with a giant fibroma of the right ventricle using the principles of the Batista procedure. The diagnosis was primarily made using transthoracic echocardiography.     

Primary tumors of the heart. Diagnostic, anatomic and therapeutic aspects

Primary cardiac tumours are rare. They are usually benign, the most common ones being left atrial myxomas. The authors report their experience of 16 cardiac tumours operated between 1978 and 1985. The patients were 12 adults and 4 children. The tumours were benign in 14 cases and malignant in 2 cases. Complete (14 cases) or incomplete ablation of the tumour was carried out under cardiopulmonary bypass with an early mortality of 6.25 per cent (1 case) and late mortality of 12.5 per cent (the two malignant tumours). The tumours were identified as myxomas in 11 cases, rhabdomyomas in 2 cases, fibroma in 1 case and malignant sarcomas in 2 cases. The average follow-up period of the 13 survivors is 30 months (range 4 months to 5 years) with excellent clinical and anatomical results. Clinical and paraclinical diagnosis of these tumours does not pose any major problems nowadays because of the reliability of the methods of investigation. However, the nature of the tumour is not always predictable and the operative findings are fundamental, not so much for the treatment which is relatively stereotyped but for the prognosis. Age is not a significant prognostic factor as excellent results may be obtained in the very young and the very old despite a sometimes precarious preoperative clinical condition. The benign or malignant nature of the tumour is the only real factor which affects the prognosis.     

Resection of ventricular rhabdomyomas in infants presenting with cardiac failure

Rhabdomyomas are the most common cardiac tumours in children. They sometimes cause significant obstruction of the ventricular out flow tracts. We report a series of 3 neonates diagnosed antenatally with multiple rhabdomyomas, who developed significant obstruction of the ventricular outflow tracts following birth. They underwent surgical resection in the neonatal period with good outcome. Antenatal diagnosis of obstructive cardiac tumours allows for planning for appropriate early intervention.     

The echocardiographic findings of cardiac rhabdomyomas in a female patient with tuberous sclerosis and Down's syndrome]

This report described the case of a patient with cardiac rhabdomyomas and tuberous sclerosis (TS), associated with Down's syndrome. Diagnosis of TS was made subsequently to sebaceus adenomas, peri-ungual fibromas and ash leaf macules, mental retardation, epilepsy, renal and cerebral calcification findings. Physical examination, ECG and Holter ECG monitoring revealed normal cardiac findings. Two dimensional echocardiography disclosed the presence of two areas of increased acoustic density; one of which was at the level of postero-medial papillar muscle and the second appeared to be adherent to ventricular septum. Left ventricular size, function and intracavitary blood flow were normal.     

Cardiac rhabdomyoma and apoptosis: are regression controlled by the body?]

Three rhabdomyomas detected in utero regressed after birth. These personal observations and others in medical literature show that regressions are more frequent than it was formerly believed, and are almost always observed during the first two years of life. The same clinical features of these involutions, histological appearances of apoptosis (programmed cell death), and the absence of inflammation suggest that spontaneous regressions may be controlled by the body. Regression of rhabdomyomas may be compared with other observations of benign and malignant tumours which show spontaneous involution in early life. Medical treatment is advisable even in the absence of life-threatening symptoms.     

Isolated bilateral coronary ostial stenosis--an uncommon presentation of aortoarteritis

Cardiac fibromas are benign tumours, often diagnosed in childhood, but rarely they may be diagnosed in adults or the elderly. We present an interesting case of a middle-aged lady presenting with exertional chest pain and breathlessness, who was found to have a heavily calcified mass within the myocardium. With a previous history of chest trauma, a calcified myocardial haematoma was initially suspected. Complete surgical excision led to a total resolution of symptoms. Histological examination confirmed the diagnosis of a cardiac fibroma. Complete excision of cardiac fibromas, where possible, is advised and is associated with excellent survival.     

A rare association of pheochromocytoma and thoracic paraganglioma: utility of 2D contrast enhanced echocardiography

Primary tumours of the heart are rare. Myxomas are the most common primary cardiac tumours with an estimated incidence of 0.5 per million population per year. Myxomas are most commonly found in left atrium and are solitary in more than 90% cases. Familial myxomas are rarer and tend to be multiple. We report a rare case of multiple myxomas in the right heart which occurred sporadically, presenting with an episode of pre-syncope.     

Cardiac papillary fibroelastoma. Experience of an institution

Primary intracardiac tumors are rare, with prevalence between 0.0017% and 0.19% from non-selected autopsy studies. Approximately 75% are benign and almost half of them are myxomas. The remaining tumors are divided among rhabdomyomas, lipomas and fibroelastomas. Myxomas are the most common intracardiac tumors in adult age and rhabdomyomas the most common among pediatric population. Papillary fibroelastoma (PFE) is a relative rare benign heart tumor, corresponding to approximately 8% of intracardiac tumors. They most commonly manifested in cardiac valves. In the past, they either consisted of necropsy findings or were found in surgical procedures at random. In vivo diagnosis was sporadic. With the improvement of echocardiography techniques, PFE has been more frequently diagnosed. They are usually described as a movable, pedunculate, well-delimited mass and with predilection for valve endocardium. Therapeutic proposal, when they are pedunculate, is surgical resection, preventing cerebral, pulmonary, coronary or peripheral embolic phenomena. Five cases diagnosed in our institution, in the period from August 1995 to June 2004, will be presented.     

Cardiac rhabdomyoma: A clinicopathologic and electron microscopic study

Cardiac rhabdomyomas are rare tumors of infancy. In a series of 36 patients 78 percent were under 1 year of age, and only one patient was over age 15 years. Ninety percent of the rhabdomyomas were multiple and occurred with nearly equal frequency in the right and left ventricles. Although reportedly infrequent in the atria, rhabdomyomas involved either one or both atria in 30 percent of patients. In 50 percent of patients at least one of the tumor masses was intracavitary and obstructed 50 percent or more of one of the cardiac chambers or valve orifices. Symptoms referable to obstruction of intracardiac blood flow were present in nine patients, none of whom had tuberous sclerosis, and all of whom would appear to have been good surgical candidates. Histologically the rhabdomyomas were composed of classic “spider cells.” Electron microscopic studies revealed scattered bundles of myofibrils ringing these cells and radiating toward the center; glycogen was present both free in the cytoplasm and within mitochondria. Distinct intercellular junctions resembling intercalated discs with well defined desmosomes and nexuses were present. Many of the cells contained leptofibrils, arranged either peripherally or in spiraled clusters in the center of the cell. Rhabdomyomas derive from cardiac muscle cells and appear to represent hamartomas rather than true tumors.