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We describe a unique case of a child who, since birth, has had a heart tumor at the atrioventricular junction associated with second degree atrioventricular block. The tumor is probably a rhabdomyoma.
Tuberous sclerosis complex (TSC) is a genetically heterogeneous disease caused by mutations of TSC1 or TSC2 genes. It involves multiple organ systems resulting in mild to lethal hamartoma formation due to gene mutation in the germ line and loss of heterozygosity (LOH) in somatic cells. Hamartin (TSC1) and tuberin (TSC2) are expressed broadly. However, little is known about tissue susceptibility to hamartomas when equal or similar amounts of TSC gene expression are present. In this study, we present a 19-week gestational age fetus with pathological features of TSC, which was confirmed by finding LOH of TSC2 in a cardiac rhabdomyoma. Developmental expression of hamartin and tuberin in the TSC fetus, an age-matched non-TSC fetus, and a 26-week gestational age non-TSC fetus were analyzed by immunohistochemistry. We found that in addition to the differential expression of the TSC genes in some normal tissues compared with that in the TSC-affected fetus, the cellular localization and distribution of hamartin and tuberin were dramatically different in different tissues. In general, hamartin and tuberin are mainly expressed in epithelial cells, myocytes, and neural tissues. By comparing the incidence of the hamartomas in early childhood and gene expression in tissues, it appears that tissues with co-expression of hamartin and tuberin are prone to a higher incidence of hamartomas than those expressing only one protein, or two proteins but in different patterns of cellular localization.
Four patients with space-occupying myocardial lesions were studied using electronically focused high-resolution two-dimensional echocardiography. In two patients with clusters of high-intensity echoes at various depths on the epicardial surface, histology confirmed the diagnosis of lymphosarcoma, showing patchy, malignant infiltrates of different thickness. The remaining two patients had very different features: the lesions appeared to be intrinsic to the posterior left ventricular wall. One patient who had arrhythmias and a small encapsulated noncontractile mass had a histologically proved rhabdomyoma. In the second patient fibroma was histologically confirmed. In these two patients the position of the lesions was confirmed by angiocardiography. Two-dimensional echocardiography greatly improved delineation of space-occupying cardiac masses and is an accurate method for confirming the presence of such lesions.
A dilated cardiomyopathy picture has been produced by rapid atrial and ventricular rates sustained for a long period of time in some patients. The ventricular tachycardias have in some instances been associated with ventricular tumors as the cause of the tachycardia. Once the tumor is removed, the tachycardia stops and the heart function improves. Atrial ectopic tachycardias also produce a similar picture, but have not been associated with atrial tumors. Such a case is presented with an atrial rhabdomyoma producing atrial ectopic tachycardia and a dilated, poorly contracting myocardium. The tumor was resected and the tachycardia was immediately abolished. Cardiac function quickly returned to normal.
A large intracavitary right ventricular tumor in a 24-year-old patient was considered nonresectable because it involved the interventricular septum, the free ventricular walls, and the tricuspid valve. Surgical palliation consisted of closure of the tricuspid and pulmonary valves, and the right atrium was anastomosed to the pulmonary artery bifurcation. The patient is asymptomatic 7 years after operation, and the neoplasm (a rhabdomyoma) has not increased in size.
BACKGROUND: Heart tumors are rare lesions with variegated histological types. Their clinicopathological features could be more comprehensively categorized. METHODS: This is a 19-year retrospective study of 17 infants/toddlers (<2 years of age) and 42 patients aged between 14 and 79 years (mean = 51.5) in a surgical center. RESULTS: Congenital tumors (n = 17; 29%), including rhabdomyomas (n = 9), ventricular fibromas (n = 6), and hemangiomas (n = 1), required surgery mainly because of mass effect. Familial myofibromatosis was the only embolic congenital lesion. Acquired benign tumors (n = 28; 47%) included myxomas (n = 21), fibroelastomas (n = 3), myofibroblastic inflammatory tumors (n = 2), and lipomas (n = 2). Eight (29%) were revealed by systemic embolization. These benign noncongenital tumors were all treated by complete resection, except for an incompletely resected lipoma of the mitral valve. Postoperative arrhythmia (n = 1) and pericardial effusion (n = 3) were the only complications. Primary sarcomas (n = 8; 14%) were mostly vascular tumors (five of eight), and patients with high-grade tumors had a mean survival of 15 months (n = 5). Cardiac metastases (n = 6; 10%) were from carcinomas (n = 3) or sarcomas (n = 3); apart from a necrotic metastasis, all patients died (mean survival of 6 months). CONCLUSIONS: This study shows that, regardless of patients' age, heart tumors can be classified as: (a) congenital lesions, which are spontaneously nonprogressive or regressive lesions possibly requiring surgery mainly because of mass effect; (b) acquired benign tumors, which are lesions requiring surgery often because of embolization risk; and (c) primary and secondary malignant tumors, which are lesions with globally poor prognosis but with some indications for resection.
We report on the ultrasound characteristics of two different intracardiac tumors in newborns. The first infant presented with multiple rhabdomyomas in the context of tuberous sclerosis. Ultrasound-based strain and strain rate analysis showed that the tumors deformed in the opposite direction from the surrounding myocardial segments. The second child presented with a large cardiac fibroma as confirmed by pathological examination. In this case strain and strain rate analysis showed the absence of deformation in the tumor. These findings suggest that this new technique could be used to differentiate between different types of myocardial tumors.
A hydatid cyst in the ventricular septum was diagnosed with echocardiography in a child with abdominal echinococcosis. The finding was confirmed with cardiac catheterization, cineangiography and surgical removal and pathologic examination of the cyst. The echocardiographic features of the fluid-filled hydatid cyst are contrasted with those of solid left ventricular tumor (rhabdomyoma) in a newborn.
Of the 355 patients with tuberous sclerosis complex (TSC) examined at the Mayo Clinic, 49 had died (9 of causes other than TSC). We attempted to determine what pattern of organ involvement occurred most often in the 40 patients who died of TSC. One baby died of cardiac failure due to cardiac rhabdomyomas, and one child died of rupture of an aneurysm of the thoracic aorta. Eleven patients died of renal disease, which was the commonest cause of death. Ten patients died as a result of brain tumors, and four patients (who were 40 years of age or older) died of lymphangiomyomatosis of the lung. Thirteen patients with severe mental handicaps died of either status epilepticus or bronchopneumonia; in all but one of these patients, the only source of information was the death certificate. Survival curves show a decreased survival for patients with TSC in comparison with that for the general population. Patients with TSC need lifelong follow-up for early detection of potentially life-threatening complications.
Intracardiac masses in infancy are uncommon. Tumors, thrombi and vegetations of bacterial endocarditis are exceedingly rare in this age group. These masses are seldom diagnosed before the infant's death. In a review of two-dimensional echocardiograms performed from May 1979 to January 1981 on 741 infants less than 2 years of age, intracardiac masses were prospectively identified in 6 patients. All six patients presented with unexplained murmurs associated with either hemodynamic instability, arrhythmias or systemic emboli. One patient had a vegetation from bacterial endocarditis, one had an intracardiac thrombus associated with myocarditis, three had rhabdomyomas (two patients with tuberous sclerosis) and one had a fibro-fatty nodule attached to the eustachian valve. Two-dimensional echocardiography not only was important in the diagnosis, but also provided guidance in the medical and surgical treatment of these patients.
The two-dimensional echocardiographic diagnosis of multiple cardiac rhabdomyomas and evaluation of tachycardia in a fetus are presented. Prenatal echocardiographic examination defined the extent of tumor involvement and mechanism of the tachycardia and demonstrated the lack of fetal hemodynamic compromise. Perinatal, clinical and therapeutic implications are discussed.
OBJECTIVE: Retrospective study of surgical pathology experience on cardiac and pericardial tumors at the University of Padua in the era of immunohistochemistry and endomyocardial biopsy. METHODS: In the period 1970-1995, we studied 125 bioptic primary neoplasms: specimens were obtained from surgical resection in 116 cases, heart transplantation in 3, pericardiectomy in 3, endomyocardial biopsy in 2 and thoracoscopic biopsy in 1. Tumor histotype was established by light microscopy and more recently by immuno-histochemistry, using a large panel of antibodies, through avidin-biotin peroxidase method, against factor VIII-related antigen, ulex-europaeus, desmin, myoglobin, muscle-specific actin, smooth muscle-specific actin, vimentin, cytokeratins, leukocytic common antigen, neurofilaments and S100-protein. RESULTS: One hundred and thirteen were benign neoplasms: myxoma was the most frequent (87 cases) followed by pericardial cyst (8), endocardial papilloma (5), fibroma (3), rhabdomyoma (3), hematic cyst (2), teratoma (2), hemangioma (1), celothelioma (1) and lipoma (1). Malignancy was diagnosed in 12 cases, and consisted of pericardial mesothelioma (3), myxosarcoma (3), angiosarcoma (2), fibrosarcoma (2) and leiomyosarcoma (2); 4 of them were intracavitary atrial masses and were supposed to be atrial myxoma on the clinical ground. Differential diagnosis included endocardial thrombosis (10), metastasis of concealed extracardiac tumors (5), echinococcosis (3), and Loeffler's fibroplastic endocarditis (3). In 4 cases, cardiac mass histotype was defined without thoracotomy, through endomyocardial (3) and thoracoscopic (1) biopsy. CONCLUSIONS: A large spectrum of cardiac tumors is observed in the surgical pathology practice. Although the diagnosis of cardiac masses is easily attainable by routine imaging techniques, differential diagnosis between primary and secondary tumors, malignant and benign forms, and non neoplastic masses, is achievable only by a thorough microscopic study of surgical resections. The role of the cardiac pathologist is becoming crucial as in other fields of oncology.
OBJECTIVE: To review the presentation, diagnosis, histology and outcome of primary cardiac tumours presenting to a paediatric cardiac unit over a 20-year period. METHODS: Hospital records and data bases were searched for the years 1980-2000. RESULTS: There were 12 patients with four histological tumour types including a predominance of rhabdomyoma, as well as myxoma, fibroma and myocardial hamartoma. Diagnosis was made in utero, by ultrasound in five cases and in the neonatal period in a further three cases. Six cases (50%) required surgical intervention and there were three tumour-related deaths. Two infants with large left ventricular tumours diagnosed in utero developed univentricular physiology, acting like hypoplastic left heart syndrome at birth. CONCLUSIONS: Despite an absence of malignant histology there was significant mortality and morbidity among the patients reviewed. The development of univentricular physiology in infants with large left ventricular tumours is rare and is a difficult management problem.
We report a newborn, diagnosed prenatally with both cardiac rhabdomyomas and a brain tumor. To the best of our knowledge, this is the first report of central nervous system (CNS) lesions detected prenatally in a child with tuberous sclerosis with term follow-up. At 36 months, the child has normal growth and is developing appropriately. Thus the finding of CNS tumors on fetal ultrasound examination can help in the prenatal diagnosis of tuberous sclerosis but does not necessarily indicate a poor prognosis.
Primary tumors of the heart, with the exception of atrial myxomas, occur rarely; tumors metastatic to or directly invasive of the heart are far more common. About 75% of primary tumors are benign, and 75% of these are atrial myxomas. The benign tumors include rhabdomyomas, fibromas, papillary fibroelastomas, hemangiomas, pericardial cysts, lipomas, hamartomas, teratomas, mesotheliomas, and paragangliomas or pheochromocytomas. The last 3 may also be malignant. The malignant tumors consist of various sarcomas: myxosarcoma, liposarcoma, angiosarcoma, fibrosarcoma, leiomyosarcoma, osteosarcoma, synovial sarcoma, rhabdomyosarcoma, undifferentiated sarcoma, reticulum cell sarcoma, neurofibrosarcoma, and malignant fibrous histiocytoma. Cardiac tumors produce a large variety of symptoms through any of 4 mechanisms. Their mass can obstruct intracardiac blood flow or interfere with valve function. Local invasion can lead to arrhythmias or pericardial effusions with tamponade. Bits of tumor can embolize, causing systemic deficits when the tumors are on the left side of the heart. Finally, the tumors may cause systemic or constitutional symptoms. Some tumors, of course, produce no symptoms and become evident as incidental findings. The most useful diagnostic tool is the echocardiogram, which in almost all cases precisely locates the tumor and defines its extent. The echocardiographic appearance may also allow quite accurate prediction of the tumor type and whether it is malignant or benign. Magnetic resonance imaging serves as the next most important test where the density of T1 and T2 images may allow tumor cell type identification. With few exceptions, these tumors require operative excision. Most benign tumors can be resected completely; a few, because of their large size, cannot be, and only tumor debulking may be possible. Heart transplantation should be considered for these patients. Many of the malignant tumors cannot be resected completely, either because of the extent of local spread and invasion or because of the frequent distant metastases. Transplantation may also be an option for those with extensive local disease. The long-term results for resected benign tumors are excellent; the long-term results for sarcomas are very poor, and there are few survivors. For patients with unresectable sarcomas, radiation and chemotherapy may be used, but without great expectation of successful results.
In the last 25 years, there have been extraordinary advances and new developments in diagnosis and surgical treatment for cardiac tumors. New diagnostic methods have almost replaced the need for cardiac catheterization and ventriculography. During cardiopulmonary bypass the myocardium can be protected by means of hypothermia and cardioplegia. Various techniques have been developed to excise cardiac tumors. Depending upon the site and the extent of the neoplasm, additional cardiac repair may be required, including bypass grafting or valve replacement. Primary tumors of the heart are usually intracavitary lesions and more than 75% are benign. Myxomas are the most common cardiac tumors. They are usually attached to the intraatrial septum in the left atrium close to the fossa ovalis. Left atrial myxomas must be distinguished from mitral valve disease, since the clinical presentation may suggest rheumatic feaver and acute myocarditis. Since 1957 we have operated upon 71 patients with myxomas with no deaths. Removal of a myxoma should be undertaken more aggressively and thoroughly than formerly was recommended. Rhabdomyomas are usually multiple tumors, and most often they involve the ventricular myocardium. Because these tumors do not grow rapidly, surgical resection can be successful. It the tumor is large, it can be partially resected to release the obstruction. We have operated upon 3 patients with this tumor. Cardiac fibromas are the second most common tumor in infants and children. These are usually solitary tumors which compress the surrounding structures as they grow. Complete excision of fibromas is difficult since the tumors tend to grow large. We have operated upon 11 patients with this tumor.(ABSTRACT TRUNCATED AT 250 WORDS)
A teratoma of the cardiac skeleton, a rhabdomyoma of the right ventricle and an intramural fibroma in the left ventricle were observed in three children, aged eight weeks, eight months and eight years, respectively. Atrial myxoma was found in a 42-year-old and a 49-year-old patient. History and symptoms showed no particular common features in the various patients, merely signs of flow obstruction in four of the five patients. Amongst specific cardiological diagnostic methods only angiocardiography was reliable in the demonstration of intra- or paracardiac space-occupying lesions. All five patients were successfully operated on under cardiopulmonary bypass. The surgical technique varied according to localisation, extent of the tumour and its site in relation to essential cardiac structures. Follow-up examination indicated that the patients were free of symptoms and recurrence.
A case of antenatal tuberous sclerosis was diagnosed by ultrasonography. Intracardiac tumour (highly suspected rhabdomyoma) with transitory heart failure and multiple brain lesions were observed. After delivery, echocardiography, spiral CT and MR imaging diagnosis of tuberous sclerosis was confirmed by typical skin lesions (depigmented macules) and development of seizures.