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PubMed1999

Cardiac neoplasms at the Canadian Reference Centre for Cancer Pathology.

OBJECTIVE: To review the Canadian Reference Centre for Cancer Pathology's experience with cardiac neoplasms by reviewing all cases with tumours involving the heart referred to the Centre from 1949 to 1995. Referred patient records, panel and consensus statement submissions and glass slides were reviewed in all cases. In selected cases additional immunohistochemical stains were obtained from paraffin block tissues. SETTING: National referral centre for difficult or interesting cancer pathology-related cases. PATIENTS: All cases were derived from referral of autopsy material and/or surgically resected neoplasms. Material was referred from 35 patients during 1949 to 1995. The group consisted of 17 males, 17 females and one infant patient in whom the sex was not specified. The patient age ranged from infancy to 85 years. RESULTS: The neoplasms referred consisted of 12 myxomas, 10 sarcomas, five lymphomas, two carcinomas, two papillary fibroelastomas and one each of rhabdomyoma, mesothelioma of the atrioventricular node, lipomatous hypertrophy of the intra-atrial septum and fibroma. The sarcomas were difficult to classify even with the use of additional immunohistochemical stains. All the lymphomas were of non-Hodgkin's type and were not of primary cardiac origin. CONCLUSIONS: The series of neoplasms referred to the Canadian Reference Centre for Cancer Pathology reflects changes in cardiac surgery, cardiac imaging and cardiac pathology as disciplines. Even with modern pathological techniques some cases, especially sarcomas, are still difficult to diagnose. The clinical presentation often reflects the chamber of origin of the neoplasm rather than being indicative of a specific tumour type.

Adolescent↗
PubMed1999

The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and hamartomatous tumors in multiple organs, including subependymal giant cell astrocytomas, cardiac rhabdomyomas, and renal angiomyolipomas. Mutations in two genes are associated with TSC: TSC1, which was cloned in 1997, and TSC2, which was cloned in 1993. We report here the expression of hamartin, the product of the TSC1 gene, in normal human tissues and in renal angiomyolipomas from TSC1- and TSC2-linked patients. By Western blot analysis, hamartin is strongly expressed in brain, kidney, and heart, all of which are frequently affected in TSC. By immunohistochemical analysis, the expression pattern of hamartin in normal human tissues was almost identical to that of tuberin, the product of the TSC2 gene. This is consistent with the recent finding that tuberin and hamartin interact and with the clinical similarity between TSC1- and TSC2-linked disease. Strong hamartin expression was seen in cortical neurons, renal tubular epithelial cells, pancreatic islet cells, bronchial epithelial cells, and pulmonary macrophages. Hamartin was also expressed in endocrine tissues, including islet cells of the pancreas, follicular cells of the thyroid, and the zona reticularis of the adrenal cortex. In eight angiomyolipomas from a TSC1-linked patient, no hamartin expression was detected, whereas tuberin, the product of the TSC2 gene, was expressed. In 19 angiomyolipomas from a TSC2-linked patient, in whose angiomyolipomas loss of tuberin expression had previously been shown, hamartin expression was present. These data suggest that tuberin and hamartin immunoreactivity can distinguish tumors with underlying TSC1 mutations from those with TSC2 mutations. This differentiation might have diagnostic implications.

Angiomyolipoma↗
PubMedDate not supplied

[Tumors of cardiac ventricles (author's transl)].

Clinical and pathological findings are reported in 3 cases of cardiac tumors involving the ventricular septum and free walls. In 2 cases death occurred at ages 4 hours and 3 1/2 years and the pathological study revealed the presence of rhabdomyomas in the heart and tuberous sclerosis in the brain. The cardiac involvement was much more pronounced in the newborn infant than in the 3 1/2-year-old boy. The remaining patient, is a 6-month-old infant who is still alive. An angiocardiographic study performed at age 1 1/2-months revealed the presence of multple filling defects which were localized in the ventricular septum and in the left ventricular free wall. The angiocardiography was indicated on the basis of a previous clinical situation of severe heart failure which had been difficult to bring under control. A discussion is also presented dealing with the most characteristic clinical features of cardiac tumors in infants and children.

Child, Preschool↗
PubMed2002

[Pharyngeal and laryngeal hamartoma: case report].

In this report a case of laryngeal hamartoma is presented. Macroscopically this lesion is quite similar to a tumor but is actually a malformation derived from an error in the development of a healthy organ. Histologically, the hamartoma is composed of a proportionally abnormal mixture of tissues as compared to what is normally present in its anatomic site. The lesion is extremely rare and usually appears in the head and neck district, spleen, pancreas, lung and liver. The diagnosis is essentially based on histological examination. The treatment of choice consists of surgery and periodic follow-up. Differential diagnosis must consider other rare neoplasms such as rhabdomyoma and teratoma.

Female↗
PubMed1992

[Tuberous sclerosis: broadening of the diagnosis using MR tomography and computed tomography].

Ten children and a 22-y old women with tuberous sclerosis were studied. All children were epileptic but only 8 had skin lesions (white spots, sebaceous adenoma), 4 had rhabdomyoma of the heart and 4 children had astrocytoma of the retina; only in 4 children was the entire triad of tuberous sclerosis seen. The young woman with a hemorrhage of an angiolipoma of the kidney had no other symptoms of tuberous sclerosis. All patients had pathologic CT and MRT findings; 4 different types of lesion were seen in MRT. In order to elucidate human genetic aspects and to demonstrate the underlying disease all children with epileptic disorders and also all patients without the full triad of symptoms should be examined by MRT.

Adult↗
PubMed1992

[Prenatal diagnosis of fetal cardiac disease with echocardiography. National Group for Fetal Echocardiography].

UNLABELLED: M-mode, 2DE and PDE were performed on 630 fetuses of high risk pregnancies. Fetal gestation ages ranged from 16 to 41 weeks. 21 cases of fetal heart disease were detected during pregnancy. The detected rate of fetal cardiac disease with echocardiography in high-risk pregnancies was 3.3%. In total 21 cases of fetal cardiac disease including 3 cases of atrial septal defect, 5 ventricular septal defect, 3 fetal non-immuno hydrops with pericardial effusion, 2 atrioventricular canal defect, 2 cardiac tumor (one rhabdomyoma, another lipoblastoma), an endocardial fibroelastosis, pulmonary stenosis, a single atrium with single ventricle, a hypoplastic left ventricle with single atrium and pulmonary atresia, a hypoplastic right ventricle with pulmonary atresia and a truncus arteriosus were found. 19 cases of fetal cardiac disease were confirmed at autopsy and other two by auscultation and echocardiography after delivery. The significant high-risk factors were bradycardia in 6 cases, non-immuno hydrops in 5 cases and virus infection at early pregnancy in 3 cases. CONCLUSION: (1) 2DE and PDE are the most valuable non-invasive technique for detection of fetal structural cardiac abnormalities. (2) Sustained bradycardia, non-immuno hydrops and virus infection at early pregnancy were the significant high-risk factors of fetal heart disease. Fetal non-immuno hydrops may present congestive cardiac failure in the uterus.

Adult↗
PubMed2004

[Application of fetal echocardiography in detection of fetal arrhythmia and its clinical significance].

OBJECTIVE: To investigate application of fetal echocardiography in diagnosis of fetal arrhythmia and its clinical significance. METHODS: Fetal echocardiography was performed on 725 fetuses for evaluation of fetal heart structures and arrhythmias. Two-dimensional, M-mode, Color M-mode and pulsed Doppler echocardiography were used. RESULTS: Ninety fetuses were documented with fetal arrhythmia, the commonest fetal arrhythmia encountered in 72 cases extrasystole was (65 atrial extrasystoles, 7 ventricular extrasystoles), followed by bradycardia in 9 cases, tachycardia in 6 cases, 2:1 atrioventricular block in 2 cases, atrial flutter in 1 case. There were 4 fetuses with arrhythmias and structural heart diseases: 2 fetuses were found died in uterus within two-week follow-up (1 with single ventricle and pulmonary stenosis, 1 with cardiac rhabdomyoma, fetal echocardiographic findings were confirmed at autopsy), another 2 cases (1 with mitral atresia and 1 with atrioventricular canal defect, autopsy confirmed the fetal echocardiographic diagnoses) received termination of pregnancy later. One 38-week fetus with atrial flutter underwent cesarean section, neonatal ECG confirmed the arrhythmia, and Cedilanid D induced successful conversion. All the other 85 fetuses were with intermittent arrhythmia, normal heart structures, and had no fetal hydrops. After receiving routine treatment, all of them had term deliveries and follow-up monitoring showed normal neonatal heart rhythms (auscultation). CONCLUSIONS: Fetal echocardiography is the main diagnostic tool for prenatal evaluation of fetal arrhythmias. The outcomes of the vast majority of fetal arrhythmias are benign, especially for fetuses with extrasystoles. Their arrhythmias are always well tolerated and disappear during the perinatal period. Fetuses with intermittent arrhythmias without structural heart malformations, fetal hydrops or heart failure, can be followed up with routine prenatal care without the need for special intervention.

Adult↗
PubMed2005

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. TSC is caused by mutations in either of two tumor suppressor genes: TSC1 or TSC2. The aim of this study was to analyze the clinical picture of TSC in patients with an identical TSC2 mutation. We tried to discover to what extent we may expect variability in the clinical set of symptoms in patients with identical mutation of TSC2 gene. MATERIAL/METHODS: Mutations were identified in 100 of 170 cases. There were only 4 patients with the same type of TSC2 mutation: 5238-5255 del 18bp, del 1746 HIKRLR. Their ages were 1.5, 9, 9, and 10 years. A standardized clinical assessment of TSC symptoms was used. RESULTS: Epilepsy, depigmented spots, and periventricular calcification and cortical tubers were diagnosed in all the 4 patients, cardiac rhabdomyoma and angiomyolipoma of the kidneys in 3, and mental retardation and forehead fibroma in 2. Other symptoms occurred rarely or were absent. There was variability in TSC symptoms in patients with the identical type of TSC2 mutation. The main symptoms were present in all or in the majority of patients. Clinical picture also differed with the age of patient. CONCLUSIONS: There are many influencing factors contributing to the diversity of the clinical picture and pathology of TSC. Obviously, a greater number of cases are needed for further analysis and more precise conclusions.

Child↗
PubMed1990

[Paratesticular rhabdomyosarcoma].

We report a case of paratesticular rhabdomyosarcoma in a 5-year-old boy who was submitted to radical orchidectomy via the inguinal approach and high ligation of the spermatic cord. Clinical and retroperitoneal staging classify this case under group I of the Intergroup Rhabdomyoma Study. Adjuvan chemotherapy with 12 courses of VAC have achieved a good clinical course to date (14 months after surgery) and a good outcome is predicted. We review the literature and discuss the features of this mesenchymal tumor.

Child, Preschool↗
PubMed1990

[Sudden death caused by a heart tumor].

Primary cardiac tumors in infancy and childhood are extremely rare. In the young age group the clinical symptoms often are variable and can make diagnosis difficult. Depending on the histological character and especially the localisation of the mass the clinical appearance may lead to the first diagnosis or at least to further investigation. While myocardial tumors (rhabdomyomas and fibromas) mainly cause rhythmic disturbances, the intracavitary tumors (like myxomas) frequently disturb hemodynamics. Echo-cardiography is the main diagnostic technique, followed by angiocardiography, computertomography and nuclearmagneticresonance imaging.

Child↗
PubMed1989

[Clinical study of fetal echocardiography].

Fetal echocardiography was studied by PUMC Hospital Xi' an and Harbin Medical University in collaboration. 320 fetuses were examined with M-mode. 2D and pulsed Doppler echocardiograph during one year. 7 cases of congenital heart disease were found including four ASD, one VSD, one complex deformity (single atrium, left ventricle undeveloped and pulmonary arteria) and one heart tumor (rhabdomyoma). Normal fetal echocardiographic and Doppler parameters were detected in 313 normal fetuses. The characteristic of abnormal fetal echo are: (1) The diameter of the arterial and ventricular chambers increased with increasing fetal age. (2) Fetal RV/LV = 1.1, RA greater than or equal to LA. (3) The thickness of the RV free wall is same as that of the LV free wall and septum. The fetal Doppler echo revealed: (1) The peak velocity of pulmonary artery in the early systole. (2) Peak A/Peak E greater than 1 in mitral and tricuspid valves Doppler spectra. The characteristic of fetal echocardiography consists of prominence of the right ventricle and high pulmonary pressure in the fetus.

Echocardiography, Doppler↗
PubMed1989

[Identification of congenital cardiac malformation and in utero arrhythmia by fetal echocardiography].

UNLABELLED: M-mode, 2D and Pulsed Doppler Echocardiography were performed on 111 fetuses of high-risk pregnancies. Fetal gestation ages ranged 16-41 weeks. Six congenital cardiac diseases were detected in utero and confirmed at autopsy in 4 cases, and one by Pulsed Doppler Echocardiography after delivery. These included a rhabdomyoma, an endocardial fibroelastosis with hydrops, a pulmonary stenosis with tricuspid regurgitation, a VSD, a VSD with descending aortic stenosis, an AV canal defect with single atrium and single AV valve with regurgitation. Arrhythmia was diagnosed in 23 fetuses, 9 had transient sinus bradycardia, 8 had premature atrial contraction, 2 had premature ventricular contraction which disappeared after birth, 4 had sustained sinus bradycardia, one of them combined PVC occurring in bigeminy and trigeminy, which continued after birth. These 4 fetuses had congenital heart disease. CONCLUSION: (1) 2 DE and PDE are the most valuable non-invasive technique for detection of fetal structural cardiac abnormalities. (2) M-mode and PDE make correct rhythm diagnosis in fetus. (3) The fetus with transient sinus bradycardia or PAC usually has a favorable prognosis. Sustained bradycardia has a more ominous prognosis, particularly if associated with heart abnormalities. (4) Fetal hydrops may associate with congestive cardiac failure in uterus. The incidence of cardiac disease is high in hydrops.

Adult↗
PubMed1989

[Tumors of the heart and arterial embolisms].

Tumors of the heart are a rare cause of embolism of the peripheral arterial system. A series of 26 patients operated on for heart tumor in the Institute of Cardiovascular Diseases in Bratislava over the years 1979-1988 was analyzed. Pseudomyxoma was histologically verified in 24 patients and rhabdomyoma and rhabdomyosarcoma in the other two patients. A total of 12 embolic events was recorded in 9 patients (34.6%). There were 8 instances of embolism in the central nervous system and 4 in the extremities. In all cases pseudomyxoma of the left parts of the heart was the source of embolism. In 21 cases diagnosis was established and operation indicated on the basis of ultrasonographic evidence. The authors recommend the biatrial transseptal approach. Early surgical removal of a heart tumor is the therapy of choice which prevents the development of potential complications from the heart and peripheral arteries.

Adolescent↗
PubMed1986

[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.

Adult↗
PubMed1988

MRI as an adjunct to echocardiography for the diagnostic imaging of cardiac masses.

Nine patients underwent magnetic resonance imaging (MRI) as part of the diagnostic evaluation for cardiac masses; eight of them had been preliminarily studied by 2D-echocardiography (US). MRI did not add to the US diagnostic information in patients affected by intracavitary masses. It represented the definitive diagnostic modality in two patients with intramural pathology: one with ventricular rhabdomyoma, the second with an echinococcyal cyst located within the left atrial wall. The complementary role of MRI to US in cardiac masses is discussed.

Adolescent↗
PubMed1988

Diagnosis of rhabdomyosarcomas with HHF35, a monoclonal antibody directed against muscle actins.

The authors have recently developed a monoclonal antibody, HHF35, that recognizes the muscle-specific isoforms of actin. To determine its potential usefulness in the differential diagnosis of "small, round, blue cell" tumors of childhood, they immunolabeled formalinor B-5-fixed tissue sections from known cases of rhabdomyosarcoma or rhabdomyoma (30), neuroblastoma (9), retinoblastoma (2), and Ewing's sarcoma (9) with HHF35 and with antibodies to creatine kinase M, myoglobin, vimentin, and neuron-specific enolase. HHF35 reacted with 29 of 30 cases of rhabdomyosarcoma, whereas antibodies to creatine kinase M and myoglobin were positive on only 12 and 7 tumors, respectively. HHF35 did not react with any case of neuroblastoma, retinoblastoma, or Ewing's sarcoma when the antibody diluent contained 50 mM EDTA. These results indicate that HHF35 is a highly sensitive and specific marker for myogenic differentiation and that it will be useful in the differential diagnosis of rhabdomyosarcomas.

Actins↗
PubMed1985

Definitive operation for refractory cardiac tachyarrhythmias in children.

A total of 114 children (age range 4 months to 18 years) underwent definitive operation for life-threatening or incessant tachydysrhythmias resulting from accessory conduction pathways (Kent bundle) (79), atrial ectopic foci (18), or ventricular ectopic foci (17). Of the patients with the accessory pathway type of supraventricular tachycardia, 63.3% (50/79) had classical Wolff-Parkinson-White syndrome whereas 36.7% (29/79) had retrograde conduction only across the pathway. Locations of the pathways were as follows: left posterior 48.1% (38/79), right anterior or lateral 27.8% (22/79), posterior septal 16.5% (13/79), anterior septal 3.8% (3/79), and both right and left 3.8% (3/79). With increasing experience, the success rate (cure of tachycardia) improved from 85% in the first 40 patients to 95% in the last 40 patients. One surgical death (1.3%) occurred secondary to a paradoxical air embolus. Atrial ectopic tachycardia was treated by cryoablation (nine), excision (one), combined excision and cryoablation (six), and atrial disconnection (two). The ectopic focus was located on the right atrial wall in 13 patients (72.2%) and cardiopulmonary bypass was required in eight (44.4%). The operation was successful in 89%; two patients with multiple ectopic foci continued to have uncontrolled tachycardia after the operation. Ventricular tachycardia presenting in the first 2 years of life was due to gross tumor in three cases (rhabdomyoma two, fibroma one) or microscopic hamartomatous change (Purkinje tumor) in five cases and was treated by excision alone or with adjuvant cryoablation. In four cases no tumor was found but the area of ectopic focus was successfully cryoablated. One child with diffuse endocardial tumor died of low cardiac output after the operation. Ventricular tachycardia in older children was localized to outflow patch aneurysms or other areas in the right ventricle following tetralogy of Fallot repair (three patients, treated by excision or cryoablation) and arrhythmogenic right ventricular dysplasia (two patients, treated by right ventricular disconnection). We conclude that mapping and operation for supraventricular tachycardia resulting from accessory pathways are predictable and curative in a high percentage of patients. Atrial ectopic tachycardias are more difficult to precisely localize but can be cured by a combination of excisional and cryoablative techniques. Ventricular tachycardia in infants is lethal and is commonly due to ectopic foci or microscopic tumors that may not be apparent on preoperative angiography or echocardiography. Electrophysiologically directed operations in these patients can be lifesaving.

Adolescent↗