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Three children with cardiac tumors are described: a 12-year-old female child who had left atrial myxoma, and two males having rhabdomyoma of the right ventricle associated with tuberous sclerosis. The child with left atrial myxoma was symptomatic and the tumour was subsequently excised. The other two children with rhabdomyoma were managed conservatively.
Hamartomas of the hypopharynx are rare. Detailed microscopic study is necessary to differentiate these tumors from the adult-type rhabdomyoma, pleomorphic rhabdomyosarcoma, and granular cell tumor. To our knowledge, our case of a hypopharyngeal rhabdomyomatous hamartoma removed by a lateral pharyngotomy is the only verified hypopharyngeal case in the literature, although a lesion reported by H. W. Smith in 1959 as a laryngeal rhabdomyoma most probably represents a rhabdomyomatous hamartoma, similar to that of the present case.
Massive myocardial calcifications were detected by antenatal ultrasound examination in four second-trimester fetuses. In one fetus, multiple cardiac rhabdomyomas were the initial diagnosis. One fetus presented with arthrogryposis and the brain and spinal cord showed severe hypoxic-ischemic damage. One fetus was hydropic and had severe cardiac malformations. The fourth fetus had congenital heart block and maternal serum was positive for anti-Ro and anti-La antibodies. Myocardial calcifications in the first three fetuses were most likely to be caused by hypoxic-ischemic damage to the heart, and immunological mechanisms were responsible in the other fetus. Antenatally detected myocardial echogenic foci in a fetus leading to a termination of pregnancy or associated with fetal death should be investigated with a full postmortem examination. It is important to confirm the presence of calcifications as distinct from a rhabdomyoma as genetic counseling is completely different. The demonstration of associated lesions in other organs also helps to explain the pathogenesis underlying this condition.
The clinical and pathological findings of three patients with hamartomas of mature cardiac myocytes resembling localized hypertrophic cardiomyopathy are presented. Hypertrophic cardiomyopathy is manifest by a poorly demarcated area of cardiac hypertrophy, microscopically demonstrating myofiber disarray and intramural coronary thickening. Localized, nonencapsulated masses of hypertrophied cardiac myocytes in locations other than the left ventricle or ventricular septum have not been reported. The clinical and pathological data of three patients with localized hamartomas were retrospectively retrieved. The patients were 9, 22, and 28 years old, respectively; none had a known family history of heart disease or cardiomyopathy. Two patients had cardiac arrhythmias: one patient died suddenly, and one patient had the Wolff-Parkinson-White syndrome. The third patient was asymptomatic. Two patients treated surgically had single masses in the right atrium and right ventricle, respectively. The patient who died suddenly had multiple discrete masses throughout the atrial and ventricular myocardium, including the left ventricular free wall. None of the three patients had septal asymmetry suggestive of hypertrophic cardiomyopathy. Histologically, there were discrete but unencapsulated nodules of marked myocyte hypertrophy with disorganization, focal scarring, and thickened intramural arteries. There was no myocyte vacuolization suggestive of cardiac rhabdomyoma. Ultrastructurally, the myocytes showed abundant and disorganized myofilaments and normal intercellular junctions. Hamartoma of mature cardiac myocytes is a previously undescribed cardiac tumor that shares some features of hypertrophic cardiomyopathy and rhabdomyoma, but is currently best considered a separate entity.
BACKGROUND: Tuberous sclerosis (TS) is a hamartomatous disease that usually presents with cutaneous and intracranial lesions, but can also affect other organ systems. METHODS: In this report, we retrospectively reviewed the perioperative course of 24 children with TS who had medically intractable seizures as the primary disease process. RESULTS: Cardiac rhabdomyoma was detected in 11 of 18 patients who had a cardiac evaluation, and coexisting congenital heart defects were diagnosed in six. Ten of 17 patients who had a renal evaluation were diagnosed with renal TS, presenting with azotaemia in one and hypertension in four. The major perioperative complications in the 52 anaesthetics, included death (a neonate after cardiac rhabdomyoma resection), seizures (five patients) and bradyarrhythmias (two patients). CONCLUSIONS: Patients with TS and neurological disorders frequently have coexisting cardiac and renal disease as well. Patients with TS should be evaluated for these organ specific disorders prior to surgery.
BACKGROUND: Crystal storing histiocytosis (CSH) imitating rhabdomyoma is a very rare disease entity involving different tissues. The skin is involved in extremely rare cases. OBJECTIVES: To describe the clinical and histopathological characteristics in a patient with unusually extensive skin involvement. OBSERVATIONS: A 62-year-old woman presented with a large red infiltrated verrucosus lesion on the anterior aspect of the chest and on the neck. The skin biopsy revealed histiocytes throughout the whole dermis containing thin crystalloid structures in the cytoplasm. Upon histopathological examination, crystal-storing histiocytosis was diagnosed and consequently a hematological examination revealed multiple myeloma IgG Kappa. Skin involvement by CSH proceeded the diagnosis of multiple myeloma by 4 years. CONCLUSIONS: Phagocytosis of crystals of immunoglobulins by histiocytes (crystals storing histiocytosis) is a rare symptom associated most often with lymphoproliferative disease. The clinical picture is not characteristic, in the histopathologic picture it is striking similarity to rhabdomyoma. The skin involvement by crystal storing histiocytosis can be the first symptom of malignant lymphoma that can proceed the hematological malignancy by years.
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by seizures, mental retardation, and benign tumors of many organs, including the brain, kidneys, skin, retina, and heart. TSC is caused by mutations in the TSC1 and TSC2 tumor suppressor genes. The genes follow the two-hit model for tumorigenesis, with germline mutations inactivating one allele and somatic mutations inactivating the remaining wild-type allele. Allelic loss (also called loss of heterozygosity [LOH]) in the 9q34 and 16p13 regions has been found in many tumor types from TSC patients. Cardiac rhabdomyomas are frequently found in infants with TSC. Because rhabdomyomas often spontaneously regress, access to fresh tissue is limited. In this chapter, we present methodology for detection of genetic inactivation of TSC1 and TSC2 in paraffin-embedded archival tissues. The template DNA is obtained either by direct scraping of tissue or after laser capture microdissection. LOH analysis is performed after polymerase chain reaction amplification of microsatellite markers in the 9q34 and 16p13 regions and denaturing polyacrylamide gel electrophoresis. Mutation detection is performed using single-strand conformation polymorphisms on mutation detection enhancement gels. Finally, variant bands are amplified and analyzed by direct sequencing.
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.
Primary cardiac tumours are rarities in infants and children. We have had 6 patients, aged 17 days to 10 years, with primary cardiac tumours: 1 had a fibroma, 1 had a myxoma, 2 had an haemangioma and 2 had a rhabdomyoma. Correct diagnosis was missed pre-operatively in 3 cases and finally established at autopsy. Three of the patients underwent cardiac operation-one of them unsuccessfully. At surgery the main difficulties were with tumour infiltration and the multifocal nature of some tumours. We conclude that the echo- and angiocardiography are essential tools in the diagnosis of primary cardiac tumours. Large tumours or conduction tissue infiltration means an extremely poor prognosis. Multifocal cardiac tumours can be successfully removed, even in newborn babies, and the outcome for the patients is also affected by other important factors, e.g. tuberous sclerosis in rhabdomyomas.
Tuberous sclerosis is characterized by the potential for hamartomatous growth in multiple organs. Common manifestations are hypomelanotic spots, facial angiofibromas, subependymal hamartomas, cortical tubers, cardiac rhabdomyomas, retinal hamartomas, and so on. Seizures and mental retardation are frequent. It is an autosomal dominant disease but there is a high percentage of spontaneous mutations. Neonatal diagnosis is exceptional. We report a case of a female term newborn who presented partial motor seizures at the third day of life. Physical examination revealed only a disturbance of cardiac rhythm. Echocardiography showed ventricular intramural rhabdomyomas. Magnetic resonance imaging disclosed periventricular subependymal nodules and cortical tubers. A retinal hamartoma was found in the right eye. At the age of 1 month, hypomelanotic spots were evident on the back skin. The patient had infantile spasms, followed by poorly controlled partial complex seizures together with severe psychomotor retardation. Examination of both parents was normal. We discuss the uncommon diagnosis of tuberous sclerosis during the neonatal period, as well as the exceptional mode of presentation of our patient, with seizures in the early neonatal period, a phenomenon rarely reported in the literature.
Numerous hard cortical nodules, a large subependymal giant-cell astrocytoma and a massive rhabdomyoma were described in a hydropic infant of 31 weeks gestation who lived only four hours. With six other documented cases, tuberous sclerosis in premature infants was reviewed in the hope to pinpoint the early lesions in the CNS and heart. Three premature infants including the present case with tuberous sclerosis presented as hydrops fetalis, and all three had a massive rhabdomyoma. Immunohistochemistry on the CNS lesions disclosed aggregates of bizarre giant cells, which concomitantly expressed epitopes for astroglial, oligodendroglial and neuronal phenotypes in the subpial, cortical, subcortical and subependymal zones. The findings strongly indicate that hamartomatous differentiation of pluripotential germinal neuroglia in the subependymal layer establishes early in the gestational stage and causes aberrant and/or arrested migration towards the cortical surfaces.
We examined 10 patients with cardiovascular masses using 0.15 tesla permanent magnetic resonance imaging (MRI) incorporating an ECG-gated spin echo technique, and investigated the usefulness of MRI in the noninvasive diagnosis of cardiovascular masses. Patients were one with rhabdomyoma, one with leiomyosarcoma, one with malignant mesothelioma (diffuse type), three with pulmonary arterial invasions by lung carcinoma, one with left atrial invasion by lung carcinoma, and three with the superior vena cava (SVC) syndrome. 1. Each image obtained with TE of 40 msec, and TR of one R-R interval clearly defined the mass by its intermediate signal intensity. 2. In the case of rhabdomyoma occupying the right ventricle, leiomyosarcoma growing from the inferior vena cava into the right atrium and malignant mesothelioma diffusely invading the mediastinum, the morphology and the extent of each mass in relation to the surrounding structures were distinctly identified in the coronal, sagittal or oblique sections for situation, in addition to the routine transaxial section. 3. In the cases of pulmonary arterial invasion by lung carcinoma and the SVC syndrome, the masses invading the pulmonary artery or narrowing large vessels were clearly separated from adjacent structures on the sections through each of the large vessels. 4. In the case without left atrial invasion, which was proved by autopsy, a high intensity line due to mediastinal fat demarcated the mass distinctly. This finding is a useful sign for evaluating the extension of a tumor. 5. The image obtained with TE of 80 msec, and TR of double R-R interval (long SE image) showed a different contrast from the image obtained with TE of 40 msec and TR of one R-R interval. Leiomyosarcoma had a more heterogenous intensity on the long SE image which may result from a different T2 value caused by necrotic, edematous or fibrotic changes within the tumor. These results indicate that MRI also provides some information about the differentiation between benign and malignant masses.
The discovery of a tumour of the heart on fetal ultrasound is a rare event. 60% of heart tumours in the fetus are rhabdomyomas. 50% of rhabdomyomas are associated with Bourneville's tuberous sclerosis. The inherited element of the effect of the gene is variable but often severe (75% of patients die before the age of 25 and 60-80% are disabled). Tuberous sclerosis Bourneville is a multifocal pathological condition of which only the presence of rhabdomyomata in the heart make it possible to diagnose the condition antenatally. Monitoring the fetus consists of looking carefully for the complications that can occur and of planning the health care of the newborn including the need to consider surgical intervention at birth.
We have shown earlier that the association of v-myc and v-erbA (MAHEVA construct) is responsible for the appearance of a specific phenotype in chick embryos inoculated at E3. This phenotype comprises rapidly growing heart rhabdomyomas (induced by v-myc alone) and within these tumors secondarily appearing cartilage nodules (Bachnou et al., Oncogene 6: 1041-1047, 1991). Here we report that v-erbA can be replaced by thyroid deficiency. When decapitated embryos were inoculated with virus MC29 (v-myc alone) or when v-myc inoculated embryos were treated with thiourea, 100% of the embryos reaching E17 to E19 displayed tumoral hearts bearing cartilage nodules. We thus report in vivo evidence that v-erbA acts by antagonizing the effects of thyroid hormones. Remarkably, thyroid deficiency rendered embryos more sensitive to the effect of v-myc, since 100% developed heart rhabdomyomas and cartilage nodules, versus about 70% affected when either v-myc or MAHEVA were inoculated. Thyroid deficiency did not alter the species-specific character of transdifferentiation, since only chick but not quail embryos developed cartilage nodules after thyroidectomy or MAHEVA infection.
Seven cases of vaginal polyps with atypical stromal cells were investigated. Three of the cases were classified as vaginal rhabdomyoma and four as fibroepithelial polyps with atypical stromal cells. All of the patients were adult women with minor or no symptoms. None of the tumor recurred or metastasized. The recognition of the vaginal polyps with bizarre stromal cells is important in order to avoid misdiagnosis of sarcoma, particularly botryoid rhabdomyosarcoma.
Tumors arising in the parapharyngeal space are rare. Even more rare are those which originate from the pharyngeal and parapharyngeal musculature. Three examples of muscle tumors presenting as parapharyngeal masses are reported, ie, a rhabdomyoma, rhabdomyosarcoma, and a leiomyosarcoma, and the literature pertaining to these tumors is reviewed. To the best of our knowledge, this represents the first case of a parapharyngeal leiomyosarcoma reported in the literature.
Fetal echocardiography was used to identify a cardiac rhabdomyoma in the second trimester. The combination of this finding with a maternal history of Tuberous Sclerosis allowed the patient and her family to make a more educated decision regarding termination of the pregnancy. Post mortem examination of the fetus confirmed the prenatal findings. This case report demonstrates the importance of ultrasound evaluation of the fetus at risk of recurrence of a genetic syndrome in which one or more anatomical defects might be seen.
A sporadic case of tuberous sclerosis in a stillborn infant is reported. The death at the 31st week of gestation was presumably due to the development of enormous rhabdomyomas of the heart. The typical cerebral lesions were fully developed as in patients decreased later in life. The atypical cells found in the cortical tubers demonstrated ultractructural features of reactive astrocytes. Moreover, they showed innumerable microvillilike projections on their surface and junctional complexes, mostly of the zonula adharens type, reminescent of ependymocytes. The significance of such glio-epithelial cellular features is discussed.