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PubMed2005

Cardiac rhabdomyoma with tuberous sclerosis: a case report.

BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.

Adult↗
PubMed1988

Extracardiac rhabdomyoma: An immunocytochemical study and review of the literature.

Two cases of 'adult' rhabdomyoma and 2 of 'fetal' rhabdomyoma have been immunologically studied using several antisera specific of skeletal muscle fibers proteins. This paper also deals with a review of the literature on these rare benign skeletal muscle proliferations. It is concluded that 'adult' rhabdomyoma contains fetal myosin and therefore the term 'adult' does not seem immunologically appropriate any longer. In addition the tumoral cells show the same level of differentiation as seen in neonatal skeletal muscle. Therefore it seems that the definition of neonatal rhabdomyoma is more appropriate for these benign muscular proliferations. The 2 cases of fetal rhabdomyoma appear phenotypically similar to normally developing myoblasts and contain fetal myosin. Therefore it seems that the definition 'fetal' is here appropriate for what appears to be a disorganized proliferation of otherwise normal fetal skeletal muscle fibers. The differential diagnosis between these latter tumors and rhabdomyosarcomas has been discussed.

Adult↗
PubMed1987

[Cardiac rhabdomyoma in the adult. Echocardiographic diagnosis and successful surgical treatment].

Cardiac rhabdomyoma is a rare tumour (190 cases in the literature). Since the first operation, in 1959, the tumour has been removed in about 30 patients. Our case is the first cardiac rhabdomyoma diagnosed in live adults. The patient was a 59-year old woman without any significant history. Echocardiography showed a single tumour in the right atrium. A tentative diagnosis of myxoma was made and the patient was operated upon. At pathology, the tumour turned out to be a rhabdomyoma. After a 2.5-year follow-up period, the patient remains asymptomatic. Cardiac rhabdomyoma almost exclusively occurs in children. Only six adult cases have been published, all diagnosed at autopsy. Cardiac symptoms are either those of a valve disease or arrhythmias. Treatment is surgical for single tumours. Multiple rhabdomyomas are associated with Bourneville's disease (tuberous sclerosis) in 50 p. 100 of the cases, which entails a sombre prognosis. In our patient, the presence of a single tumour at the age of 59 without any sign of tuberous sclerosis and the fact that the tumour could be entirely removed were factors of favourable prognosis.

Echocardiography↗
PubMed2000

Echocardiographic evaluation of cardiac rhabdomyoma in infants and children.

PURPOSE: The objective of this study was to demonstrate the clinical presentation, echocardiographic findings, and morbidity and mortality rates for cardiac rhabdomyoma in Chinese infants and children by using echocardiography. METHODS: Two-dimensional echocardiography was performed at our institution from 1992 through 1999 on 12,800 children under 15 years of age. The diagnoses of cardiac rhabdomyoma were made primarily by echocardiography based on the presence of multiple tumors, cardiac tumors associated with tuberous sclerosis (TS), or histopathologic examination of surgical specimens. All patients were evaluated with 2-dimensional and Doppler echocardiography and then on follow-up examination every 3-6 months. Complete tumor regression was defined as no tumor visible by echocardiography. Partial tumor regression was defined as a decrease in tumor size of at least 15% from the previously measured size. RESULTS: A total of 29 tumors were found in 11 patients, 8 of whom had either TS or a family history of TS in 1 or more first-degree relatives. There were 9 boys and 2 girls 1 day-6.5 years old; (mean, 1.1 years). Three patients (newborns with heart failure) died, 2 after emergency surgery and 1 of intractable heart failure. The remaining 8 patients were managed conservatively and monitored for a mean duration of 3.3 years. Follow-up studies revealed that, of the 22 tumors in these 8 patients, 7 completely regressed, 7 partially regressed, and 8 remained stable. Our results showed no relationship between the tumor location and the regression rate (p = 0.34). CONCLUSIONS: Cardiac rhabdomyoma often presents in TS patients with no major arrhythmia or hemodynamic obstruction. However, in symptomatic neonates with or without TS, cardiac rhabdomyoma is usually fatal. Meticulous prenatal screening and routine echocardiographic examinations of patients with TS can reveal subclinical or clinically occult cardiac rhabdomyomas.

Adolescent↗
PubMed2002

Evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma.

OBJECTIVE: To evaluate the prenatal parameters that increase the risk of tuberous sclerosis in prenatal management of fetal cardiac tumors suspected as rhabdomyoma. METHODS: The study was a retrospective survey of 18 documented cases in which cardiac rhabdomyoma was suspected during pregnancy. The following parameters were evaluated as possible risk factors associated with tuberous sclerosis: tumor size, isolated or multiple, and family history of tuberous sclerosis. RESULTS: Eighteen documented cases in which cardiac rhabdomyoma was found during pregnancy were evaluated. Of these cases, seven (39%) had proven tuberous sclerosis and 11 were found to be non-associated tuberous sclerosis tumors. When combining the present data with previous series, cases with diagnosis of tuberous sclerosis had equal mean tumor size to those with normal outcome. Family history of tuberous sclerosis in the presence of cardiac rhabdomyoma almost invariably ended with tuberous sclerosis (86%). All other cases with diagnosis of tuberous sclerosis and no family history had all multiple cardiac tumors. CONCLUSION: The present data suggest that 39% of in utero suspected cardiac rhabdomyoma would have tuberous sclerosis. Family history and multifocality remain the strongest predictors of tuberous sclerosis, whereas size of the cardiac tumor can not reliably be used to predict tuberous sclerosis in prenatal counseling.

Adult↗
PubMed1993

Cardiac rhabdomyomas and their association with tuberous sclerosis.

A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure was the presentation in six, five of whom died; six presented because of a murmur and three because of arrhythmias. The prevalence of echocardiographic evidence of cardiac rhabdomyomas in a population of patients with tuberous sclerosis was established. Twenty individuals had echocardiography and eight had echodensities consistent with cardiac rhabdomyomas. It is concluded that the minimum birth incidence for children presenting because of the effects of cardiac rhabdomyomas is 1/326,000 and a minimum of 80% have tuberous sclerosis. In a population of patients with tuberous sclerosis a minimum of 60% under 18 years have cardiac rhabdomyomas.

Echocardiography↗
PubMed1983

Fetal rhabdomyoma of the larynx.

A patient had fetal cellular rhabdomyoma of the larynx confirmed histologically and by electron microscopy. The literature on laryngeal rhabdomyomas is reviewed. Adult and fetal rhabdomyomas demonstrate no clinical differences in the larynx, unlike rhabdomyomas described elsewhere in the body. Most patients are middle-aged men with less than three years' history of hoarseness. The diagnosis is established pathologically by using routine histologic criteria, special stains, and electron microscopy. Treatment consists of local surgical excision. The tumors rarely recur.

Adult↗
PubMed1999

Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas.

Tuberous sclerosis (TSC) is a dominantly inherited disorder due to mutations at two gene loci, the TSC1 locus on chromosome 9q34 and the TSC2 locus on chromosome 16p13.3. The TSC2 and the TSC1 genes have now been cloned, enabling mutation analysis. We report results of mutation analysis in a sporadic case of TSC first identified in intra-uterine life on the basis of the presence of cardiac rhabdomyomas. Postnatally this infant was also found to have subependymal nodules on brain computed tomographic scan. Hypomelanotic macules were not detected neonatally or at 12 months of age. The specific TSC1 exon 15 mutation found in our patient has not previously been reported in cases of TSC. This mutation involves duplication of a 23-bp segment of DNA between two 9-bp repeated sequence elements within exon 15. These repeat elements are located between nucleotides 1892-1900 and between nucleotides 1915-1923 within the TSC1 gene sequence. It is likely that the presence of these two repeated elements predisposes to misalignment of DNA strands and unequal crossing over. The mechanism of origin of rhabdomyomas in TSC is reviewed. Loss of heterozygosity in the TSC gene regions has been reported in cardiac rhabdomyomas; however, these lesions are self-limiting in their growth. The basis for this self limiting proliferation is not clear. One interesting postulation is that cardiac rhabdomyomas may be due to delay or failure of apoptosis which occurs as part of the normal remodeling process in the heart.

Base Sequence↗
PubMed2005

Cervical adult rhabdomyoma presenting as a rapidly growing mass in a patient with diffuse large B-cell non-Hodgkin's lymphoma.

BACKGROUND: Adult rhabdomyoma is a rare mesenchymal tumor, which generally grows slowly and is mainly localized in the head and neck area. PATIENT AND METHODS: We report the extraordinary case of a rapidly growing adult rhabdomyoma in a 73-year-old man. The patient was treated for diffuse large B-cell non-Hodgkin's lymphoma with CHOP therapy (doxorubicin, cyclophosphamide, vincristine, and prednisone). Comparison of the respective computed tomography scans showed prominent enlargement of 35% in the tumor mass volume on the right side of the neck within 3 months. The tumor was highly suspicious for lymphoma. Surgical resection was performed. RESULTS: Histological examination revealed a tumor which was composed of tightly packed polygonal cells with a PAS-positive granular or vacuolated cytoplasm, occasionally with cross-striations. Immunohistochemically, the cells were positive for desmin, myogenin, Myo-D1, but negative for S-100. Due to these characteristic morphologies, adult rhabdomyoma was diagnosed. CONCLUSION: This is the first report on an adult rhabdomyoma with a proven rapid enlargement. The possible pathomechanisms are discussed.

Aged↗
PubMed1997

Rhabdomyoma of the orbit in a child.

PURPOSE: To study a case of rhabdomyoma of the orbit in a 16-month-old boy. METHOD: The child had progressive right proptosis for 1 month. He underwent a computed tomographic scan, which showed an irregular right retrobulbar mass and partial resection. RESULTS: Histologic examination disclosed well-differentiated striated muscle cells with a mixture of collagen fibers and immature striated muscle cells with centrally placed nuclei. The specimen lacked nuclear atypia, indicating benign rhabdomyoma of the orbit. During the 1 1/2-year follow-up, the patient did not receive additional treatment, and no regrowth occurred. CONCLUSION: Rhabdomyoma can occur in the orbit of a child. Because of differences in treatment, rhabdomyoma must be distinguished from rhabdomyosarcoma.

Humans↗
PubMed1998

Cardiac rhabdomyomas and obstructive left heart disease: histologically but not functionally benign.

BACKGROUND: Cardiac rhabdomyoma is the most common primary heart tumor in infants. Spontaneous regression of such tumors is common, particularly with smaller lesions, followed by resolution of symptoms. Based on our data on spontaneous involution, our institutional philosophy has been one of expectant management in the absence of life-threatening symptoms. However, surgical intervention sometimes is required for the extirpation of a rhabdomyoma from the left ventricular outflow tract. METHODS: A retrospective review was conducted of 30 children in whom a rhabdomyoma was diagnosed over a 27-year period. RESULTS: Twenty-three percent (7/30) of the children required surgical extirpation of the tumor from within their left ventricular outflow tract, although a total of 94% had left ventricular involvement. There were no deaths. To date, no child has required reexcision of tumor. CONCLUSIONS: The natural history of rhabdomyoma is one of spontaneous regression (the 23 children who did not undergo surgical intervention are alive and continue to be followed up medically). We recommend surgical excision to alleviate acute outflow tract obstruction with reliance on the tumor's natural history of regression to achieve long-term freedom from reoperation. Although operation has been recognized as lifesaving, we were somewhat surprised to find that greater than 20% of our pediatric population required operative intervention.

Female↗
PubMed2001

Fetal rhabdomyoma of the posterior cervical triangle.

Rhabdomyoma is an uncommon benign tumor, with the majority arising from cardiac muscle. Seventy to 90% of extracardiac rhabdomyomas are found in the head and neck region, usually within the upper aerodigestive tract. The case of a 7-month-old boy with an enlarging posterior triangle neck mass found to be fetal rhabdomyoma is presented. This location is quite rare for benign rhabdomyoma, with previous literature search showing overwhelming predilection for the upper aerodigestive tract.

Diagnosis, Differential↗
PubMed1988

Multifocal adult rhabdomyoma. Case report and literature review.

Extracardiac adult rhabdomyoma is a rare benign tumor which occurs mostly in the head and neck region. A few cases of adult extracardiac rhabdomyoma (9 out of 69 reported) have been multifocal. We present a new case of multifocal adult rhabdomyoma which was asymptomatic. We describe histological features of adult rhabdomyoma which may provide a means for distinguishing it from other types of tumors.

Aged↗
PubMed2006

Huge pericardial rhabdomyoma with hypoplastic left ventricle and lung.

We describe the clinical course and autopsy findings of a female fetus with hydrops fetalis due to a huge pericardial rhabdomyoma. Fetal echocardiography at 21 weeks gestation demonstrated a huge tumor in the left ventricle. The fetus died of hydrops fetalis due to cardiac dysfunction at 24 weeks gestation. Autopsy demonstrated that the tumor protruded from the epicardial region of the apex into the pericardial cavity and induced a hypoplastic left ventricle and lung. Microscopically, the cardiac tumor showed characteristics of rhabdomyoma. This localization of cardiac rhabdomyoma is rare, but we remain aware of the possibility of an unusual and rapid progression of cardiac rhabdomyoma.

Abnormalities, Multiple↗
PubMed1992

Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis.

Little is known about the intrauterine course of tuberous sclerosis (TS) and the fetal age at which specific abnormalities may be detected. A case of neonatal TS diagnosed prenatally by the echocardiographic finding of a cardiac rhabdomyoma is presented. Literature review revealed that 50% of prenatally diagnosed rhabdomyomas are asymptomatic. Although cardiac rhabdomyomas tend to regress during the first year of life, they may for months be the only manifestation of TS. The number of new mutations may have been overestimated. The combination of computed tomography, echocardiography, and renal sonograms allows for the detection of other family members with latent TS. The incidence of TS in cases of cardiac rhabdomyomas is probably higher than previously reported.

Adult↗
PubMed2004

A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.

Tuberous sclerosis is a hamartoma syndrome due to mutations in TSC1 or TSC2 in which cardiac rhabdomyomas are seen in approximately 60% of patients. These lesions have an unusual natural history as they are usually most prominent immediately after birth and spontaneously resolve in most cases. To develop a mouse model of this lesion, we used a conditional, floxed allele of Tsc1 and a modified myosin light chain 2v allele in which cre recombinase expression occurs in ventricular myocytes. Mice with ventricular loss of Tsc1 had a median survival of 6 months and developed a dilated cardiomyopathy with the occurrence of scattered foci of enlarged ventricular myocytes. The enlarged cells were periodic acid-Schiff positive indicating the presence of excess glycogen and expressed elevated levels of phospho-S6, similar to findings in patient rhabdomyoma cells. The observations confirm that rhabdomyomas occur through a two hit mechanism of pathogenesis. However, the mice showed no evidence of fetal/neonatal demise, and there was no evidence of proliferation in the lesions. We propose that these differences are due to the timing of loss of Tsc1 in the ventricular myocytes and/or the truncated gestational period in the mouse compared with humans, during which progestational hormones may accentuate the growth of patient rhabdomyomas.

Alleles↗
PubMed1998

Benign fetal rhabdomyoma of the upper extremity. A case report.

Benign fetal rhabdomyoma is a tumor of striated muscle origin that rarely is seen in the extremities. Because of the similarities of fetal rhabdomyoma to its malignant counterpart, rhabdomyosarcoma, an important distinction is to be made to avoid errors in treatment. The clinical presentation, radiographic, and pathologic features of the first known case of an isolated upper extremity rhabdomyoma are described. The authors discuss, the distinction between this and rhabdomyosarcoma and also describe a unique histologic feature in rhabdomyoma, the presence of psammoma bodies.

Arm↗
PubMed2002

Mediastinal rhabdomyoma: a case report and review of the literature.

An incidental anterior-superior mediastinal rhabdomyoma is reported in a 68-year-old man who died of hypovolemic shock as a result of massive blood loss due to transection of aorta after being hit by a moving motor vehicle. This is the third reported case of mediastinal rhabdomyoma in the literature. The immunohistochemical evidence of expression of muscle-specific markers supports the rhabdomyomatous nature of this neoplasm, and electron microscopic demonstration of haphazardly arranged myofilaments with prominent Z bands, "jack-straws" in the mitochondria, and the absence of desmosomes is supportive of extracardiac origin of this rhabdomyoma. The possible histogenesis of extracardiac adult rhabdomyoma (EAR) in the anterior-superior mediastinum from the thymic myoid cells is also discussed.

Actin Cytoskeleton↗