Cardiac rhabdomyoma in familial tuberous sclerosis

Case report of a previously healthy girl who presented at the age of 9 months a paroxysmal supraventricular tachycardia. Echocardiography revealed multiple cardiac tumors. The detection of a few hardly visible unpigmented patches of skin allowed the diagnosis of tuberous sclerosis with cardiac rhabdomyomas. Computerised tomography of the brain showed typical calcifications and multiple hypodense parenchymal lesions. In the further course of the disease, progressive multifocal epilepsy and severe retardation of psychomotor development occurred, angiofibromas appeared on the face, and a suspected angiomyolipoma on renal sonography. A very mild form of this autosomal dominant phacomatosis could be detected in the patient's mother. As cardiac rhabdomyomas and tuberous sclerosis are frequently associated, investigations for both these findings with modern methods of body imaging are recommended in order to allow early diagnosis and genetic counselling.     

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.     

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.     

Splenic involvement in a stillborn fetus with tuberous sclerosis and multiple cardiac rhabdomyomas

Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis (TSC). However, splenic involvement in TSC is very rare. Histiocytoid cells in the spleen have been previously reported in only seven neonates and one fetus. We report an unusual case of multiple cardiac rhabdomyomas in a stillborn fetus with TSC who had clusters of histiocytoid cells in the spleen. These large cells had abundant eosinophilic cytoplasm and were positive with CD 68; ultrastructurally, they contained many membrane-bound bodies. It has been suggested that these cells are histiocytes. To the best of our knowledge, the present case is the second stillborn fetus who had splenic involvement with TSC.     

Asymptomatic Fatty Changes in the Myocardium of a Patient With Tuberous Sclerosis

Rhabdomyomas are the most common primary cardiac tumors in childhood. They usually occur on ventricular and septal walls. In approximately half of the cases, rhabdomyoma is associated with tuberous sclerosis. Most rhabdomyomas regress during the first years of life. We present MRI findings of fatty replacement of the myocardium which was probably after spontaneous regression of solid mass (rhabdomyoma) in a 16-year-old boy with tuberous sclerosis.     

Acute Pulmonary Embolism Resulting from Cardiac Tumors Associated with Tuberous Sclerosis

A case report of a neonate with cardiac tumors in association with tuberous sclerosis is presented. The rare complication of pulmonary embolism and its successful treatment by anticoagulation and thrombolytic therapy is described. The treatment of these cardiac tumors is conservative, because the tumors regress spontaneously when the diagnosis is made in infancy. However, embolic event may rarely occur as a complication of cardiac tumors. If the cardiac tumors are treated conservatively, it is important to pay close attention to the occurrence of pulmonary embolism during the follow-up period.     

Primary Heart Tumors in the Pediatric Age Group: A Review of Salient Pathologic Features Relevant for Clinicians

Because primary tumors of the heart in infants and children are extremely rare, most knowledge is based on collections of case reports rather than large cohort studies. The types of heart tumors encountered in the pediatric age group differ from those seen in adults. In the latter, cardiac myxomas are by far the most common tumor; in infants and children the most common primary tumor of the heart is the rhabdomyoma. Spontaneous regression of these tumors has been well established so that surgical intervention is no longer indicated unless there are clinical manifestations from the heart. There is a high incidence of associated tuberous sclerosis. Any intracavitary mass in infants is suggestive for a cardiac rhabdomyoma unless otherwise proven. The second most common tumor in this age group is cardiac fibroma. These tumors probably represent hamartomatous lesions and this has led to a strategy in which radical surgical excision is not indicated if the procedure endangers postoperative heart function. Cardiac myxomas are of interest in this age group because of their familial occurrence as part of the myxoma syndrome. Other types of primary heart tumors occur, including malignant variants, but all are exceedingly rare. It is because of the sporadic nature of these tumors that treatment and insights into prognosis are based largely on case documentations and analogies from similar tumors originating elsewhere.     

Cardiac rhabdomyoma and tuberous sclerosis: Prenatal diagnosis and follow-up

This article reports 4 cases with cardiac rhabdomyomas diagnosed during intrauterine life. Echocardiographic follow-up at 9–30 months showed regression of the tumors in 3 cases (75%). Two cases (50%) developed tuberous sclerosis during that period. Fetal echocardiography promotes early diagnosis of tuberous sclerosis through prenatal detection of cardiac rhabdomyoma, and facilitates genetic counselling of families at risk     

CARDIAC RHABDOMYOMA IN INFANCY

Abstract. Harinck, E., Moulaert, A. J. M. G., Rohmer, J. and Brom, A. G. (Departments of Paediatric Cardiology and Thoracic Surgery, University Hospital, Leiden, The Netherlands). Cardiac rhahdomyoma in infancy. Acta Paediat Scand, 63:283, 1974.–The clinical picture of three cases of cardiac rhahdomyoma is presented. Surgical removal was attempted in two cases. One of them is still alive 9 years after the operation hut has a severe mental retardation due to the associated tuberous sclerosis. Particular attention is given to the frequent association of cardiac rhabdomyoma and tuberous sclerosis. With the progress of cardiac surgery rhabdomyomas of the heart often can be removed successfully but a surgical intervention is justified only in the absence of tuberous sclerosis or brain damage.     

Diagnosis and treatment of cardiac rhabdomyomas

A diagnosis of primary cardiac tumors was achieved by two-dimensional echocardiography in 3 patients. Two of them were female neonates, born of the 29th and 40th gestational week who had shown intrauterine arrhythmias. Subsequently, we were able to diagnose tuberous sclerosis in both. The third child, a 121/2 year old boy, with already diagnosed tuberous sclerosis, presented an electrocardiographical preexcitation syndrome. Because of the multiplicity of the tumors and the association with tuberous sclerosis we presumed that the tumors were rhabdomyomas. As it is known that rhabdomyomas show no, or only a minimal postnatal growth, we decided neither to perform a heart catheterization nor to treat them surgically unless the children show hemodynamical deterioration, although the tumors were huge in both neonates. The subsequent 14 months showed a clear regression in the size of the tumors. One of the neonates was successfully treated with amiodarone because of ventricular tachycardia. The second neonate didn't require any treatment. We conclude that: Surgical management is only necessary in patients presenting with cardiac insufficiency and/or arrhythmias that are resistant to conventional medical treatment. Primary cardiac tumors should be looked for in patients presenting with arrhythmias, even when occurring already during intrauterine life. Diagnostic measures in order to diagnose tuberous sclerosis in patients with cardiac tumors are necessary and vice versa.     

Sinus node dysfunction in tuberous sclerosis

Tuberous sclerosis is an autosomal dominant disease with potential for involvement of the skin, brain, lungs, kidneys, and heart. A case of prolonged sinus node pause and episodes of unresponsiveness in a 21-week-old infant with tuberous sclerosis is described. The infant subsequently underwent placement of an epicardial pacemaker. This case illustrates the importance of electrocardiographic studies in infants with tuberous sclerosis and seizure-like episodes.     

An Unusual Variant of Total Anomalous Pulmonary Venous Connection with Varices and Multiple Drainage Sites

Total anomalous pulmonary venous connection (TAPVC) is an uncommon cardiac anomaly that has also rarely been associated with esophageal atresia. We report an unusual case of esophageal atresia with TAPVC with several varices and multiple drainage sites into the superior vena cava and portal vein.     

Echocardiography for the Diagnosis of Congenital Cardiac Anomalies with Multiple Lesions

The purpose of this study was to determine the sensitivity and specificity of echocardiography for the diagnosis of congenital cardiac abnormalities with multiple lesions. The study was carried out on 80 patients (ages 1 day to 14 years). After clinical evaluation all patients were studied by echocardiography. Cardiac catheterization and angiocardiography were performed, and echocardiographic findings were compared with those obtained by cardiac catheterization. The sensitivity and specificity of echocardiographic diagnosis were determined based on the false-negative and false-positive results. Of the 80 patients, 19 had double-outlet right ventricle, 17 transposition of the great arteries, 10 common atrium, 9 atrioventricular septal defect, 7 single ventricle, 7 corrected transposition, 6 tricuspid atresia, 3 Ebstein's anomaly, and 2 cor triatriatum. All of these entities were visualized correctly by echocardiography (sensitivity 100%, specificity 100%). There were also 12 instances of atrial isomerism with one false-negative diagnosis, 6 pulmonary atresia with two false-negative diagnoses, and 5 total anomalous pulmonary venous connections with one false-negative diagnosis. The total number of individual cardiac lesions was 291. Nineteen false-negative and four false-positive echocardiographic diagnoses were obtained (sensitivity 93%, specificity 99%). It is concluded that double-outlet right ventricle, transposition of the great arteries, atrioventricular septal defect, single ventricle, corrected transposition, and tricuspid atresia can be accurately diagnosed by echocardiography. However, the role of echocardiography is limited for evaluation of right ventricular outflow tract and small patent ductus arteriosus, especially when associated with pulmonary hypertension.     

Partial seizures in a newborn with tuberous sclerosis

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.     

Multivisceral Dysplastic Lesions in a Patient with Tuberous Sclerosis and Langerhans Cell Histiocytosis

Collections of large cells and smaller satellite-like cells arranged in an autonomic ganglion-like pattern and resembling the white matter lesions of tuberous sclerosis were found in the thymus, lungs, liver, appendix, and heart of an 8-month-old infant who exhibited other pathologic findings of tuberous sclerosis (rhabdomyomas of the heart and multiple kidney cysts). Focal cytoplasmic staining for S-100 and GFAP was noted in some large cells, suggesting neural (probably schwannian) differentiation. Dysplastic neurogenic foci appearing in internal organs may represent another morphologic marker of tuberous sclerosis. The simultaneous presence of Langerhans cell histiocytosis produced an unusual combination not previously reported.     

Multivisceral dysplastic lesions in a patient with tuberous sclerosis and Langerhans cell histiocytosis

Collections of large cells and smaller satellite-like cells arranged in an autonomic ganglion-like pattern and resembling the white matter lesions of tuberous sclerosis were found in the thymus, lungs, liver, appendix, and heart of an 8-month-old infant who exhibited other pathologic findings of tuberous sclerosis (rhabdomyomas of the heart and multiple kidney cysts). Focal cytoplasmic staining for S-100 and GFAP was noted in some large cells, suggesting neural (probably schwannian) differentiation. Dysplastic neurogenic foci appearing in internal organs may represent another morphologic marker of tuberous sclerosis. The simultaneous presence of Langerhans cell histiocytosis produced an unusual combination not previously reported.     

Primary cardiac tumors associated with genetic syndromes: a comprehensive review

Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management.     

Multiple Intrapulmonary Arteriovenous Fistulas in Childhood

Pulmonary arteriovenous fistulas (AVFs) are a rare but recognized cause of cyanosis in childhood. Lesions may be acquired as in hepatopulmonary syndrome or they may be congenital, particularly in association with certain multisystem disorders. Large fistulas are more common than multiple small connections. Two cases, both boys, presenting in the first decade of life are described. ``Bubble' echocardiography was the most telling investigation and strongly suggested the presence of AVFs in both cases. Each patient then underwent cardiac catheterization, which demonstrated normal pulmonary artery pressure and diffuse pulmonary telangiectasis. Both patients were treated effectively with nifedipine and continue with this mode of therapy.     

Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex in 11 Children: Presentation to Outcome

Cardiac rhabdomyomas (CRs) are the most common heart tumors in children and closely associated with tuberous sclerosis complex (TSC). This study was performed to assess the presentation type, clinical course, treatment modalities, and outcome of the patients with rhabdomyoma, associated with TSC. We reviewed our patients with cardiac rhabdomyomas (CRs), who had received a diagnosis of TSC previously or during the follow-up period between June 1996 and January 2012, retrospectively. Thirty-two patients with TSC were evaluated and among them 11 patients (34%) were associated with CRs. Five patients (45%) had multiple tumors and consequently a total of 29 CRs were analyzed in our study. The median follow-up period was 2 years (range: 1 week–15 years). Clinical presentation was cardiac murmur in three patients, cyanosis in two patients and arrhythmia in one patient. Five patients were asymptomatic at the diagnosis and CRs were detected during routine cardiac evaluation for TSC. Cardiac tumors were diagnosed prenatally in two patients. Spontaneous regression rate was 31% and we experienced a complete regression of a tumor with an echogenic bordered tissue defect and septal thinning in a patient. Three patients had hemodynamically significant tumor obstruction; two of them underwent surgery. The other patient, who had multiple CRs, was treated medically with everolimus because of high-risk potential of surgery. Although surgical resection is the preferred treatment in most of the patients with hemodynamic instability, we need novel alternative medical therapies in some critically ill patients who cannot be operated due to various reasons.     

Intracardiac rhabdomyomas in neonates: report of three cases

Three cases of intracardiac rhabdomyomas in neonates are presented. All were diagnosed by ultrasound, one prenatally and two directly after birth. Two of the patients were operated on during the neonatal period. The operations were carried out on the ultrasound findings alone. One patient was considered inoperable and died at three weeks of age. The two surviving patients have no cardiac symptoms and involution of the tumors has taken place. Two of the three patients have shown signs of tuberous sclerosis.