Cardiac tumours in tuberous sclerosis: Their incidence and course

Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients.     

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.     

Cardiac rhabdomyoma in tuberous sclerosis. A report of five cases and review of the literature]

Five children with tuberous sclerosis (TS), a polysystemic disease, had cardiac tumors detected by B-mode echocardiography. In a fetus, sonography performed at the eighth month showed the presence of a cardiac mass and of polycystic kidneys: the diagnosis of TS was confirmed postnatally because of the presence of calcified cerebral nodules. A newborn dichorial twin had paroxysmal tachycardia at ten days. B-mode echocardiography showed the presence of seven intracardiac tumors, and cerebral CT the presence of multifocal periventricular calcifications. An absence in a nine month old baby prompted an electrocardiogram that proved abnormal; a B-mode echocardiography showed large apical cardiac tumor; again cerebral CT showed periventricular calcified nodules. Two girls, 9 and 10 y.o. respectively, affected by TS, with normal electrocardiograms, both presented a small, asymptomatic, intracardiac mass demonstrated sonographically. In recent years, prenatal sonography and B-mode echocardiography in patients with TS demonstrated with increasing frequency the association of cardiac tumors (rhabdomyomas) with TS. Tumor detection often precedes the appearance of the cutaneous and neurological signs typical of the disease. This paper emphasizes the role of echocardiography in detecting cardiac tumors, as an early sign for the diagnosis of tuberous sclerosis, and to depict the natural history of cardiac rhabdomyoma with its variable clinical presentation and prognosis.     

Cardiac tumour in a neonate with tuberous sclerosis: echocardiographic demonstration and magnetic resonance imaging

In a neonate with tuberous sclerosis, cardiac tumours were diagnosed by two-dimensional echocardiography and evaluated by electrocardiogram-gated magnetic resonance imaging (MRI). The tumour size, shape and mobility in the ventricular cavities were more precisely determined by two-dimensional echocardiography than electrocardiogramgated MRI, while the extent of tumour mass at the apex was more clearly delineated by MRI. As two-dimensional echocardiography provides real-time imaging of cardiac anatomy without sedation, it is useful for initial evaluation of cardiac masses in neonates with genetic predisposition to tuberous sclerosis.Abbreviation MRI magnetic resonance imaging     

Neonatal cardiac rhabdomyoma and phakomatosis

A large cardiac rhabdomyoma was discovered before delivery in a neonate, whose outcome was fatal. The baby and her mother had both cutaneous lesions suggestive of tuberous sclerosis, and the mother's sister had died from Von Hippel Lindau disease. The association of a cardiac rhabdomyoma and a tuberous sclerosis in the same patient is not uncommon, but the existence of Von Hippel Lindau disease in a member of the same family seems to be exceptional.     

Thoracoabdominal imaging of tuberous sclerosis

Imaging of tuberous sclerosis complex has rapidly evolved over the last decade in association with increased understanding of the disease process and new treatment modalities. Tuberous sclerosis complex is best known for the neurological symptoms and the associated neuroimaging findings, and children with tuberous sclerosis complex require active surveillance of associated abnormalities in the chest, abdomen and pelvis. Common findings that require regular imaging surveillance are angiomyolipomas in the kidneys and lymphangioleiomyomatosis in the chest. However multiple rarer associations have been attributed to tuberous sclerosis complex and should be considered by radiologists reviewing any imaging in these children. In this review the authors discuss the spectrum of imaging findings in people with tuberous sclerosis complex, focusing on MR imaging findings in the chest, abdomen and pelvis.     

Transposition of the Great Arteries, Pulmonary Atresia, and Multiple Ventricular Septal Defects Associated with Multiple Cardiac Rhabdomyomas in a Case of Tuberous Sclerosis

Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.     

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.     

Cardiac rhabdomyoma as an unusual mediastinal mass in a newborn

A newborn case with cardiac rhabdomyoma is presented to discuss the differential diagnosis of mediastinal tumors around the heart in children. The diagnosis of rhabdomyoma can be suggested by modern visualization methods such as computerized tomography, magnetic resonance imaging and echocardiography. However, surgery is clearly indicated in cases with obstruction of flow tracts, valvular dysfunction and dysrhythmia, and in cases with indefinite diagnosis, or in the absence of association with tuberous sclerosis. Cardiac rhabdomyoma should be included in the differential diagnosis of masses located adjacent to the heart in infants.     

Sudden unexpected death in childhood associated with cardiac rhabdomyoma, involuting adrenal ganglioneuroma, and megalencephaly: another expression of tuberous sclerosis?

We report a 9-year-old, previously healthy girl who died suddenly and unexpectedly and was found at postmortem examination to have a cardiac rhabdomyoma, megalencephaly, and an involuting adrenal ganglioneuroma. Her death was possibly caused by a fatal cardiac arrhythmia resulting from interference of the ventricular septal rhabdomyoma with the cardiac conduction fibers. Her extended family history included a variety of disorders, including cleft lip and palate and ill-defined cardiac and neurologic diseases. The constellation of her autopsy findings suggested a diagnosis of tuberous sclerosis, for which there are gene defects that can be identified in surviving family members.     

Bourneville's tuberous sclerosis of neonatal disclosure. Apropos of 2 cases

A cardiac murmur was found in a newborn, after 12 hours of life. It was related to an intracardiac tumor, and we made the diagnosis of tuberous sclerosis. The same diagnosis was made in another patient, with a tumor diagnosed by obstetrical echography. In these two cases, seizures occurred rapidly during the evolution. In one case, the heredity was dominant, in the other one, it was a "de novo" mutation. It is unusual to diagnose tuberous sclerosis during the neonatal period, so we report these two cases.     

Clinically silent seizures in a neonate with tuberous sclerosis

Although seizures during infancy in patients with tuberous sclerosis complex are common, seizures in neonates are infrequent. Here, we report the clinical course and electroencephalography (EEG) findings of a neonate with tuberous sclerosis complex associated with clinically silent seizures. The patient was a girl in whom cardiac tumors were detected on fetal ultrasonography. Brain magnetic resonance imaging during the neonatal period showed subependymal and cortical tubers. Routine EEG indicated unexpected ictal changes with no noticeable clinical symptoms. Ictal EEG was associated with a subtle increase in heart rate and a brief increase in chin electromyogram. These changes were difficult to identify clinically. The patient later developed focal seizures and epileptic spasms and had severe psychomotor delay. The present case suggests the occurrence of clinically silent seizures before the appearance of epileptic spasms in infants with tuberous sclerosis, and that EEG is an option for neonates with a prenatal diagnosis.     

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.     

Left ventricular giant rhabdomyoma in an infant with no tuberous sclerosis: accidental finding and complex management

The accidental finding of a giant left ventricular rhabdomyoma in a female infant with no tuberous sclerosis is described herein. This is the first report of a huge cardiac rhabdomyoma occluding the left ventricular cavity, which was not associated with tuberous sclerosis. The clinical management of the baby and the difficult therapeutical choices involved both pediatricians and pediatric cardiologists.     

婴幼儿原发性心脏肿瘤的诊断与治疗

目的:总结婴幼儿原发性心脏肿瘤的诊断和治疗经验。方法:回顾性分析2013年8月至2019年2月大连医科大学附属大连市儿童医院心脏中心收治的7例疑似原发性心脏肿瘤婴幼儿的诊治过程,患儿均行超声心动图等检查明确诊断,根据肿瘤的大小和位置选择治疗方案。出院后行随访观察。结果:7例患儿均经超声心动图诊断为原发性心脏肿瘤,其中2...     

Tuberous Sclerosis Complex in Autism

Objective

To study the prevalence rate of tuberous sclerosis complex in autistic disorder.

Methods

We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005–2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.

Findings

Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70.

Conclusion

The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex.     

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.     

Two unusual tumours of the gastrointestinal tract in a patient with tuberous sclerosis

A 16 year old girl with an established diagnosis of tuberous sclerosis presented with a 1 year history of swelling of the left cheek. A 2 cm diameter tumour was excised which showed histological features of a solid variant of a minor salivary gland basal cell adenoma. One year later during laparotomy and excision of multiple renal angiomyolipomas, a 5 cm diameter subserosal tumour was found at the hepatic flexure of the colon. Examination of biopsy material revealed a leiomyoma. This case is presented to demonstrate two tumours that have not to the authors' knowledge been previously described in a young patient with tuberous sclerosis. Although the association may be coincidental, these tumours could represent two rare associations of tuberous sclerosis.     

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.