The natural history of cardiac rhabdomyoma with and without tuberous sclerosis

The aim of the present study is to contribute to the knowledge of the natural history of cardiac rhabdomyoma in children with and without tuberous sclerosis. In a retrospective study, 33 children with cardiac rhabdomyoma were collected from three pediatric cardiology centres. In 30/33 patients tuberous sclerosis was associated. High prevalence of cardiac rhabdomyoma was found in infancy, with 21/23 detected before the age of 1 year, and 11/33 before 1 month of age. Cardiac manifestations were present in 19 patients: cardiac rhythm disturbances were detected in 13; in 6/33 a Wolff-Parkinson-White syndrome was documented, of which 4 presented paroxysmal arrhythmias. Obstructive or regurgitative phenomena were present in 5; and in 2 patients surgical removal proved necessary. With the exception of one tumoural mass in the right atrium, all 77 tumours were located somewhere in the ventricles, including at atrioventricular valve level. Because of spontaneous regression of most of the tumoural masses, treatment should at first be symptomatic, while surgical removal is required only in life-threatening conditions, as documented in 2 of our 33 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.     

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.     

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...     

Bourneville tuberous sclerosis manifested by prenatal finding of intracardiac tumors]

Neonatal cardiac rhabdomyoma is the most frequent cardiac tumour in the newborn, and a classical way to diagnose tuberous sclerosis (Bourneville's disease). The authors report 4 cases, including 2 antenatal diagnosis: 2 of them had arrhythmia, one with asystolic cardiac failure and the other with cyanosis due to a right-left shunt; the tumour was asymptomatic in the 2 others. The 4 babies had clinical and radiological neurologic signs of tuberous sclerosis, initially or during the course of the disease. The authors discuss the polymorphism of the clinical presentation of tuberous sclerosis in the newborn. Although tuberous sclerosis is transmitted through a dominant gene, the expressivity and the penetrance are very variable. The authors discuss the examination and investigation of at risk family members. The genetic counsel is difficult but very important because of the poor neurologic prognosis of the disease.     

Cranial magnetic resonance imaging in patients with tuberous sclerosis and normal intellect.

The pattern of cerebral hamartomas among a population of patients with tuberous sclerosis and normal intellect was determined. All patients with tuberous sclerosis over 5 years old with normal intellect who were resident in the Bath health district were offered cranial scanning by magnetic resonance imaging. Cerebral axial and coronal images were obtained in 10 mm contiguous sections with a Picker 0.5 tesla magnetic resonance imaging unit. The number, size, and distribution of lesions found was recorded. Eleven of 13 eligible patients underwent scanning. Two patients had normal scans. Seven patients had between one and five subependymal nodules. Nine patients had between two and nine cerebral tubers best seen on T2 weighted images. Our findings suggest that the wrong conclusions may be drawn if the number of lesions alone is used to predict neurological outcome in tuberous sclerosis.     

Echocardiographic abnormalities in type IV mucopolysaccharidosis.

Cardiac involvement is well recognised in most forms of the mucopolysaccharidoses but there is poor documentation of abnormalities specific to Morquio''s syndrome (type IV mucopolysaccharidosis). Ten patients with the classic form or type A Morquio''s syndrome with a median age of 12.5 years underwent echocardiographic assessment. Abnormalities were detected in six (60%) cases with mitral valve involvement in five patients and aortic valve disease in four. One patient had severe mitral leaflet thickening to the point of mitral stenosis. Two patients had evidence for myocardial involvement by way of echocardiographic ventricular hypertrophy. The cardiac lesions were haemodynamically mild. A cardiac murmur was audible in only three of the six cases. It is concluded that there is a high prevalence of silent cardiac abnormalities in patients with Morquio''s syndrome with predominantly left sided valve involvement. Echocardiography should be part of the assessment of these patients and bacterial endocarditis prophylaxis should be advised for those with cardiac abnormalities.     

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.     

Neonatal Tuberous Sclerosis with Heart and Brain Tumors

A 6-day-old neonate with tuberous sclerosis having brain and cardiac tumors is reported. The patient presented with a seizure 20 minutes after birth. Cranial ultrasonography and computed tomography on admission showed a large and round high-density tumor lesion in the left frontal lobe. Echocardiography also showed a large tumor lesion beside the left ventricle wall, and a diagnosis of tuberous sclerosis was promptly made. Two months later, a periventricular calcified lesion was found on the demonstrated portion, and the tumor lesion initially observed in the brain had disappeared. These findings suggest that the initial tumor lesion found in the brain developed into a typical calcified lesion.     

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.     

CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms

Tuberous sclerosis is associated with epilepsy that is often refractory. We examined cerebrospinal fluid (CSF) concentrations for neurotrophins, nerve growth factor (β-NGF) and insulin-like growth factor (IGF-1) in children with infantile spasms between 1997 and 2010. We classified the patients as follows: tuberous sclerosis (n = 5), cryptogenic spasms (n = 6), postinfectious spasms (n = 5) and other symptomatic spasms (n = 22). We had 22 age- and sex-matched controls for CSF-NGF and 14 for CSF-IGF-1. The median of CSF-NGF was higher in those with tuberous sclerosis, 56 (minimum–maximum, 8.0–131) ng/L, in relative to age- and sex-matched controls, 6.7 (0.0–22) ng/L, and symptomatic infantile spasms, 0.0 (0.0–4.5) ng/L or cryptogenic cases of infantile spasms, 6.2 (3.9–8.8) ng/L, respectively. CSF-NGF were highest in children with postinfectious aetiology, 408 (89–778) ng/L. CSF-IGF-1 of tuberous sclerosis, 0.65 (0.35–0.98) μg/L, did not differ from the cryptogenic spasms, 0.68 (0.32–0.87) μg/L, or from age- and sex-matched controls 0.52 (0.22–0.77) μg/L. Patients with tuberous sclerosis and cryptogenic spasms had normal development prior the ACTH therapy. We suggest that increased CSF-NGF might indicate a persistent activation of inflammatory pathways in cortical tubers in tuberous sclerosis and this would reflect in CSF concentrations.     

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.     

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.     

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     

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 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.     

Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.

Echocardiography was performed in 60 people with tuberous sclerosis to ascertain the prevalence and course of cardiac rhabdomyomata at different ages. Twenty five (58%) of 43 children had tumours, but only three (18%) of 17 adults. The tumours tended to remain the same size through childhood. Only three infants were included but evidence from this and some published case reports suggest that the tumours tend to regress in early infancy and again in adolescence. The prevalence of tumours in young infants with tuberous sclerosis is likely to be considerably above 50%. As other signs of tuberous sclerosis are usually absent at this age echocardiography may afford the most useful diagnostic test in early infancy.     

Oligosymptomatic variant of tuberous sclerosis with subependymal giant cell astrocytoma

We report on a 9-year-old boy who developed subependymal giant-cell astrocytoma associated with tuberous sclerosis. Remarkably, the boy was not mentally retarded and never had suffered from seizures. Apart from white skin patches symptoms of increased intracranial pressure were the presenting symptoms. The boy's mother, who was present at the boy's admission, presented with skin lesions typical of tuberous sclerosis. The importance of thorough examination of apparently asymptomatic relatives of patients with tuberous sclerosis is emphasized.     

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.