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.     

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.     

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.     

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.     

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     

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.     

A case of tuberous sclerosis presenting with dysrhythmia in the first day of life

Cardiac rhabdomyoma (CR) is the most common primary cardiac tumor in childhood. Although CRs are asymptomatic in many cases, they may cause arrhythmia, heart failure and fetal hydrops. Babies with arrhythmia in the neonatal period must be investigated for structural heart disease including CR. Cardiac rhabdomyoma may either present as an isolated tumor or may be related with tuberous sclerosis. Arrhythmia due to CR may be the initial sign of tuberous sclerosis. We report a case of tuberous sclerosis presenting with ventricular premature beats and second-degree atrioventricular block in the first day of life who was found to have multiple CR during echocardiographic examination.     

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.     

Tuberous sclerosis complex and Wolff-Parkinson-White syndrome

This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Eight of the 10 cases were male. In eight cases, the syndrome was associated with supraventricular tachycardias, and in nine with cardiac rhabdomyomata. One child died from cardiac failure secondary to obstruction of the left ventricular outflow tract by a rhabdomyoma. Five of nine survivors showed resolution of Wolff-Parkinson-White syndrome on follow up. The accessory pathway was localised in nine patients from surface electrocardiograms: six children had left sided pathways and three had right sided pathways.     

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...     

Interventricular fibroma and cystic renal dysplasia in a newborn

A newborn twin presented with a cardiac tumor; at autopsy microcystic dysplasia was found in the kidneys. The histology of the renal cysts were not unlike those found in many multisystem syndromes (e.g., Schwartz-Jampel, Ehlers-Danlos, and Jeune's asphyxiating thoracic dystrophy). No evidence of tuberous sclerosis or other phakomatoses were found. This case may alert other observers to carefully look for cystic dysplasia of the kidneys or other organs in association with cardiac tumors.     

Interventricular Fibroma and Cystic Renal Dysplasia in a Newborn

A newborn twin presented with a cardiac tumor; at autopsy microcystic dysplasia was found in the kidneys. The histology of the renal cysts were not unlike those found in many multisystem syndromes (e.g., Schwartz-Jampel, Ehlers-Danlos, and Jeune's asphyxiating thoracic dystrophy). No evidence of tuberous sclerosis or other phakomatoses were found. This case may alert other observers to carefully look for cystic dysplasia of the kidneys or other organs in association with cardiac tumors.     

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.     

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.     

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     

Cystic renal involvement in tuberous sclerosis

We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized tomography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.     

INFANTILE SPASM AND TUBEROUS SCLEROSIS

ABSTRACT. Haglund, M., Bergvall, U., Theorell, K. and Troell, S. (Departments of Paediatrics and Diagnostic Radiology, Huddinge Hospital, Huddinge, Sweden). Infantile spasm and tuberous sclerosis. Acta Paediatr Scand, 70:751,.–During the years 1976–78, infantile spasm was diagnosed in a total of 12 children. In 4 of these patients the diagnosis tuberous sclerosis was established with the aid of computed tomography (CT). The advantages of CT examination in children with infantile spasm is discussed, especially the possibility to detect tuberous sclerosis at an early stage.     

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.     

Right Ventricular Dysplasia with Massive Thromboemboli in Tuberous Sclerosis Complex

A 12-year-old boy visited the emergency room for severe dyspnea. He was diagnosed with tuberous sclerosis at 5 years of age, and right ventricular dysplasia was detected at 11 years of age. Thromboemboli in right ventricle and bilateral pulmonary arteries were confirmed with two-dimensional echocardiography and computed tomography. We report the case of a patient with tuberous sclerosis who presented with huge thrombi in a dysplastic right ventricle and massive bilateral pulmonary thromboemboli without evidence of a cardiac tumor.