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.     

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

OBJECTIVES: We reviewed our institution's experience with fetal cardiac rhabdomyoma to document the clinical outcome and incidence of associated tuberous sclerosis complex (TSC) and compared our findings with those of patients diagnosed with cardiac rhabdomyoma after birth. STUDY DESIGN: We reviewed the medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma between January 1990 and June 2002. RESULTS: Twenty fetuses with cardiac rhabdomyoma were diagnosed at 28.4+/-6.0 weeks' gestational age. Of 19 continued pregnancies, there was one spontaneous intrauterine death, and 18 were delivered at term. Although none had prenatal hemodynamic complications, after birth seven had cardiac symptoms requiring medical (n=4) or surgical intervention (n=3). On follow-up, 15 of 19 with available outcome had TSC (79%), including six with neurodevelopmental disease. Over the same period, 26 patients were diagnosed with cardiac rhabdomyoma postnatally. Most (77%) were referred for cardiac assessment after findings suggesting TSC. On follow-up, TSC was confirmed in 25 (96%), including 22 with neurodevelopmental disease. The incidence of cardiac symptoms and TSC was not statistically different between the prenatal and postnatal diagnosis groups. CONCLUSIONS: Cardiac rhabdomyomas are benign from the cardiovascular standpoint in most affected fetuses. As observed in postnatally diagnosed cardiac rhabdomyoma, TSC is diagnosed in most cases of fetal cardiac rhabdomyoma.     

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.     

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.     

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.     

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.     

Regression of massive cardiac rhabdomyoma on everolimus therapy

Cardiac rhabdomyoma is the primary feature of the genetic disease, tuberous sclerosis complex, the most common cardiac tumor diagnosed in neonates and infants. Spontaneous regression is observed in most cases, but these tumors may cause hemodynamic instability, arrhythmias or other complications. We describe the case of a critically ill neonate, resuscitated after cardiac arrest secondary to massive locally invasive cardiac rhabdomyoma, who was successfully treated with everolimus (mammalian target of rapamycin [mTOR] inhibitor). Rapid tumor regression was observed on echocardiography, but it was unlikely that it was confounded by the natural disease course of regression. The presented case suggests that mTOR inhibitors may play a significant role in the treatment of large cardiac rhabdomyomas in critically ill neonates.     

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.     

Cardiac rhabdomyoma presenting as fetal hydrops

Summary Fetal hydrops and possible congenital heart disease with atrioventricular block was diagnosed one day before birth in a male infant of 35 weeks' gestation. Echocardiography and angiocardiography soon after birth revealed a cardiac tumor. The child died three days after birth. Necropsy showed tuberous sclerosis involving the heart (type-I rhabdomyoma), kidneys, retina, and central nervous system.     

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 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.     

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 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.     

Heart transplantation in an infant with rhabdomyoma

Rhabdomyoma is the most common primary cardiac tumor in infants and children and is often associated with tuberous sclerosis. Surgical resection may be indicated and, if so, is usually curative. We describe a rhabdomyoma in an infant who presented with severe myocardial ischemia necessitating orthotopic heart transplantation.     

Fetal Demise Secondary to Massive Rhabdomyoma in the Early Second Trimester of Pregnancy

Rhabdomyoma is the most common cardiac tumor in fetuses, often associated with tuberous sclerosis complex and usually diagnosed in the third trimester of pregnancy, with a benign course in the majority of cases. The hemodynamic impact of cardiac tumor depends on the location and size of the mass and the presence of dysrhythmia (4). Fetal cardiac rhabdomyoma accounts for less than 10% of fetal demise cases (1). This report presents a case of massive cardiac rhabdomyoma filling the entire right heart with pericardial extension, leading to hydrops and subsequent fetal death in the early second trimester of pregnancy.     

儿童结节性硬化症的临床诊断探讨

目的　探讨结节性硬化症儿科病人的特点。方法　应用美国全国结节性硬化症 1998年诊断标准 ,分析31例有结节性硬化症特征病例的临床表现并进行诊断。结果　 31例就诊年龄为 2个月至 12岁 ,中位数 2岁 1个月。儿科结节性硬化症患儿的临床表现主要有 :癫疒间 发作、精神运动发育落后、皮肤损害 (色素脱失斑和面部血管纤维瘤 )、侧脑室室管膜下结节、大脑皮质结节、心脏横纹肌瘤和肾脏血管肌脂瘤。通过临床表现 ,诊断结节性硬化症 2 5例 ,可能为结节性硬化症 2例 ,4例怀疑为结节性硬化症。结论　新的临床诊断标准对儿科患儿的特点比较重视 ,有较好的可操作性。小儿结节性硬化症常见具有诊断性意义的特征为 :皮肤损害 (色素脱失斑和面部血管纤维瘤 )、侧脑室室管膜下结节、大脑皮质结节、心脏横纹肌瘤和肾脏血管肌脂瘤     

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...     

Imaging of pediatric cardiac tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper

Cardiac tumors in children are rare and the majority are benign. The most common cardiac tumor in children is rhabdomyoma, usually associated with tuberous sclerosis complex. Other benign cardiac masses include fibromas, myxomas, hemangiomas, and teratomas. Primary malignant cardiac tumors are exceedingly rare, with the most common pathology being soft tissue sarcomas. This paper provides consensus-based imaging recommendations for the evaluation of patients with cardiac tumors at diagnosis and follow-up, including during and after therapy.     

Localized Nodular Hypertrophy Mimicking Rhabdomyoma in the Fetal Heart: Prenatal Sonographic and Pathology Findings

Multiple intracardiac masses (ICM) are considered to be diagnostic of rhabdomyoma often associated with tuberous sclerosis. We describe a fetus with multiple ICM detected by fetal sonography at 18.7 wk gestation. The appearance and number were consistent with leading diagnosis of rhabdomyoma. Due to complications of pregnancy and extreme prematurity, the fetus did not survive. Autopsy showed the cardiac masses to be localized nodular hypertrophy (LNH) of the myocardium. No features of rhabdomyoma or tuberous sclerosis were present. In a review of the literature, similar lesions were reported in a child and two adults, perhaps as localized variants of hypertrophic cardiomyopathy. Our case does not, however, show the histopathologic features of hypertrophic cardiomyopathy. Isolated developmental abnormalities, such as in this case, can have a mass effect mimicking cardiac tumors. At the time of autopsy, the largest mass in the anterior wall of the right ventricle extended to and obstructed the right ventricular outflow tract.The abstract was presented at the Fall Meeting of the Society for Pediatric Pathology, Dallas, Texas, USA, September 27–28, 2002.