Prenatal ultrasound diagnosis of multiple cardiac rhabdomyomas

We report on a neonate with multiple cardiac rhabdomyomas, including a huge rhabdomyoma of the left ventricular posterior wall. Prenatal ultrasonography performed because of supraventricular tachycardia led to the diagnosis in the 28th week of gestation. Postnatal echocardiography confirmed the prenatal diagnosis. The tumor could not be removed surgically and the child died as a result of intractable arrhythmia at the age of 5 days. The diagnosis of multiple cardiac rhadbomyomas was confirmed by autopsy.     

Intrauterine fetal death due to cardiac rhabdomyomas

A 21-year-old patient, in her first and regularly controlled uneventful pregnancy, was admitted to hospital due to lower leg edema, hypertension, proteinuria, and weight gain. Fetal death occurred the next day and a female nonhydropic fetus, 40 cm CH, 1460 grams, at 29-week gestation was delivered. An autopsy showed no visible gross abnormalities except in the heart. The heart was enlarged, with five intramural and subendocardial nodules, 0.3 to 1 cm in size, three in the left ventricular free wall, and one in the right ventricle and right atrium, sharply demarcated, reddish-gray, moderately firm, with the typical appearance of rhabdomyoma.     

Pre-excitation syndrome secondary to cardiac rhabdomyomas in tuberous sclerosis

Rhabdomyomas are not uncommon in infants with tuberous sclerosis. We describe a neonate who presented with hydrops fetalis arising from a tachyarrhythmia during fetal life related to rhabdomyomas. After reversion of the arrhythmia, pre-excitation was noted on an interval electrocardiogram. Following regression of the tumours, the delta wave disappeared with no further arrhythmias noted.     

Diagnosis,evaluation and treatment of cardiac arrhythmias

Paediatric cardiac arrythmias commonly occur in the absence of structural heart disease, and are classified according to their cardiac site of origin. Although a detailed history and examination are invaluable, a correct diagnosis cannot be made unless the ECG is analysed, taking into account features specific to this age group. A 24-hour ECG recording may also be helpful. As many of these conditions have a genetic basis, a careful family history should be taken. For patients presenting acutely with haemodynamic collapse, paediatric life support measures should be instigated. For others, there is more time to undertake investigations prior to treatment. A relatively small number of agents, described here, are used in therapy, and in older children, radiofrequency ablation or fitting of a pacemaker offers a more permanent treatment. Advances in genetics suggest the chance of improved screening and treatment for those conditions which are inherited.     

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.     

暴发性心肌炎心源性休克的诊断与治疗

心肌炎临床表现轻重差异悬殊,早期可不典型,多有心外症状.部分患儿呈暴发性,临床表现急骤、病情变化快、发展迅猛,有时尚未明确诊断,在急诊室或入院不久即死亡.常是引致医疗纠纷的主要原因之一,临床医师必须对其提高警惕性和预见性.     

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...     

结节性硬化症合并心脏横纹肌瘤15例临床分析

目的　研究结节性硬化症(TSC)相关的心脏横纹肌瘤(CRM)的临床特点。方法　收集15例合并CRM的TSC患儿的临床资料, 分析其临床特征及基因突变结果。结果　11例(73%)患儿为多发CRM, 肿瘤绝大部分位于左右心室, 在心脏彩超上显示多数呈类圆形强回声团, 边界清晰。3例患儿出现心律失常, 2例发生心力衰竭。2例患儿行基因检测, 均检测到TSC基因致病性突变, 分别为TSC1基因和TSC2基因突变。随访3例患儿(随访时间6个月~3年2个月), 其CRM均自发缩小或消退。结论 TSC患儿合并CRM多为多发, 部分患儿可出现心力衰竭及心律失常。心脏彩超是发现CRM的重要方法。CRM可能有自然消退的倾向。TSC基因检测可在分子遗传学上确诊TSC。     

Fetal and neonatal cardiac rhabdomyomas: clinical presentation, outcome and association with tuberous sclerosis complex

Rhabdomyoma is the most common pediatric heart tumor. Cardiac rhabdomyomas (CRs) have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). We aimed to evaluate the clinical presentation and outcome of CRs and their association with TSC. Patients with CRs diagnosed in last six years were retrospectively analyzed. A total of 25 tumors were identified in seven patients by echocardiography. Three patients were diagnosed prenatally by fetal echocardiography, three patients in the neonatal period and one patient in early infancy. The median followup period was two years (range: 5 months-6 years). Five patients (71%) had multiple tumors. Three patients had arrhythmias and two patients required surgery. Only 36% (9/25) of the tumors regressed. TSC was diagnosed in four patients during the follow-up. CRs may have different presentations and clinical course. Surgery is only necessary when hemodynamically significant obstruction is present. As CRs are associated with long-term development of TSC and other diagnostic features are not yet typically apparent in the prenatal and neonatal periods, careful evaluation and follow-up are essential to exclude TSC.     

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.     

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.     

小儿心源性晕厥的诊断与处理

晕厥 (syncope)过去也有人称之为“昏厥”[1,2 ] 。广义来讲 ,晕厥泛指由各种原因导致的短暂性意识丧失。但通常它是指由一时性脑缺血引起的短暂意识丧失 ,常伴有因肌肉失去张力而跌倒 ,且多能迅速自行恢复的一组临床表现或症候群[1～ 5] 。在某种意义上来说 ,它也属小儿急症之一。在儿科临床上 ,时常可遇到以晕厥为主诉来就诊的患儿。由于能引发小儿晕厥的病因较多 ,处理方法又有区别 ,故及时做出正确的病因诊断十分重要。心源性晕厥 (cardiacsyncope)是小儿晕厥中既较常见又很严重的一种类型 ,在病因、临床表现、处理和预后方面与其他类型…     

心肌炎的诊断与治疗

心肌炎是指心肌的局限性或弥漫性的炎性病变为主要表现的疾病.近年来随着对心肌炎动物模型实验研究及患者临床数据研究的不断深入,在心肌炎诊治方面出现了一些新进展.无创性心脏磁共振检查对心肌炎的的诊断有重大的价值,但不能替代心内膜心肌组织活检.心肌炎的治疗主要是对症辅助支持处理,主要为积极治疗休克、心力衰竭及心律失常等综合治疗,尤其是暴发性心肌炎患者的治疗.因目前缺乏大量的相关临床研究数据,对于心肌炎的诊治仍需进一步探索.     

小儿神经节瘤的诊断与治疗

目的：为准确地诊断和治疗小儿神经节细胞瘤。方法：观察24例小儿神经节细胞瘤的超声，CT，核磁共振（MR）影像检查所见，总结其临床特点，并对该肿瘤进行病理分型。结果：术产经彩超，CT，MR检查，17例确定诊断，7例误诊为其他肿瘤，患儿年龄偏大，一般状态好，瘤体增长速度缓慢，骨穿，尿3－甲基，4－羟基苦杏仁酸（VMA）为阴性，依据神经节细胞与神经纤维成分的多少及有无神经母细胞，病理分为三型；A型以神经纤维成分为主，神经节细胞占少数，此型多见；B型两种成分大致相等；C型除上述两成分外，还可见到神经母细胞手术完整切除19例，5例部分残留，术中副损伤以腔静脉破裂多见，术后随访19例，16例正常，3例死亡，其中2例起源于肾上腺，结论：神经节细胞瘤虽为少见，但了解其影像学特点，术前可以作出诊断。     

Noonan综合征的诊断治疗进展

Noonan综合征(NS)是一种先天遗传性疾病,其临床特征包括特殊面容、矮身材、胸廓畸形、先天性心脏病,还可有多种其他系统的损害,易被忽视.现就近年来对NS的研究历史和基因型、临床表现及与基因型的相关性、临床诊治进展进行介绍.