Displacement of the anterior leaflet of the tricuspid valve: Rare variant of Ebstein's anomaly

In Ebstein's anomaly, the points of attachment, or hinges, of the septal and mural leaflets in the right ventricle are displaced away from the atrioventricular junction. In contrast, the junctional hinge of the anterior leaflet usually retains a normal position. Here, we report a case of giant right atrial aneurysm due to isolated displacement of the anterior leaflet of the tricuspid valve in an infant, a rare variant of Ebstein's anomaly. Enlargement of the right atrium, which was initially diagnosed during the fetal period, progressively and markedly dilated after birth and was successfully treated with surgical resection. Isolated displacement of the anterior leaflet should be recognized as a variant of Ebstein's anomaly.     

Longitudinal estimation of signal-averaged electrocardiograms in patients with Kawasaki disease

BACKGROUND: Myocarditis associated with Kawasaki (KD) disease is prominent, but rarely detected by conventional methods. The hypothesis of this study is to see if signal-averaged electrocardiogram can detect myocarditis with KD. METHODS: We obtained signal-averaged electrocardiograms from 71 patients with KD (mean age 2.8 +/- 2.9 years) in the acute (1st-4th week), subacute (5-7th week), and chronic (8th week or later) phases (mean study period 3.5 +/- 1.7 years). Sixteen patients who had pericardial effusion, bundle branch block or myocardial ischemia were excluded from this study. The results were compared with those of Holter and 12-lead electrocardiograms, echocardiography and serum myocardial enzymes. They were also contrasted with the course of each patient. RESULTS: The incidence of abnormal findings on signal-averaged electrocardiogram was 18.2% in the acute phase versus 10.9% in the subacute and chronic phases. It differed significantly higher than the other conventional tests (P < 0.05). Four patients had abnormalities of signal-averaged electrocardiograms through all three phases. Among these four, two had reduced left ventricular contractility. However, these changes were transient and resolved in the subacute phase. All patients had good courses and no residue. CONCLUSION: This study shows the possibility that signal-averaged electrocardiogram is more useful to detect myocarditis associated with KD than the other conventional tests. However, we could not define the prognostic value of abnormal signal-averaged electrocardiograms during this study period.     

儿童Ebstein畸形的外科治疗

目的 探讨儿童Ebstein畸形的外科治疗方法.方法 回顾性分析儿童Ebstein畸形的外科治疗.自1992年8月至2010年8月共外科治疗Ebstein畸形31例,其中男13例,女18例,年龄6个月至15岁,平均(6.9±1.6)岁,体重5.5～53kg,平均(19.6±4.7)kg.心功能(NYHA)Ⅰ级9例,Ⅱ级15例,Ⅲ级7例.31例均经彩色多普勒超声心动图确诊,隔瓣、后瓣下移1.5~6.5cm,6例伴不同程度前瓣下移.三尖瓣轻度反流4例,三尖瓣中度反流16例,重度反流11例.本组2例无合并畸形,合并房间隔缺损20例,卵圆孔未闭9例,室间隔缺损3例,肺动脉瓣狭窄2例,三尖瓣狭窄2例,动脉导管未闭1例.手术方法全组均在体外循环下行三尖瓣成形术,23例应用Carpentier法,Carpentier分类A型1例,B型16例,C型6例,其中5例加行双向格林术,1例留有3mm房间隔缺损;8例应用Danielson法,Carpentier分类A型2例,B型6例,其中2例加行双向格林术,并对两种方法进行对比分析.结论 Carpentier法术后无死亡,术后心功能均为Ⅰ级,复查超声心动图示9例三尖瓣无明显反流,13例轻度反流,1例中度反流.Danielson法死亡1例,死亡原因为术后心律失常、持续低氧血症;术后存活病例心功能均为Ⅰ级,3例三尖瓣无明显反流,3例轻度反流,2例中度反流;1例患儿并发Ⅲ度房室传导阻滞,术后3个月转为窦性心律.结论 Ebstein畸形的变异较大,治疗须慎选手术方法,Carpentier法较为理想,同时根据三尖瓣结构和右室功能决定是否加行双向格林术.

Abstract：

Objective To study the surgical treatment for Ebstein's anomaly in children.Methods From August 1992 to August 2010,there were 31 cases of Ebstein's anomaly in children underwent surgical repair,including thirteen males and eighteen females,aged from 6 months to fifteen years[mean(6.9±1.6) years] and the weight was from 5.5 to 53.5 kg[mean(19.6±4.7)kg].Eight patients underwent Danielson repair of tricuspid valve,among these 2 patients were added bidirectional Glenn operation;23 patients underwent Carpentier repair of tricuspid valve,among these 5 patients were added bidirectional Glenn operation.The results of 31 cases of Ebstein's anomaly in children were retrospectively analyzed.Results There was no postoperative death with Carpentier repair of tricuspid valve.All survivals were in New York Heart Association class Ⅰ.Postoperative tricuspid regurgitation was markedly improved,echocardiography showed disappearance of tricuspid incompetence in 9 patients,mild incompetence in 13 and moderate incompetence in 1.There was one postoperative death with Danielson repair of tricuspid valve,and main causes of death were tachyarrhythmia and continuance hypoxia.All survivals were in New York Heart Association class Ⅰ.Postoperative echocardiaography showed disappearance of tricuspid incompetence in 3 patients,mild competence in 3 and moderate mild competence in 2. No reoperation for residual or recurrent tricuspid incompetence was required in all survivals. Conclusions In spite of the variable degree of Ebstein's anomaly present,the majority of patients can undergo a surgical repair.Tricuspid reconstruction should be the first choice of surgical procedures whenever possible in children.Carpentier repair of tricuspid valve is the best procedure at present.The bidirectional Glenn could be adopted according to the function of tricuspid valve and right ventricle.     

Suitable analyzed signal duration and criteria for abnormal signal-averaged electrocardiogram on frequency-domain analysis in patients with Duchenne's muscular dystrophy

To establish the criteria for an abnormal signal-averaged electrocardiogram (SA-ECG) in patients with Duchenne's muscular dystrophy (DMD), we used the technique of fast-Fourier transformation and studied the effects of analyzed signal phase and attenuation of low frequency components by filter processing. Twenty-three patients with DMD and twenty age-matched healthy voluneers were studied. An abnormal SA-ECG was defined as an area ratio of high frequency components/low frequency components over the 97th percentile of normal controls. Frequency domain analysis of the terminal 40 ms of the QRS complex and 80 ms of the initial ST segment was most predictive for distinguishing DMD patients at risk for ventricular tachycardia (VT). Although filter processing reduced the power of low frequency components and increased the area ratios, the sensitivity for the prediction of VT was not significantly enhanced. The area ratios of 40–100 Hz/0–40 Hz were superior to the area ratios of 20–50 Hz/0–20 Hz for predicting patients with VT.     

Echocardiographic diagnosis of overriding tricuspid valve in a child with Ebstein's anomaly

Summary The M-mode echocardiographic diagnosis of overriding tricuspid valve rests on the ability to demonstrate simultaneously two atrioventricular valves with no intervening septal echo [6, 13]. When scanning inferiorly toward the body of the ventricles, a distinct septal echo at the level of the midportion of the tricuspid valve can be detected. Here we report a case of Ebstein's anomaly, pulmonary stenosis, and ventricular septal defect (VSD), in which the echogram falsely indicated an overriding tricuspid valve.     

Longitudinal evaluation of anthracycline cardiotoxicity by signal-averaged electrocardiography in children with cancer

BACKGROUND: The aim of the present study was to investigate the detection of anthracycline cardiotoxicity by signal-averaged electrocardiography (SAE) in children with cancer. METHODS: There were 29 patients with a cumulative anthracycline (ATC) dose of 75-600 mg/m2. None of them had congestive heart failure. Patients underwent SAE just before (detection of chronic cardiotoxicity) and just after (detection of acute cardiotoxicity) ATC therapy. Echocardiography and Holter electrocardiography were performed at the same time. The rates of abnormal SAE, echocardiography, and electrocardiogram findings were calculated and compared for every 100 mg/m2 of ATC. RESULTS: The SAE showed a significantly higher detection rate for acute cardiotoxicity was at a cumulative ATC dose of less than 400 mg/m2 when compared with other methods (P < 0.05). The lowest dose at which acute cardiotoxicity was detected by SAE was 117.3 mg/m2. The detection of chronic cardiotoxicity by SAE was significantly higher at a cumulative ATC dose of 100-400 mg/m2 when compared with other methods (P < 0.05), and the lowest value showing toxicity was 373.3 mg/m2. The lowest ATC dose causing chronic cardiotoxicity was significantly lower in patients less than 2-years-old (120.0 +/- 28.3 mg/m2) than in the other age groups (P < 0.05). CONCLUSIONS: Acute and chronic ATC cardiotoxicity were detected by SAE at lower cumulative doses compared with other methods. The technique of SAE was a potentially useful method for detection of cardiotoxicity among those investigated and it provides useful information on subclinical cardiac dysfunction in patients receiving ATC therapy.     

Signal-averaged electrocardiogram in children and adolescents with insulin-dependent diabetes mellitus

We report on the potential usefulness of the signal-averaged electrocardiogram (SA-ECG) in young patients with insulin-dependent diabetes mellitus (IDDM) to predict subclinical cardiovascular complications. Sixteen patients with IDDM and 18 age-matched healthy subjects were studied. The IDDM group included 4 males and 12 females, aged 7 to 20 y (mean 14.2 +/- 3.8 y, +/- SD). The duration from the onset of IDDM to the study ranged from 1.2 to 9.8 y (mean 5.4 +/- 3.8 y), and HbAlc value ranged from 6.6 to 12.4% (mean, 10.0 +/- 1.8%). SA-ECG was recorded and analyzed using the methods described by Simson. Values of filtered QRS duration (f-QRS), root mean square voltage (RMS), the duration of low amplitude signal (LAS) and late duration (LD) were calculated and compared between the groups. These parameters were not significantly different between the IDDM and control groups. However, in patients with poor glycemic control (HbAlc >10%), f-QRS was long and RMS was significantly low (p < 0.05, each) compared with the control group. Three patients with IDDM were positive for ventricular late potentials, although none had ventricular tachyarrhythmia. None of the control subjects showed ventricular late potentials. CONCLUSION: Certain parameters of SA-ECG showed abnormal values in IDDM patients with poor glycemic control. Thus, SA-ECG is a potentially useful and non-invasive method for the assessment of subclinical cardiac impairment in diabetic children and adolescents.     

Ebstein's malformation of the mitral valve: Association with aortic obstruction

Ebstein's malformation of the mitral valve is associated with high mortality, especially when it presents during the newborn period. Special attention should be given to the diagnosis of aortic obstruction in this unusual variant, as it is associated with a particularly poor prognosis.     

Ebstein's malformation of the mitral valve in atrioventricular and ventriculoarterial concordance

Summary Clinical and pathological data of a full-term male newborn with Ebstein's malformation of the mitral valve are reported. Moderate cyanosis and progressive heart failure were present from birth and he died on the fourth day after birth, with clinical evidence of severe aortic coarctation. Necropsy revealed a severely dysplastic mitral valve, with anatomical features of Ebstein's anomaly, in the absence of corrected transposition but associated with aortic coarctation.     

儿童肥厚型心肌病的心电异常及处理

肥厚型心肌病（HCM）是儿童和青少年猝死的常见原因之一, 儿童期猝死事件主要归因于室性心律失常。HCM的心电活动异常与其心肌肥厚的组织学特点和遗传性病因相关, 虽然心电异常缺乏特异性, 但某些异常对预测心电不良事件具有一定的敏感性, 或可提示潜在病因,可以为儿童HCM的病因诊断和高危患者的筛查及管理、 植入式心律转复除颤器治疗指征的把握提供有价值的依据。     

Intracranial Hodgkin's disease in two patients with familial Hodgkin's disease

Intracranial Hodgkin's disease is very rare and is often a terminal event. The case of a 33-year-old man who relapsed in the anterior pituitary gland without other evidence of disease 6 months after extended field radiation therapy for Stage IIA Hodgkin's disease is presented. He remains well with no evidence of disease five years after surgery and chemotherapy for intracranial relapse. The case of a 16-year-old boy with a dural relapse of Hodgkin's disease associated with positive cerebrospinal fluid cytology is also presented. These two patients are members of different families each with multiple cases of Hodgkin's disease. Central nervous system involvement with Hodgkin's disease may be more frequent in familial Hodgkin's disease in which immune deficiency is common. Med. Pediatr. Oncol. 28:255–258. © 1997 Wiley-Liss, Inc.     

Cardiorespiratory Exercise Tolerance in Asymptomatic Children with Ebstein's Anomaly

The aim of the study was to evaluate cardiorespiratory exercise tolerance in asymptomatic children with Ebstein's anomaly. Eleven children with a mean age of 9.6 years were prospectively studied by spirometry, cardiopulmonary exercise testing (bicycle ergometer n= 8, treadmill test n= 3), and contrast echocardiography. A right-to-left atrial shunt was detected by contrast echocardiography in 7 children (group 1), whereas no shunt was found in 4 (group 2). VO₂ max was decreased [84.5 (SD = 16.8)] and was strongly correlated to oxygen saturation in group 1 (p < 0.0001). Oxygen saturation at peak uptake was significantly decreased compared to baseline [97.4 (SD = 2.0) vs 90% (SD = 9.5%), p= 0.02] and was significantly lower in group 1 than in group 2 [85.7 (2.2) vs 98.2% (SD = 1.2%), p= 0.03]. Oxygen desaturation was related to a right-to-left atrial shunt (p= 0.01). Decreased VO₂ max was also correlated to the small size of the left ventricle (p= 0.05). We concluded that decreased exercise tolerance in children with asymptomatic Ebstein's anomaly is related to a right-to-left atrial shunt and to a small left ventricle. In case of poor exercise tolerance, a contrast echocardiography should be performed to detect an atrial septal defect.     

Inhaled Nitric Oxide Therapy in a Critically Ill Neonate with Ebstein's Anomaly

The successful use of nitric oxide (NO) inhalation in a critically ill neonate with Ebstein's anomaly of the tricuspid valve is reported for the first time. This use of inhaled NO therapy suggests a therapeutic intervention that directly addresses the pathophysiologic process of severe neonatal Ebstein's anomaly.     

Early use of probiotics is important therapy in infants with severe congenital anomaly

Background: Infants with severe congenital anomaly often need to undergo operation followed by antibiotic therapy. As a result they inevitably acquire abnormal intestinal microbiota, which cause severe infections such as necrotizing enterocolitis. Also, intestinal function deteriorates and their nutritional state is very poor. In order to prevent these situations probiotic therapy is proposed as an effective supporting treatment. Probiotic therapy were therefore applied to infants with severe congenital anomaly as early as possible to ascertain its efficacy. Methods: As probiotics, two bacteria were used: Bifidobacterium breve Yakult and Lactobacillus casei Shirota. Probiotic therapy was used in four infants with severe congenital anomaly as early as possible after surgery. Their intestinal microbiota and physical growth were followed through the treatment course. Results: Two patients suffered from meconium peritonitis with ileal atresia. One patient was born with complex anomalies (omphalocele, bladder exstrophy, myelomeningocele). The fourth patient suffered from complete urorectal septum malformation. The intestinal microbiota of these four patients was first induced to be probiotic dominant and finally changed to commensal anaerobe dominant that was similar to normal intestinal microbiota. Pathogenic bacteria were seldom detected. The patients' physical growth was excellent despite short bowel and pulmonary hypoplasia. Conclusion: Probiotic therapy was effective in inducing probiotic dominant intestinal microbiota and normal intestinal microbiota in infants with severe congenital anomalies. As a result their intestinal absorptive functions were activated and severe infections were completely prevented. All of the infants grew well despite their physical disadvantages.     

��ͯ��������������ʧ����Դ��λ�ĵ�ͼ��λ̽��

??Objective??To investigate the utility of the electrocardiogram??ECG?? for differentiating origins of outflow tract ventricular arrhythmias??OTVAs?? in children. Methods??From January 2009 to July 2015??94 children with OTVAs were involved in this study??who were managed by radiofrequency catheter ablation??RFCA??. The 4 types of ECG algorithm???1??V1/V2 R wave duration index and amplitude index????2??V2 transition ratio????3??Transition zone index????4??V2S/V3R index??were used to predicting the origins of OTVAs and the accuracy of prediction was compared with the results of RFCA. Results??The positive predictive rate of 4 kinds of ECG algorithm localizing the right ventricular outflow tract??RVOT?? ventricular arrhythmia in children was 78.6%??88.2%??the sensitivity was 85.5%??91.3%??and the specificity was 36.0%??68.0%. The positive predictive rate of 4 kinds of ECG algorithm localizing the left ventricular outflow tract??LVOT?? ventricular arrhythmia was 47.4%??71.4%??the sensitivity was 36.0%??68.0%??and the specificity was 85.5%??91.3%. The positive predictive rate of 4 kinds of ECG algorithm localizing the LVOT ventricular arrhythmia in children was 47.4%??71.4%??the sensitivity was 36.0%??68.0%??and the specificity was 85.5%??91.3%. However??the subgroup analysis showed that for OTVAs originating from LCC??the positive predictive value??sensitivity and specificity were much higher than RCC origin of ventricular arrhythmia??predictive value??66.67%??90.90% vs. 10.00%??15.38%??sensitivity??83.33%??100.00% vs. 20.00%??60.00%??specificity??57.58%??90.91% vs. 50%??76.47%??. Conclusion??However??the 4 kinds of ECG algorithm used in adults are limited to predict the LVOT ventricular arrhythmias in children. If LVOT origin group is divided into the LCC and RCC origin groups??the results show that in LCC group the prediction level increases significantly.     

Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis,generalized lymphatic anomaly,and central conducting lymphatic anomaly

Complex lymphatic anomalies are debilitating conditions characterized by aberrant development of the lymphatic vasculature (lymphangiogenesis). Diagnosis is typically made by history, examination, radiology, and histologic findings. However, there is significant overlap between conditions, making accurate diagnosis difficult. Recently, genetic analysis has been offered as an additional diagnostic modality. Here, we describe four cases of complex lymphatic anomalies, all with PIK3CA variants but with varying clinical phenotypes. Identification of PIK3CA resulted in transition to a targeted inhibitor, alpelisib. These cases highlight the genetic overlap between phenotypically diverse lymphatic anomalies.     

Castleman's disease of the mesentery in a child: A case of seven years' duration without typical x-ray findings

This report describes a 9-year-old boy with intermediate variant type of giant lymph node hyperplasia or Castleman's disease (CD) originating from the mesentery. He had symptoms and signs related to the disease for seven years before the final diagnosis. The patient's general condition remained good, except for periods of fever and abdominal pain. Pallor and slow growth were the only abnormal findings on physical examination during the follow-up. Laboratory measurements showed worsening microcylic anemia, low serum iron level, and low iron stores in bone marrow samples. The erythrocyte sedimentation rate (ESR) increased to 110 mm/h, and the serum levels of C-reactive protein varied between 80 and 120 mg/l. The level of serum albumin was low, 25–28 g/l, and serum immunoglobulin G was somewhat elevated, varying between 17–13 g/l. The radiologic examination of intestine gave pathological results suggesting a small bowel disease, but no tumor was detected. The abnormal laboratory values and symptoms of the patient resolved completely after surgical removal of the mass. Med. Pediatr. Oncol. 28:362–365, 1997. © 1997 Wiley-Liss, Inc.