目的 探讨及分析不同基因型TSC患儿CR发病情况及其位置、大小及随诊变化情况.方法 回顾性分析经临床确诊并行基因检测的TSC患儿88例,按其基因检测结果分为3组:TSC1组、TSC2组及TSC阴性组,对比分析各组CR的发病率、位置分布及其大小,并对部分随诊患儿肿瘤大小变化进行相关因素分析.结果 不同基因组间CR的发生率、在心脏各腔室占比及具体位置分布均无明显统计学差异(P＞0.05).TSC阴性组CR的最大径明显小于TSC1组及TSC2组(P＜0.05).随诊患儿中CR减小或消失与初诊年龄有统计学差异(P＜0.05),ROC曲线提示14.5个月龄之前初诊CR,肿瘤缩小或消失的可能性较大.结论 超声心动图可以明确诊断CR,并对其进行随访监测.TSC各基因组间CR的发生率及位置分布无明显差异,无基因突变组CR大小明显小于基因突变组.CR初诊年龄＜14.5个月龄可作为一项预测CR缩小或消失可能性的指标.

Objective: To investigate the clinical value of transthoracic echocardiography (TTE) measured pulmonary artery parameters and pulmonary valve annulus Z scores for choosing the type of operation in complete repair of pediatric tetralogy of Fallot (TOF) Methods: A total of 143 patients received complete repair of pediatric TOF in our hospital were retrospectively studied. The patient's median age was 8 (1-171) months. Based on the type of operation, patients were divided into 2 groups: Trans-annular patch group, n=100 and Valve sparing repair group, n=43. Conventional TTE parameters, right ventricular outflow parameters and pulmonary valve annulus Z scores were compared between 2 groups; pulmonary valve annulus diameters measured by TTE and surgery were studied by correlation analysis. Results: Compared with Valve sparing repair group, Trans-annular patch group had decreased left ventricular end diastolic diameter (23.14±3.82) mm vs (25.23±4.56) mm, pulmonary valve annulus diameter (8.52±2.18) mm vs (10.01±2.61) mm and main pulmonary artery diameter (67.31 vs 82.91) all P<0.05. With reduced value of pulmonary valve annulus Z scores, the constituent ratio in Trans-annular patch group was gradually increasing and in Valve sparing repair group was gradually decreasing, all P<0.05. Correlation analysis indicated that pulmonary valve diameters measured by TTE and surgery had moderate agreement (r=0.581, P<0.001). Conclusion: TTE measured pulmonary valve annulus diameter, main pulmonary artery diameter and pulmonary valve annulus Z scores were the objective parameters provided to surgeon at pre-operation, which had clear clinical value.

Objective To investigate the diagnosis and prognosis of patients with coronary artery aneurysm in Kawasaki disease.Methods The data of ultrasonic diagnosis and follow-up of 338 children with Kawasaki disease complicated with coronary artery aneurysms were analyzed.Results The incidence of coronary artery aneurysm in the acute stage of Kawasaki disease was 21.2％ (338/1 594).Of all the 338 cases,small aneurysms was 66.6％ (225 cases),medium aneurysms was 25.1％ (85 cases),and giant aneurysms was 8.3％ (28 cases).There were 719 branches involved in 338 cases,32.8％ of them in left main coronary artery and 31.1％ in right coronary artery;25.3％ in left anterior descending branch,and 10.8％ in left circumflex branch.A total of 382 branches were followed up,including 218 branches of small coronary aneurysm group and 82.1％ of them were completely recovered to the normal diameter.The medium aneurysm group was 124 brunches,the proportion of no significant change,retraction,and normal were 23.4％,68.5％ and 8.1％,respectively.There were 40 brunches in the giant anuerysm group,in which the proportion of no significant change,retraction,and normal were 70.0％,27.5％ and 2.5％,respectively.A total of 30 thrombosiswere detected by echocardiography in the acute stage,20 thrombosis were regularly followed up,12 thrombosis gradually subsided,and the other remained persist.Five thrombosis were detected in the sequelae stage,and all located in the giant coronary aneurysm.Seven children were clinically diagnosed with ischemic heart disease,of them,acute myocardial infarction in 1 case,1 died of heart failure.Conclusions Kawasaki disease coronary artery disease are common in small coronary aneurysms,of which the left main artery and right coronary artery lesions are the most common,and the prognosis is better;medium and giant aneurysm need more time to recovery,and are easy to complicated with thrombosis.

目的 探讨儿童暴发性心肌炎临床特点及超声心动图在其诊疗过程中的应用价值.方法 回顾性分析35例我院确诊暴发性心肌炎患儿病历资料、超声心动图报告及图像,对其首发症状、实验室检查、心电图和超声心动图特征等进行总结分析.结果 35例患儿(中位年龄107个月),首发症状多不典型,起病急,病情重.患儿心肌酶增高者25例(89.3％)、心律失常者28例(87.5％)、心功能减低者23例(71.8％)、心室壁增厚者9例(28.1％)、心包积液者15例(46.8％)、合并血栓形成2例(6.2％).结论 儿童暴发性心肌炎有明确的临床特征,且超声心动图在儿童暴发性心肌炎诊疗及预后评估中具有重要价值.

Berry综合征是一种组合的先天性心脏畸形.经胸超声心动图是评价这种少见心内畸形的重要影像技术.本研究回顾分析了12例Berry综合征的病历资料,均由超声心动图首诊,并经心脏CT及手术证实.不常见的临床表现,超声心动图表现,心脏外合并症表现均进行了报道,其中心脏外表现包括先天性肺气肿和尿道下裂.

Objective To investigate the value of echocardiography application in the diagnosis of large amount of pericardial effusion (PE) in children by retrospective etiology and prognostic analysis.Methods A total of 68 children with large amount of PE admitted in Beijing Children's Hospital,Capital Medical University from March 2010 to March 2016 were reviewed retrospectively,and the echocardiographic presentations,etiology diagnosis,treatment,and prognosis were analyzed.Results Analysis indicated that the etiology diagnosis ratio was 97.1％ (66/68 cases),the effective ratio of the medical treatment was 71.8％ (46/64 cases),and the mortality rate was 7.8％ (5/64 cases).The morbidity was ranked from high to low as follow:large amount of PE included infectious pericarditis 27 cases,tumor associated PE 14 cases,postpericardiotomy syndrome and cardiotrauma 14 cases,systemic diseases 6 cases,vasa lymphatic related diseases 5 cases and idiopathic PE 2 cases.PE resulted from tumor associated PE and vasa lymphatic diseases had lower cure rate than the overall cure rate,and there were statistical significance (28.6％ vs.71.8％,x2 =9.092,P =0.003;20.0％ vs.71.8％,x2 =5.059,P =0.018).Thirty-five children received pericardiocentesis or fenestration drainage.Chylopericardium was restricted to vasa lymphatic diseases.All tumor associated PE had the hemorrhagic PE.The strong echo point in the pericardial cavity might indicate implication for hemorrhagic PE (x2 =5.166,P =0.023).The abnormal mass detected by echocardiography might indicate the tumor related or infectious causes.Conclusions The etiology of large amount of PE could be determined in most of children.As the preferred diagnosis method,echocardiography could help etiological diagnosis combined with clinical manifestation.

Objective To summarize the echocardiographic findings and clinical characteristics of Kawasaki disease(KD) complicated with coronary artery thrombosis (CAT).Methods Thirty-five patients with KD combined with CAT were enrolled,who were admitted to Beijing Children's Hospital,Capital Medical University between July 2005 and August 2016.The clinical characteristics and echocardiographic findings during follow-ups were retrospectively studied.According to whether the childrenhad been complicated with myocardial ischemia,the patients were divided into 2 groups:ischemic group and non-ischemic group.The duration of fever,the time when the intravenous immunoglobulin(IVIG) was first injected,the time when coronary artery aneurysms (CAA) was formed,the maximum diameter of CAA and inflammatory index inthe acute phase were compared between 2 groups.Results All of the 35 children diagnosed as KD combined with CAT suffered firom CAA,and the coronary thrombosis was detected in all the cases with aneurysms.Thirty-five patients had 99 branches of CAA,of which the maximum diameter of CAA was (9.6 ± 3.1) mm(4.0-19.0 mm).Fifty-four plots of CAT were detected in the aneurysms.The diameter of CAA that thrombosis located was larger than that of which the thrombosis was not located[(10.9 ± 2.8) mm vs.(7.9 ± 2.6) mm],and the difference was significant(P ＜0.01).During 4 months to 10 years and 8 months [(39.2 ±29.5) months] follow-ups,CAA regressed in 32 branches [32.3％ (32/99 branches)],of which 4 branches [4.0％ (4/99 branches)] completely regressed to the normal diameter.The maximum diameter of CAA regressed was smaller than the maximum diameter of CAA consistence [(7.3 ± 1.9) mm vs.(10.6 ± 3.0) mm],and the difference was significant (P ＜ 0.01).Out of 35 patients,15 cases [42.9％ (15/35 cases) had myocardial ischemia,while the other 20 cases[57.2％ (20/35 cases)] didn't have.Among 15 cases with myocardial ischemia,6 cases[17.1％ (6/35 cases)] had myocardial infarction,4 cases [11.4％ (4/35 cases)] had heart failure,and 1 case[2.9％ (1/35 cases)] died of acute heart failure complicated with severe ventricular arrhythmia.Compared with non-ischemic group,the children in the ischemic group had longer duration of fever[(19.1 ± 7.8) d vs.(12.1 ± 3.3) d],higher white blood cell account in the acute phase[(24.8 ± 13.5) × 1012/L vs.(19.7 ±4.0) × 1012/L],later treatment of IVIG [(13.9 ± 5.5) d vs.(9.8 ±3.8) d],and earlier CAA formation [(16.0 ±4.9) d vs.(20.9 ± 14.5) d],and the differences were statistically significant (all P ＜ 0.05).Conclusions CAT of children with KD commonly originates from CAA.Patients who have more serious inflammatory reaction in the acute phase,earlier formation,heavy severity and longer consistence of CAA are prone to have myocardial ischemia.Echocardiographic study plays an important role in monitoring CAA,detecting the CAT and finding the early left ventricle dysfunction,which is of clinical significance.

>Dear Editor,Berry syndrome is a rare combination of congenital cardiac malformations characterized by four abnormal features;namely,an aortopulmonary window(APW),aortic origin of the right pulmonary artery,hypoplasia or interruption of the aortic arch,with an intact ventricular septum.The disease was first reported by Berry in 1982,who estimated the incidence within the population with congenital cardiac malformations to be 0.046%(Berry et al.,1982).Until recently,

主动脉缩窄是主动脉局部管腔狭窄性病变，常合并室间隔缺损、动脉导管未闭等其他心血管畸形［1］，占先天性心脏病的1.1%～14.0%，男性发病率较女性高2～5倍［2-4］。近年来随着超声技术的发展和诊断水平的提高，超声心动图检查在主动脉缩窄的诊断中有重要作用。本组回顾性分析362例主动脉缩窄患儿的超声心动图资料，旨在探讨其超声心动图特点和诊断价值。

目的 探讨伴有左心室收缩功能降低患者主动脉缩窄的特点以及超声心动图在其诊断、术后随访中的临床应用价值.方法 选取我院主动脉缩窄患者102例,根据左心室射血分数(EF)数值将其分为EF降低组(EF＜60％)及EF正常组(EF≥60％),通过比较两组患者超声表现,总结伴有左心室收缩功能降低的主动脉缩窄的特点.对EF降低组中手术者分别于术后1d、术后1个月和术后6个月行超声心动图随诊,并与术前对比.结果 EF降低组17例,经增强CT或手术证实,超声确诊15例,误诊2例.EF降低组与EF正常组相比,孤立型主动脉缩窄多见,往往伴左心室舒张末期内径重度增大、左心室心内膜回声粗糙、冠状动脉近段内径增宽,两组比较差异有统计学意义(x2=8.745、13.246、32.750、8.330,P均＜0.05);两组在狭窄程度、缩窄形态、室间隔及室壁增厚构成上差异无统计学意义(Z=-1.532,x2=0.222、0.678,P均＞0.05).EF降低组中12例患者经手术矫治并术后超声随诊,术后1d、1个月、6个月各时段狭窄修复处内径及压差、左心室舒张末期内径与术前比较差异均有统计学意义(t=-9.969、-9.987、-11.265,=6.463、5.108、5.632,=4.986、5.713、7.219,P均＜0.05).左心室EF值在术后1d与术前比较差异无统计学意义(t=-2.217,P＞0.05);在术后1个月、术后6个月与术前比较差异有统计学意义(t=-3.999、-9.198,P均＜0.05),术后6个月左心室EF值均值＞60％.结论 伴有左心室收缩功能降低的主动脉缩窄有特征性超声表现,超声心动图对其诊断及术后评价具有重要价值.

目的 探讨孤立型主动脉缩窄的超声特点以及超声心动图在其诊断、术后随访中的临床应用.方法 选取我院主动脉缩窄患儿73例,根据是否合并其他先天性心脏畸形分为孤立型组及非孤立型组,通过比较两组超声表现,总结孤立型特点.对孤立型组中手术者行术后超声随诊,并与术前对比.结果 孤立型主动脉缩窄14例,均经增强CT或手术证实,超声确诊12例,漏诊2例.孤立型与非孤立型相比,狭窄程度重,多伴左心室收缩功能减低、冠状动脉病变、左心室心内膜回声异常、室间隔及室壁增厚等继发表现,两组间差异有统计学意义(P＜0.05);两组在缩窄形态构成上差异无统计学意义(P＞0.05).孤立型组中12例经手术矫治并术后超声随诊,术后1d、6个月、1年各时段狭窄修复处内径、压差与术前比较差异均有统计学意义(P＜0.05).1例术后3年发生主动脉再缩窄.结论 孤立型主动脉缩窄有特征性超声表现,超声心动图对其诊断及术后评价具有重要价值.

Objective: To evaluate the post-operative complication of pulmonary vein stenosis in patients with total anomalous pulmonary venous connection (TAPVC) by echocardiography. <br> Methods: A total of 66 TAPVC pediatric patients with surgical repair in our hospital were retrospectively studied. The peri-operative and mid-term post-operative echocardiography was conducted to evaluate the complication of pulmonary vein stenosis. <br> Results: The peri-operative and mid-term post-operative echocardiography presented the increased left ventricular diastolic end diameter (LVEDd) and decreased right ventricular diameter in all 66 patients, P<0.05. There were 6 patients with pulmonary vein stenosis showed high velocity Doppler signals at atanastomosis. The peri-operative echocardiography in those 6 patients showed increased LVEDd, decreased right ventricular diameter and pulmonary artery pressure, all P<0.05. The mid-term post-operative echocardiography in those 6 patients indicated increased LVEDd, P<0.05, while the right ventricular diameter and pulmonary artery pressure were similar before and after the operation, P>0.05. <br> Conclusion: Echocardiography may monitor the operative effect of TAPVC, the occurrence of post-operative pulmonary vein stenosis could be found by examining right ventricular diameter and pulmonary artery pressure in pediatric patients.

OBJECTIVE:To obtain normal range of coronary artery diameter with body surface area (BSA) dynamic changes in normal children at different age. METHOD:The left main coronary artery (LCA), left anterior descending artery (LAD), left circumflex artery (LCX) and the right coronary artery (RCA) diameter were measured in 400 normal subjects from Chinese population aged 0 d to 18 years [(6.43 ± 4.45) years], using HP Sonos 5500 color Doppler ultrasonic system, according to the standard method of measuring the coronary artery diameter. RESULT:(1) The diameters of LCA, LAD, LCX and RCA in different age groups (0 d-12 months, -3 years, -6 years, -9 years, -12 years, -18 years) had significant differences (F = 61.688, 51.343, 46.375, 50.192, P < 0.01,all groups mean differences had significant differences, there was significant difference between every two groups, P < 0.05), there were no significant differences between male and female subjects (P > 0.05). (2) The correlation analyses showed that the diameter of LCA, LAD, LCX and RCA had significant linear correlations with age, height, weight and BSA (r ranged from 0.71 to 0.85, P < 0.01 ). (3) The regression analyses were respectively performed on the diameters of LCA, LAD, LCX and RCA with BSA to establish seven regression models. The coefficients were compared for each model, the best model was chosen to create a Z score calculator, tracing out the Z value curve, through clinical practice,we chose Z score within ± 2 as the coronary artery diameter's normal range for Chinese children. CONCLUSION:Coronary artery diameter's Z score curve is effective and reliable, it provide objective basis for clinicians and sonographers to accurately and quickly diagnose the anomalies in diameter of coronary artery.

ObjectiveTo evaluate the value of echocardiography in the diagnosis of cardiovascular abnormalities in Williams syndrome.MethodsThe clinical data and echocardiagraphic characteristics of 15 patients(11 males and 4 females)with Williams syndrome were studied retrospectively,who were diagnosed in our hospital between August 2008 and February 2012.These cases were aged 2 months to 15 years and 10 months.ResultsSupravalvular aortic stenosis was found in 15 cases by echocardiography.Two-dimensional echocardiogram showed the narrowing of supravalvular aorta.And color flow doppler examination can demonstrate the chaotic colorful bloodstream and estimate the pressure of the stenosis.Of all the patients,there were 4 cases without any other abnormalities,11 cases with pulmonary artery stenosis,5 cases with coronary artery widened,3 cases with thick left ventricular wall,2 cases with aortic stenosis,and 1 case with mitral valve prolapse.Seven cases had other congenital heart disease, including 2 coarctation of the aorta,1 ventricular septal defect,2 atrial septal defect,2 patent ductus arteriosus.Fifteen patients underwent multislice spiral CT enhanced scan,and 5 patients underwent surgical operation.The diagnoses were consistent with the findings on ultrasound.ConclusionsSupravalvular aortic stenosis is the most common cardiovascular abnormalities of Williams syndrome.Echocardiography can accurately diagnose and evaluate the cardiovascular abnormalities of Williams syndrome.It may be the first diagnostic choice of Williams syndrome.

Objective To assess the value and limitation of echocardiography in the diagnosis of total anomalous pulmonary venous connection (TAPVC).Methods Forty-four cases of pediatric TAPVC patients in Beijing Children′s Hospital from June 2009 to December 2011 were retrospectively analyzed.The echocardiography characteristics including direct and indirect signs,described the subtype and pulmonary vein anomaly according to the characteristics of drainage path were ummarized and compared with surgical treatment .Results All the 44 patients with confirmed TAPVC were included in this study .The common clinical presentations of the patients included:the direct signs were the smaller left atrium ,no entrance of pulmonary vein in the left atrium and four veins forming a common confluence just beside it;the indirect signs included enlargement of right atrium and right ventricle.Color Doppler flow imaging showed total interatrial right to left shunt .The specific types of TAPVC were as followed:supra-cardiac(63.6%,28/44),cardiac(27.3%,12/44),infra-cardiac(2.3%,1/44)and mixed(6.8%,3/44).The supra-cardiac type were further divided into 3 subtypes according to the drainage path:right and left veins forming a common confluence,then draining into vertical and innominate veins(26 cases);right and left pulmonary veins separately draining into superior vena cava(1 case);common confluence of pulmonary vein draining into superior vena cava through a vertical vein(1 case).The cardiac type were further divided into 2 subtypes:coronary sinus(10 cases),right atrium(2 cases).Infra-cardiac type had no subtype(1 case).Mixed type was more complex,both of the two subtypes were ′3+1′(3 cases).Drainage path stenosis and pulmonary vein anomaly were common variations.The diagnostic accuracy of drainage position and path in the study were 97.7%(43/44) and 93.2%(41/44).Conclusions Echocardiography is one of the simplest and most efficient modality for the diagnosis and typing of TAPVC ,with high diagnostic accuracy.The diagnosis of drainage path and variation of pulmonary veins are difficult .

目的 探讨小儿心脏横纹肌瘤的超声心动图特点,分析小儿心脏横纹肌瘤与结节性硬化症之间的关系.方法 使用彩色多普勒超声诊断仪,对59例已确诊为结节性硬化症的患儿进行多切面探查,并结合患儿临床特征及辅助检查,分析其与心脏横纹肌瘤的关系,总结小儿心脏横纹肌瘤的超声心动图特点.结果 59例临床确诊的结节性硬化症患儿中,发现有心脏横纹肌瘤的35例(占59％),其中8例为超声首先发现心脏横纹肌瘤,后经临床其他检查确诊为结节性硬化症.35例心脏横纹肌瘤患儿中,心脏多发部位肿瘤22例,以左心室内最多,形态以圆形或椭圆形偏强回声结节为特点,与心肌分界清楚.结论 小儿心脏横纹肌瘤与结节性硬化症密切相关.当超声医师发现心脏横纹肌瘤时要考虑是否患有结节性硬化症的可能；临床医师对结节性硬化症患儿均应行超声心动图检查,以确定有无心脏横纹肌瘤.以期在临床上对心脏横纹肌瘤及结节性硬化症做出早期诊断.

患儿男,11岁.因"腹痛,心前区痛7d,呕血2次"入院.超声心动图检查:经各切面探查各房室内径、大血管直径、冠状动脉情况、瓣膜活动及心内血流、降主动脉远端管壁及血流均未见明显异常.心包腔内未探及明确无回声区.经胸骨上窝切面探查显示主动脉弓降部移行区管腔宽约17.5 mm,其后外侧可探及一形态不规则、边界回声不清晰的低回声区域,宽约23.0 mm,长约29.0 mm,呈无搏动状态.该处主动脉内膜回声不清晰.沿主动脉升、弓降部可见主动脉内正常血流信号,主动脉全程未见明确撕剥撕裂的内膜反射.彩色多普勒显示低回声区域内未见明确血流信号.

目的 探讨超声心动图在肺动脉吊带诊断中的应用价值.方法 27例临床诊断为肺动脉吊带患儿,分析其超声心动图检查结果,并以增强CT检查及手术治疗证实.结果 27例肺动脉吊带患儿经超声心动图检查确诊20例,疑诊2例,漏诊3例,误诊2例.诊断正确率为74%.超声心动图显示肺动脉分叉消失,主肺动脉直接延续为右肺动脉,于右肺动脉发出异常起源的左肺动脉.2例疑诊是因患儿肺部疾患影响透声窗,观察受限;3例漏诊是肺动脉吊带合并动脉导管未闭,超声心动图仅诊断出动脉导管未闭;2例误诊是肺动脉吊带合并右旋心,超声心动图误诊为右肺动脉缺如.27例肺动脉吊带患儿中,7例单纯肺动脉吊带,20例合并其它心血管畸形.结论 应用超声心动图对肺动脉吊带可进行早期诊断,操作简单易行,既无创又有较强的可重复性,对提高该病的早期确诊率具有重要的临床应用价值.

目的探讨心内膜弹力纤维增生症(EFE)的超声心动图诊断价值。方法回顾性分析2008-03-2010-03在北京儿童医院住院确诊的65例EFE患儿的超声心动图表现及特点。结果 65例患儿均出现心脏增大、左室心内膜弥漫性增厚、左室收缩及舒张功能指标减低,59例存在不同程度的二尖瓣反流。结论超声心动图可以显示心脏大小、心内膜厚度、评估心功能改变,在EFE早期确诊中具有重要价值。

Objective To analyze the causes of misdiagnosis by echocardiography on pulmonary artery sling and evaluate the diagnosis value of echocardiography.Methods A total of 25 cases with pulmonary artery sling who confirmed by computer tomography and surgical operations from October,2006 to February,2010 were enrolled.Results All the 25 children with pulmonary artery were enrolled with respiratory symptoms.Eighteen confirmed cases,2 suspected cases and 5 misdiagnosis cases were taken by echocardiography.The disappearance of branch of pulmonary artery was presented in the 18 confirmed cases,and the left pulmonary artery was observed to rise from the right pulmonary artery by echocardiography.The accuracy rate of diagnosis was 72.0%(18 /25).The reason for the 2 suspected cases was limitation of observation caused by the lung diseases.As to the 5 misdiagnosis cases,3 of them had combination of pulmonary artery sling and patent ductus arteriosus,while the patent ductus arteriosus was just diagnosed by echocardiography without pulmonary artery sling.The other 2 cases were combination of pulmonary artery sling and dextroversion,which was misdiagnosed as right pulmonary artery absence by echocardiography.Six cases of the 25 children were single pulmonary artery sling,and the other 19 were combined with other cardio-vascular malformation.All the 25 children had tracheobronchial compression at different levels,and 23 of them had apparent tracheobronchial stenosis.Conclusion The pulmonary artery sling at the early phase was diagnosed by echocardiography.The misdiagnosis can be decreased by detecting pulmonary artery branch and the route for the left and right pulmonary artery.