Gerbode's defect--a rare type of ventricular septal defect

We report on an elderly lady in the sixth decade of life with congenital Gerbode's defect who refused surgery. She has atrial fibrillation, massive cardiomegaly and repeated episodes of lower respiratory tract infection.     

经胸超声在Amplatzer封堵器介入治疗先天性房室间隔缺损中的临床应用

目的探讨经胸超声在AmpLatzer封堵器介入治疗先天性房间隔缺损、室间隔缺损中的临床应用价值。方法术前应用经胸超声筛选封堵术适应证36例先心病,其中26例房间隔缺损、10例室间隔缺损。术中用经胸超声监测指导释放封堵器,即刻观察疗效。于胸骨旁四腔观、房间隔短轴观、心尖四腔观、心尖五腔观、大动脉短轴观、剑突下四腔心观分别观察封堵器的形态,瓣膜反流及封堵器周围分流情况。术后进行定期复查。结果26例房间隔缺损、10例室间隔缺损封堵成功,总成功率100%。其中16例出现二、三尖瓣反流或残余分流,经调整封堵器的位置和方向后,10例反流即刻消失,6例术后1个月消失。结论经胸超声可用来筛选房间隔缺损、室间隔缺损封堵术病例,术中指导Amplatzer封堵器定位和释放,疗效评估和预后评价方面有不可替代的临床应用价值。     

体外循环下室间隔缺损修补术同期纤支镜灌洗治疗小儿室间隔缺损并重症肺炎的疗效分析

目的探讨体外循环下室间隔缺损修补术同期纤支镜灌洗治疗小儿室间隔缺损并重症肺炎的临床效果。方法选取室间隔缺损并重症肺炎患儿20例,按照随机数字表法分为对照组(10例)和观察组(10例)。对照组实施常规治疗+体外循环下室间隔缺损修补术,观察组实施常规治疗+体外循环下室间隔缺损修补术+纤支镜灌洗。对比2组患儿体外循环时间、主动脉阻断时间、呼吸机辅助治疗时间、住院时间等手术相关指标,检测2组患儿治疗前、治疗后1个月及治疗后3个月的心功能与肺功能指标变化,统计2组患儿治疗后3个月的并发症发生率和病死率。结果2组患儿体外循环时间、主动脉阻断时间比较差异均无统计学意义(P>0.05),观察组呼吸机辅助治疗时间、住院时间均短于对照组(P<0.05)。2组患儿治疗后1个月及治疗后3个月的左心室射血分数(LVEF)、二尖瓣E峰/A峰(E/A)、动态顺应性和氧合指数均高于治疗前(P<0.05),左心室收缩时间间期(LVSTI)和呼吸做功均低于治疗前(P<0.05),治疗后3个月的心、肺功能指标与同组治疗后1个月比较差异均无统计学意义(P>0.05);观察组治疗后1个月及治疗后3个月的LVEF、E/A、动态顺应性和氧合指数均高于对照组(P<0.05),LVSTI和呼吸做功均低于对照组(P<0.05)。观察组治疗后3个月的并发症总发生率低于对照组(P<0.05),2组患儿病死率比较差异无统计学意义(P>0.05)。结论采用体外循环下室间隔缺损修补术同期纤支镜灌洗治疗小儿室间隔缺损并重症肺炎可改善患儿心肺功能,减少并发症,缩短患儿康复时间。     

室缺并重度肺高压的围手术期处理

目的 探讨室缺合并重度肺动脉高压的围手术期处理方法。方法 手术前静脉应用前列腺素E1一周；术中应用顺单向活瓣补片修补室缺；术后再静脉应用前列腺素E1两周。结果 符合诊断的病人21例，围术期死亡2例，19例安全渡过围手术期出院。结论 术前静脉应用前列腺素E1,术后应用前列腺素E1等药物和呼吸机治疗是该类病人顺利恢复的重要因素.     

The carotid bodies in a case of ventricular septal defect

A woman of 62 years with Turner's syndrome died in congestive cardiac failure secondary to a large ventricular septal defect with biventricular hypertrophy. During her last few months the lifelong left-to-right shunt underwent reversal exposing her carotid bodies to hypoxaemia. The carotid bodies were not enlarged, thus demonstrating that hyperplasia of glomic tissue is not brought about by increased myocardial mass per se. They were, however, abnormally cellular with more dark cells ( a variant of chief cells), many of which were abnormally large and showed ultrastructural features of metabolic activity. These changes may represent the earliest histological response of the carotid body to hypoxaemia and later, the dark cells may mature into the more familiar and common light variant. It seems likely that this dark cell activity precedes, probably by a long period, the sustentacular cell hyperplasia and proliferation of nerve axons which we have reported elsewhere as the chronic reaction of the carotid bodies to hypoxaemia.     

A case of right-side infective endocarditis with ventricular septal defect

A 28-year-old woman previously known to have a ventricular septal defect presented with fever, headache, abdominal pain and nausea. Positive blood culture of methicillin-sensitive Staphylococcus aureus and the detection of vegetation attached to the right ventricular wall near the ostium of the ventricular septal defect confirmed diagnosis of infective endocarditis. After four weeks' treatment with proper antibiotics the patient recovered.     

室间隔缺损胎儿心室肌组织微小RNAs时序性表达差异研究

目的采用微小RNAs（miRNAs）表达谱芯片分析不同孕龄（孕早期与孕中期）室间隔缺损（VSD）胎儿心室肌组织中时序性表达差异的miRNAs。方法连续性纳入2009年7～12月南京医科大学附属南京妇幼保健院因病理因素流产经解剖证实为VSD且不合并其他畸形的胎儿为VSD组。以同期因生理性难免流产,并经解剖证实无心脏畸形和其他器官畸形的胎儿为对照组,依据孕龄与VSD组1：1匹配。根据孕龄,将VSD组和对照组分别分为孕早期亚组和孕中期亚组。采用Agilent Human2.0 miRNAs表达谱芯片观察胎儿心室肌组织miRNAs表达变化,芯片数据采用生物信息学方法进行分析,包括差异miRNAs筛选,预测miRNAs靶基因Gene Ontology分析,靶基因信号通路分析,并采用实时PCR法验证芯片结果。结果 VSD组和对照组各纳入6例,两组孕早期亚组和孕中期亚组均各3例。①通过差异miRNAs筛选,发现孕早期VSD亚组与孕中期VSD亚组间有33个时序性表达差异的miRNAs。19个miRNAs在孕早期VSD亚组表达上调,在孕中期VSD亚组表达下调;14个miRNAs在孕早期VSD亚组表达下调,在孕中期VSD亚组表达上调。②生物信息学预测到2761个靶基因,大部分miRNAs的靶基因中含有与心脏发育直接相关的关键基因（TBX5、GATA4、TBX1和NKX2-5等）。③靶基因GeneOntology分析表明其中与细胞进程、代谢过程和生物调控相关的靶基因分别占整个靶基因数量的23.5%、18.3%和17.7%。④靶基因信号通路分析发现,WNT信号通路中的靶基因在孕早期VSD亚组与孕中期VSD亚组中存在时序性差异。⑤随机挑选孕早期VSD亚组与孕中期VSD亚组时序性表达差异的4个miRNAs（hsa-miR-19a、hsa-let-7e、hsa-miR-134和hsa-miR-206）进行验证,定量PCR结果显示,孕早期VSD亚组分别上调3.2（hsa-miR-19a）和4.1倍（hsa-let-7e）,下调5.3（hsa-miR-134）和4.4倍（hsa-miR-206）;孕中期VSD亚组分别下调4.8（hsa-miR-19a）和3.4倍（hsa-let-7e）,上调4.5（hsa-miR-134）和3.9倍（hsa-miR-206）。结论时序性表达差异的miRNAs在胎儿VSD畸形的发生中可能起着重要作用,但本研究样本量较小,需要进一步扩大样本量进行验证。这些差异表达miRNAs的预测靶基因与细胞发育、分化和代谢密切相关,含有与心脏发育直接相关的关键基因,部分靶基因为WNT信号通路中的关键因子,提示VSD的发生发展是机体在miRNAs的参与下,在多个层面上使基因表达失控的共同结果。     

先天性室间隔缺损中的一个GATA4基因新突变

目的 研究GATA4基因新突变导致先天性室间隔缺损(ventricular septal defect,VSD)的分子机制.方法 收集185例先天性VSD患者的临床资料和血标本,以200名健康者为对照.应用PCR扩增GATA4基因的全部外显子,采用双脱氧核苷链末端合成终止法对全部扩增片段进行测序以识别基因突变.克隆GATA4基因,通过定位诱变获得相应的突变体,应用脂质体将GATA4基因重组表达质粒及心房利钠肽基因启动子启动绿色荧光蛋白表达的报告载体转染HeLa细胞,应用逆转录-PCR研究GATA4基因突变对其编码的转录因子的活性的影响.结果 在1例VSD患者的GATA4基因发现1个新的杂合错义突变c.191G＞A,即第64位的密码子由GGA变为GAA,导致第64位的甘氨酸变为谷氨酸,即G64E突变.细胞表达分析显示GATA4突变G64E使转录因子的活性降低.结论 在先天性VSD患者发现GATA4新突变G64E,该突变可能通过抑制转录因子的活性而参与先天性VSD.     

Factors influencing the spontaneous closure of ventricular septal defect in infants

This study is to prospectively evaluate the potential value of maternal and infantile variables as predictors for the spontaneous ventricular septal defects (VSD) closure in infants. Methods: Consecutive infants less than six-month-old when diagnosed with VSD, were followed-up for at least 5 years. Demographic, clinical and maternal factors were evaluated for the possible associations of the incidence of spontaneous VSD closure Of the 425 eligible infants, 93 had spontaneous VSD closure, 78.50% of which occurred when the patients were under 3 years of age. Diameter of the defect (D_VSD), ratio between diameter of the defect and aortic root diameter (D_VSD/D_AR), left atrium sizes, left ventricle sizes, main pulmonary forward blood flow, infection scores, shunt ratio (Qp/Qs), VSD locations, and comorbidities including patent ductus arteriosus (PDA), and membranous septal aneurysm were independent predictors of spontaneous closure. However, maternal factors during the first 3 months of pregnancy and VSD infants with Down syndrome did not affect the spontaneous closure of infants with VSD. Conclusion: D_VSD, D_VSD/D_AR, left atrium sizes, left ventricle sizes, main pulmonary forward blood flow, infection scores, Qp/Qs, VSD location, comorbidities including PDA, or membranous septal aneurysm may be used as potential independent predictors of spontaneous VSD closure in infants.     

Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: an autosomal recessive disorder?

We report on two sisters with secundum atrial septal defect, perimembranous ventricular septal defect, and coarctation of the aorta. Identical anatomical malformations were verified by echocardiography and at operation. No other affected relatives were identified. We suggest that this is a specific, possibly recessively inherited type of complex cardiac malformation.     

Aortopulmonary septal defect

Summary The heart of a 42 year old man with a total defect of the aorto-pulmonary septum is described. Such cases should not be called partial truncus arteriosus persistens, since they have a normal bulbus whereas in cases of t.a.p. it is defective.