矫正型大动脉转位合并心内畸形的外科治疗

目的:为探讨矫正型大动脉转位的病理解剖特点及手术技术.方法:本组6例均为SLL型,手术包括:室间隔缺损修补4例、肺动脉瓣切开1例、静脉室肺动脉外通道1例、左房室瓣替换1例.结果:全组手术死亡1例.主要手术并发症为低心排4例、完全性房室传导阻滞1例及残余左房室瓣关闭不全1例.结论:矫正型大动脉转位的病理解剖有一定的特殊性,应按不同的合并畸型选择不同术式,正确处理室间隔缺损、肺动脉流出道狭窄及左房室瓣关闭不全是外科手术的关键.     

室间隔缺损的解剖分型及其临床意义

目的：探讨室间隔缺损解剖分型的临床意义。方法：按照Ｓｏｔｏ的分类方法略加改进，将３５０例室间隔缺损分为４个解剖类型，并与其临床表现相对照。结果：３５０例室间隔缺损中，７６％（２６６例）为膜周型，缺损均与室间隔膜部关连；１９．４％（６８例）为干下型，位于肺动脉与主动脉相遇的左右瓣环下；０．９％（３例）为肌型，可见于肌部间隔的任何一处；３．７％（１３例）为混合型，包括单个大型缺损涉及室间隔多个部位或同时出现两种以上的单个室间隔缺损。描述了各型室间隔缺损的主要临床征象。外科医生可据此选择合适的手术切口及手术方法。结论：室间缺损的解剖分型对其临床诊断及治疗有较高的价值     

先天性房间隔、室间隔缺损的经胸微创封堵治疗

目的评估在食道心脏超声引导下经胸微创封堵先天性房、室间隔缺损的疗效及安全性。方法回顾性分析2013年9月至2015年6月贵阳中医学院第二附属医院收治的44例经胸微创封堵心脏房、室间隔缺损患者的临床资料。所有患者术中经食管超声心动图监测并引导封堵伞的放置,评价手术效果,术后门诊定期随访患者心电图、超声心动图。结果 44例患者中43例先天性间隔缺损(室缺28例,房缺16例,其中1例为室缺合并房缺患者)封堵成功,1例室缺患者中转为心内直视手术。手术时间22~48 min,手术切口2~4.5 cm,术后呼吸机辅助时间1~5 h,术后引流量小于50 mL,术后住院时间2~6 d。所有患者均治愈出院。出院病例随访1~12个月,封堵器位置良好,无残余分流,无封堵术导致的瓣膜返流及心律紊乱。结论在食道心脏超声引导下经胸封堵手术治疗先天性房、室间隔缺损具有微创、简便、安全、恢复快等优点,近期随访疗效满意。     

产前超声诊断胎儿室间隔缺损的价值评估

目的对产前超声检出的胎儿室间隔缺损和漏诊的新生儿室缺病例做回顾性分析,总结检查手法和经验,分析漏诊原因,探讨产前超声诊断胎儿室间隔缺损的价值和不足。方法选取2014年1月至2016年6月间,在我院接受产前超声检查的63份病例,包括46例产前超声发现胎儿合并室间隔缺损的孕妇和产前超声正常而产后发现室间隔缺损的新生儿17例。随访妊娠结果和出生后超声心动图,回顾性对照分析产前超声留图和诊断,总结诊断经验,评价产前心脏超声检查诊断胎儿室间隔缺损的优势和不足。结果产前超声发现的46例胎儿室间隔缺损病例中,单纯室间隔缺损11例(23.91%),其他先天性心脏畸形合并室间隔缺损35例(76.09?%);产后首次发现新生儿室缺的17个病例中,膜周部室缺10例(58.82%),缺损大小平均值4.15mm;肌部室缺7例(41.18%),缺损大小平均值1.97mm。结论产前超声是诊断胎儿室间隔缺损的有效检查方法,单纯性室缺、膜周室缺和小的肌部室缺最易漏诊。多切面连续性扫查、调节机器增益、血流速度标尺是减少漏诊的关键。     

103例完全性大动脉转位的冠状动脉解剖类型分析

目的:总结103例大动脉转位手术病例及自然死亡病例,就TGA的冠状动脉解剖类型、变异冠状动脉发生率与合并心内畸型的关系等作一分析。方法:103例病例分成两组:A组,室间隔完整(TGA IVS)共54例,B组,伴有室间隔缺损(TGA VSD)共48例。其中86例作了大动脉转换解剖纠治术,术中直视下观察冠状动脉走向,其余17例为未及手术的自然死亡病例,均作尸体解剖。结果:103例中共发现了7种不同的冠状动脉解剖类型,变异冠状动脉的发生率为21.3%(A组为16.7%,B组为26.5%);各种变异冠状动脉中以右冠状窦双支冠状动脉(6.8%)和右冠状窦单支冠状动脉(5.8%)最为多见。结论:本组103例TGA中变异冠状动脉的发生率21.3%,TGA/VSD变异冠状动脉的发生率高于TGA/IVS者。     

室间隔缺损体外循环下的外科治疗

目的：总结先天性室间隔缺损（Ventricular septal defect,VSD）体外循环（Cardiopuhnonary Bypass,CPB）下外科手术治疗经验。方法：1996年5月至2007年5月手术治疗VSD675例,均在低温体外循环下（CPB）手术。直接缝合392例,补片修补283例。结果：术后死亡6例,并发症发生率6．7％。结论：手术治疗VSD效果满意,正确诊断、适应症的掌握、手术技术改进、室缺肺高压围术期的处理是影响预后的重要因素。     

腹腔干及其多分支变异1例

目的　探讨岩上静脉（SPV）和岩上窦（SPS）的解剖变异及其在岩斜脑膜瘤手术中的处理策略和教训。 方法　回顾性分析岩斜脑膜瘤手术治疗病例19例,按照岩斜脑膜瘤的分型采用不同入路方式进行手术,观察SPV和SPS的解剖变异并进行分型,处理手术并发症。 结果　脑膜瘤手术全切除（Simpson Ⅰ/Ⅱ级）63.2%（12例）,近全切除（Simpson Ⅲ级）36.8%（7例）。术中见SPV和SPS解剖分型Ⅰ型有63.2%（12例）,Ⅱ型21.1%（4例）,Ⅲ型15.8%（3例）。采用经岩前中颅窝底入路10例,10例离断SPS,2例损伤SPV;采用幕上下经岩骨乙状窦前入路4例,3例离断SPS,1例损伤SPV;采用枕下乙状窦后入路5例,1例损伤SPV。所有病例中,手术离断SPS 68.4%（13例）,损伤SPV 21.1%（4例）;其中引起严重并发症15.8%（3例）。 结论　岩斜脑膜瘤手术前通过影像或全脑血管造影（DSA）检查了解SPV和SPS的解剖分型,有助于手术入路的选择,避免术中不必要的损伤,减少术后并发症的发生。     

岩上静脉和岩上窦的解剖变异及其在岩斜脑膜瘤手术中的处理策略和教训

目的　探讨岩上静脉（SPV）和岩上窦（SPS）的解剖变异及其在岩斜脑膜瘤手术中的处理策略和教训。 方法　回顾性分析岩斜脑膜瘤手术治疗病例19例,按照岩斜脑膜瘤的分型采用不同入路方式进行手术,观察SPV和SPS的解剖变异并进行分型,处理手术并发症。 结果　脑膜瘤手术全切除（Simpson Ⅰ/Ⅱ级）63.2%（12例）,近全切除（Simpson Ⅲ级）36.8%（7例）。术中见SPV和SPS解剖分型Ⅰ型有63.2%（12例）,Ⅱ型21.1%（4例）,Ⅲ型15.8%（3例）。采用经岩前中颅窝底入路10例,10例离断SPS,2例损伤SPV;采用幕上下经岩骨乙状窦前入路4例,3例离断SPS,1例损伤SPV;采用枕下乙状窦后入路5例,1例损伤SPV。所有病例中,手术离断SPS 68.4%（13例）,损伤SPV 21.1%（4例）;其中引起严重并发症15.8%（3例）。 结论　岩斜脑膜瘤手术前通过影像或全脑血管造影（DSA）检查了解SPV和SPS的解剖分型,有助于手术入路的选择,避免术中不必要的损伤,减少术后并发症的发生。     

食道心脏B超观察下闭式房间隔缺损缝合术

本文介绍食道心脏Ｂ超监测非体外循环下闭式房间隔缺损埋藏内褥式缝合术的经验。方法是经胸骨正中切口，食道心脏Ｂ 超监测非体外循环下行闭式房缺埋藏内褥式缝合术１０例。本组病例均属中央型继发孔房缺，直径１．５￣３．５ｃｍ。结果显示本组病例无手术死亡及并发症，均达治愈效果。本文认为将食道心脏Ｂ超应用于该手术，提高了准确性，减少了盲目性；中央型继发孔房缺，直径〈３．５ｃｍ的病人最为适合此修补方法。     

室间隔缺损患者修补术围手术期护理研究

目的：探讨室间隔缺损患者修补术的护理方法和要点。方法以我科行室间隔缺损修补术的患者22例为例,研究的护理方法和要点。结果通过采用规范的术前护理、术后护理以及并发症的预防及护理,所有22例病患均得于康复出院,均未发生不良并发症。结论做好室间隔缺损患者的围手术期护理可有效控制并发症及死亡率的发生。室间隔缺损修补术的护理对至关重要。     

Preoperative transcatheter closure of congenital muscular ventricular septal defects

BACKGROUND. Surgical repair of muscular ventricular septal defects, particularly those associated with complex heart lesions carries a higher risk of reoperation and death than the repair of membranous defects. Closing a muscular defect through an incision in the systemic ventricle may cause late ventricular dysfunction. In a collaborative approach to this problem, we undertook preoperative transcatheter closure of muscular ventricular septal defects remote from the atrioventricular and semilunar valves, followed by the surgical repair of associated conditions. METHODS. In 12 patients selected jointly by a cardiologist and a cardiac surgeon, we attempted preoperative transcatheter umbrella closure of 21 defects. Half the patients had associated complex heart lesions; the others had had pulmonary-artery banding to reduce the amount of left-to-right shunting. Half had severe ventricular septal deficiency. RESULTS. All 21 defects were successfully closed without major complications. Subsequent cardiac surgery for associated conditions in 11 of the 12 patients resulted in a mean pulmonary-to-systemic flow ratio of 1.1, indicating minimal residual left-to-right shunting; 1 patient awaited surgical repair. No deaths, reoperations, or late complications have occurred after a follow-up of 7 to 20 months. CONCLUSIONS. A collaborative approach using transcatheter closure followed by the surgical repair of associated cardiac lesions may decrease rates of operative mortality, reoperation, and left ventricular dysfunction in patients with muscular ventricular septal defects.     

Familial risks of congenital heart defect assessed in a population-based epidemiologic study

Congenital heart defects (CHD) represent a heterogeneous group of disorders caused by chromosome abnormalities, mendelian disorders, teratogenic exposures, and unknown etiologic mechanisms. A large group of various isolated defects is presumably multifactorial in origin. Previous studies of familial risks for specific anatomic defects obtained from clinical series may include significant biases and obscured pathogenic relationships. In this population-based study we analyzed all cases of CHD in infants and a control birth cohort in the Baltimore-Washington area. The rates of CHD were defined for first-degree relatives of cases with isolated defects, grouped by a pathogenic classification scheme. Precurrence risks were found to vary among the groups, and risks for flow lesions were higher than previously reported. The sibling precurrence risk for hypoplastic left heart syndrome (13.5%) was not significantly different from that expected for an autosomal recessive mechanism; the risks for different types of ventricular septal defects (VSD) varied among mechanistic groups. The results indicate that the additive multifactorial model does not adequately account for the risks in all forms of isolated CHD of unknown etiology.     

牛心包补片修复心脏间隔缺损的应用

背景：心脏涤纶补片因其质地薄、质量轻、生物相容性好等优点常规用于心脏手术,但最近几年发现,用心脏涤纶补片对心室间隔缺损修补后,一旦发生术后残余漏,较易引起溶血、细菌或真菌感染。 目的：探讨应用牛心包补片修复心脏间隔缺损的疗效。 方法：采用戊二醛固定的牛心包补片修补152例心脏间隔缺损患者,其中房间隔缺损56例,室间隔缺损78例,部分房室间隔缺损18例。术后复查心电图、胸片、心脏超声,观察其术后早期病情、血流动力学和心脏功能。 结果与结论：152例患者均完成修补手术,术后无早期死亡,患者随访2-6个月,牛心包补片在使用过程中及术后早期均未发现漏血、溶血、血栓、感染、排斥反应等并发症。1例患者因合并肺动脉高压,术后第1天出现高血压危象,经过抢救后好转。复查心电图、胸片、心脏超声可见心脏间隔缺损修补完全,无残余分流;肺动脉压力明显下降;活瓣已关闭无分流;心脏功能正常。证实牛心包补片可以有效修复心脏间隔缺损,改善患者的血流动力学和心功能,近期效果满意,是一种良好的心脏间隔缺损修补材料。     

26例胎儿先天性心脏畸形的产前诊断及临床分析

目的了解胎儿先天性心脏畸形的类型,分析胎儿先天性心脏畸形合并心外畸形及染色体异常的发生率。方法回顾性分析产前超声发现胎儿先天性心脏畸形,且经过产前染色体检查及产后病理解剖证实的26例病例。结果发现10种类型的胎儿先天性心脏畸形,其中室间隔缺损的发生率最高,达57.2%,有4例单纯一种心脏畸形（15.4%）,11例多发心脏畸形（42.3%）,15例合并心外畸形（52.7%）,12例合并染色体异常（46.2%）。结论胎儿期发现的先天性心脏畸形的类型一般较为严重,发生多种心脏畸形的机率较高,合并心外畸形和染色体异常的发生率也较高。     

Holt-Oram syndrome: a clinical genetic study.

A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal defects affected the upper limbs exclusively and were bilateral and asymmetrical. They ranged from minor signs such as clinodactyly, limited supination, and sloping shoulders to severe reduction deformities of the upper arm (4.5%). The radial ray was predominantly affected than the right. All affected cases showed evidence of upper limb involvement. Cardiac defects were seen in 95% of familial cases and included both atrial septal defect (ASD, 34%) and ventricular septal defect (VSD, 25%); 39% had only ECG changes. Cardiac involvement ranged from asymptomatic conduction disturbances to multiple structural defects requiring surgery in infancy. Sudden death could be caused by heart block. Inheritance was autosomal dominant with 100% penetrance and no evidence of reduced fitness. Increasing severity occurred in succeeding generations consistent with anticipation.     

Descriptive anatomy of the dominant septal perforators using Dual Source coronary CT angiography

Although clinical outcomes for septal ablation in treating left ventricular outflow tract obstructions are generally favorable, a variety of complications have been reported including a high incidence of right bundle branch block. These complications may be attributed to anatomic variability of the dominant septal perforator. We used Dual Source CT Coronary Angiography (DS‐CTA) to determine the location of the termination point of the dominant septal perforator as well as the distance of the termination point from the mitral annulus in patients undergoing DS‐CTA. One‐hundred‐fourteen DS‐CTA scans were retrospectively reviewed by two observers by consensus. The left ventricle was divided into anterior wall, anterioseptum, and inferioseptum. For each segment, the myocardium was divided into three layers (1) right ventricular side, (2) mid portion, and (3) left ventricular side. The zone of termination of the dominant septal perforator was identified as well as the distance of the termination point from the mitral annulus. The dominant septal perforator terminated in the right ventricular side of the anterioseptum in 86 of the 118 visualized terminations (73%) and in the left ventricular anterior wall in 6 visualized terminations (5%). On average, the dominant septal perforator terminated 26.3 ± 8.6 mm from the mitral annulus. In the majority of cases, the dominant septal perforator terminates in the right ventricular side of anterioseptum. In addition, there is great variability in the distribution of the termination point of the dominant septal perforator from the mitral annulus. Clin. Anat. 23:70–78, 2010. © 2009 Wiley‐Liss, Inc.     

Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986-1999

Chromosomal abnormalities are more common in the presence of structural birth defects. However, much of the literature have only provided chromosomal abnormality rates for one or a few structural birth defects at a time. This study calculated the chromosomal abnormality rates for a number of structural birth defects using data from the Hawaii Birth Defects Program (HBDP) for deliveries during 1986-1999 and evaluated the impact of exclusion of cases with chromosomal abnormalities when calculating birth prevalence. The chromosomal abnormality rates were highest for endocardial cushion defect (40%) and omphalocele (27%), while no chromosomal abnormalities were reported for pyloric stenosis, persistent cloaca, and deficiency of lower limbs. The majority of chromosomal abnormality rates fell within a certain range, with 32 (63%) of the birth defect categories having chromosomal abnormality rates of 5-15%. The chromosomal abnormality rates also tended to be higher for multiple than for isolated cases. For three of the structural birth defects (ventricular septal defect, atrial septal defect, endocardial cushion defect), the birth prevalence of the defect, when cases with a chromosomal abnormality were excluded, was significantly lower than the birth prevalence that included those cases. Chromosomal abnormality rates varied by type of structural birth defect and presence of other major structural birth defects. For at least several structural birth defects, exclusion of cases with chromosomal abnormalities significantly underestimated the birth prevalence. This underestimation may be important, depending on the purpose of the analysis.     

Intracoronary transplantation of genetically modified mesenchymal stem cells, a novel method to close muscular ventricular septal defects

Muscular ventricular septal defects remain a challenge despite the progress in surgical and interventional closure of ventricular septal defects. Our hypothesis was inspired by the fact that more than two thirds of children with muscular ventricular septal defects experienced spontaneous closure. Therefore, we intend to induce the spontaneous closure of muscular ventricular septal defects by means of targeted intracoronary injection of mesenchymal stem cells which are genetically modified to enhance myocardial hypertrophy. The transplantation of bone marrow derived cells has been observed to be effective in improving tissue recovery and ameliorating cardiac function in patients and animal models with ischemic heart disease, acute myocarditis and dilated cardiomyopathy. We expect that the targeted intracoronary transplantation of genetically modified mesenchymal stem cells could enhance the tissue generation and myocardial hypertrophy simultaneously, which may lead to the closure of muscular ventricular septal defects in a way that imitate the spontaneous closure of ventricular septal defects.     

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

The oculo-auriculo-vertebral spectrum (OAVS) is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5-58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with OAVS examined between January 1990 and February 2007 with normal chromosomes, ranging in age between 0.1 and 16.8 years. A twin pregnancy occurred in eight cases (dizygotic in six cases and monozygotic in two). CHDs were diagnosed in 28/87 (32%) patients, and classified into categories of postulated developmental mechanisms including 9 (32%) atrial and ventricular septal defects, 11 (39%) conotruncal defects, 4 (14%) targeted growth defects, two (7%) with situs and looping defects, one (4%) with a left-sided obstructive lesion and one (4%) with patent ductus arteriosus. As noted in other series, the most common individual CHDs were ventricular septal defect (six patients) and tetralogy of Fallot (TOF) (classic or with pulmonary atresia) (six patients). Comparing the frequencies of CHDs groups observed in the OAVS patients with the findings of the Emilia-Romagna Registry which ascertained CHDs prevalence in the general population, conotruncal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS.     

胎儿染色体非整倍体与产前超声特征的对比分析

目的探讨胎儿非整倍体的产前超声特征。方法收集99例曾在孕11周-13^＋6周及孕18周-24周间进行产前超声检查的胎儿非整倍体的核型和超声资料,分析非整倍体超声指标异常的数目和类型。结果99例包括21三体53例,18三体23例,13三体5例,性染色体非整倍体（SCA）16例和其他非整倍体2例。83。8％出现超声指标异常,50．5％出现多项指标异常,33．3％出现单项指标异常,16．2％未出现指标异常,包括21三体7例和SCA8例;21三体常见指标异常有颈项透明层（NT）增厚、鼻骨缺失、室缺、三尖瓣反流;18三体常见指标异常有NT增厚、室缺、双手姿势异常;l3三体最常见畸形为全前脑;SCA常见指标异常有颈部水囊瘤、NT增厚。结论单项超声指标异常也不排除胎儿非整倍体,部分21三体及SCA产前超声指标未见异常,各非整倍体的异常超声指标分布及特征性超声指标有所不同。