基质金属蛋白酶-2与-9在先天性二叶型主动脉瓣中的表达及意义

目的检测基质金属蛋白酶(MMPs)MMP-2、MMP-9在先天性二叶型主动脉瓣中的表达,探讨MMP-2、MMP-9在先天性二叶型主动脉瓣病变中的作用。方法选取因先天性二叶型主动脉瓣伴主动脉瓣狭窄(AS)和(或)主动脉瓣关闭不全(AI)行主动脉瓣置换术切取的儿童二叶型主动脉瓣瓣膜为研究组(n=12,男11例,女1例,年龄10～18岁,平均16.7岁,单纯AS3例、单纯AI8例、AS-AI1例),病例来源为2003-01—2005-12华中科技大学同济医学院同济医院住院患儿;以同期性别、年龄相近,无心血管系统及胶原系统疾病、意外死亡患儿的正常三叶型主动脉瓣(n=8,男6例,女2例,年龄在1～17岁之间,平均年龄9.1岁)为对照组,采用HE染色和免疫组织化学方法,观察先天性二叶型主动脉瓣组织学变化,对MMP-2、MMP-9蛋白质表达行半定量分析。结果正常主动脉瓣可见MMP-2、MMP-9低水平表达,MMPs在先天性二叶型主动脉瓣组、对照组表达的平均灰度值:MMP-2分别为(68.31±6.91)、(107.31±23.39),(P<0.05);MMP-9分别为(64.47±3.98)、(116.28±6.99),(P<0.05);先天性二叶型主动脉瓣组MMP-2、MMP-9表达较正常对照组显著性增强。结论先天性二叶型主动脉瓣中MMP-2、MMP-9表达水平增高,MMP-2、MMP-9可能参与先天性二叶型主动脉瓣细胞外基质(ECM)降解、重构,导致主动脉瓣结构和功能障碍,在先天性二叶型主动脉瓣病变的发生发展中起重要作用。     

风湿性心脏病患儿主动脉瓣病变组织基质金属蛋白酶-2、-9表达的意义

目的检测基质金属蛋白酶(MMPs)在风湿性心脏病(RHD)主动脉瓣关闭不全的主动脉瓣组织中水平,探讨MMPs在风湿性心瓣膜病儿童发病中的作用。方法实验组即RHD组为RHD患儿的主动脉瓣18例,对照组为同期意外死亡的同年龄儿童,无心血管系统疾病正常主动脉瓣8例。经HE染色观察两组组织学变化,经免疫组织化学染色(SABC法)检测两组主动脉瓣组织MMP2、MMP9表达情况。表达结果以平均灰度值表示。结果HE染色显示RHD组瓣膜结构不清,纤维组织增生,胶原纤维玻璃样变性、钙化等改变。免疫组织化学结果显示RHD组主动脉瓣表达均明显高于正常对照组,MMP2平均灰度值RHD组68.85±13.08;对照组为107.31±23.39;两组比较t=3.92 P<0.05;MMP9平均灰度值RHD组为64.35±9.59;对照组为116.28±6.99,两组比较t=10.18 P<0.05。结论MMP2、MMP9表达增强,可能参与RHD的主动脉瓣膜的重建,在风湿性心瓣膜病病理过程中起重要作用。     

微纤维蛋白-1和Ⅰ型胶原在儿童风湿性主动脉瓣病变中的表达及意义

目的检测微纤维蛋白-1(Fibrillin-1)、Ⅰ型胶原在正常主动脉瓣膜组织和风湿性心脏病(RHD)的主动脉瓣组织中的含量,探讨Fibrillin-1和Ⅰ型胶原在儿童风湿性心瓣膜病发病中的作用。方法实验组标本是18例RHD患儿的主动脉瓣膜,均由华中科技大学同济医学院同济医院提供,对照组标本为8例意外死亡、无心血管系统疾病患儿的正常主动脉瓣膜,收集标本时间为2003-01—2005-12。标本经HE染色,观察两组之间的组织学变化,经免疫组织化学SABC法检测两组主动脉瓣Fibrillin-1、Ⅰ型胶原的表达情况。结果HE染色显示实验组瓣膜结构不清,纤维组织增生,胶原纤维玻璃样变性、钙化等改变。实验组主动脉瓣的Fibrillin-1表达均明显高于正常对照组(P<0.05),Ⅰ型胶原在实验组的含量也明显高于对照组(P<0.05)。结论RHD时主动脉瓣Fibrillin-1、Ⅰ型胶原表达增加,细胞外基质重构,在RHD的发病过程中起重要作用。     

自体心包修复儿童主动脉瓣狭窄9例病例系列报告

目的：总结并分析以自体心包修复儿童先天性主动脉瓣狭窄的手术方法和早期预后。方法：纳入2013年7月至2015年6月在复旦大学附属儿科医院行自体心包主动脉瓣成形术的先天性主动脉瓣狭窄患儿,收集患儿的一般资料,围手术期情况,并发症,术前、术中、术后和随访时的超声心动图资料。结果：符合本文纳入标准的9例患儿进入本文分析,男6例,女3例,年龄4月龄至9岁。术前超声提示,三叶式和二叶式主动脉瓣分别为3例和6例;重度狭窄6例,中度狭窄1例,重度狭窄伴中度返流2例。9例均以自体心包再造或扩大主动脉瓣瓣叶。术后即刻与术前超声心动图比较：主动脉瓣最大跨瓣压差［（31.6±9.4）mm Hg vs（73.0±22.2）mm Hg, P=0.000］和主动脉瓣平均跨瓣压差［（15.8±18.3）mmHg vs （35.8±18.3）mmHg, P= 0.004］均下降。术后随访24～48（32±8）月,无死亡和再干预病例,未见严重不良事件,未见主动脉瓣重度狭窄或重度反流、升主动脉狭窄或扩张、主动脉瓣瓣环狭窄与扩张、瓣膜脱垂或瓣膜赘生物病例;3例患儿分别在随访18、24和12个月时出现瓣叶活动僵硬,瓣叶开放不完全。术后左室后壁厚径均呈下降趋势;末次随访时,8例患儿左室后壁厚径Z值（Z-LVPWd）均下降至正常水平（＜2）。结论：以自体心包修复主动脉瓣可改善先天性主动脉瓣狭窄患儿的血流动力学,手术风险低,术后早期疗效可,避免或延缓儿童主动脉瓣置换术,减少施行ROSS手术机会。     

儿童硬皮病15例临床分析

目的 探讨儿童硬皮病的临床及病理特点。方法 系统性回顾分析我院1997年1月－2001年12月儿童风湿病门诊和病房的硬皮病患儿临床资料并随访。结果 15例儿童硬皮病中秕生12例（80％），限局性3例（20％），均为斑片状损害；肢体活动障碍者12例（80％），系统性硬皮病内脏系统受累多元无相应的临床症状；雷诺现象少；病理组织改变主要是胶原纤维增生，淋巴细胞浸润，血管病变不突出。结论 本病致残经高，严重影响患儿生命质量及成人后的劳动能力，应引起重视。     

神经母细胞瘤术前化疗的病理观察

报告神经母细胞瘤术前化疗病例的临床病理观察，与术前未化疗病例比较，提示化疗使肿瘤细胞固缩、坏死、变性，肿瘤间质纤维组织增生，淋巴细胞浸润，包膜增厚，从而使肿瘤完全切除率从１４．３％提高到７０．０％，术后生存率和生存时间也显著提高和延长，病理改变与治疗效果呈正相关。从病理组织学的角度证实了术前化疗延期手术治疗神经母细胞瘤的可行性和临床价值。     

应用ROSS手术治疗儿童主动脉瓣病变的研究

目的评价应用Ross手术治疗儿童主动脉瓣病变的效果。方法回顾性分析1994年1月-2005年1月Ross手术治疗儿童主动脉瓣病变26例，其中男18例，女8例，平均年龄（12．4±5．3）岁。主动脉瓣赘生物7例，主动脉瓣二瓣叶畸形9例，主动脉瓣叶脱垂6例，瓣叶发育不良3例，主动脉瓣成形术后再发主动脉瓣关闭不全1例。所有患儿均采用自体带瓣肺动脉行主动脉根部替换，均应用同种肺动脉带瓣管道重建右室流出道。结果本组26例无手术死亡，1例术后大出血而2次开胸止血。在2例12年、24例（24．5±3．8）个月的随访期间，1例术后1年同种肺动脉瓣感染致感染性心内膜炎再次手术时死亡。25例血流动力学优良，23例无主动脉瓣反流，2例仅存在轻微主动脉瓣反流；4例有同种异体肺动脉瓣轻度反流，1年后左室舒张末径从术前的（65。24±12．7）mm显著缩小到（49±8．23）mm（P〈0．05）。结论应用Ross手术治疗儿童主动脉瓣病变可取得较好的围术期及近中期效果。     

尿道下裂阴茎下弯畸形组织病理学表现及临床意义

目的 研究尿道下裂阴茎下弯畸形阴茎海绵体腹侧表面组织病理学特点及其临床意义。方法 以尿道下裂伴阴茎下弯23例为研究对象，3例隐匿性阴茎和3例躯体瘢痕病例作为对照，通过解剖学观察，以及采用HE染色、苦味酸-天狼猩红染色，在光学和偏振光显微镜下检测纤维组织增生改变，对平滑肌肌动蛋白（α-SMA）、转化生长因子β1（TGFβ1）和成纤维细胞生长因子（bFGF）进行免疫组织化学染色并分别观测其表达情况，进一步说明阴茎下弯畸形阴茎海绵体腹侧表面组织的组织病理学特点。结果①解剖学观察：尿道下裂类型与阴茎下弯程度相关，尿道口位置越近端，阴茎下弯越明显；阴茎下弯程度越重，阴茎海绵体腹侧表面纤维索带样组织越明显；②组织形态学观察：在光学显微镜和偏振光显微镜下观察各组病例阴茎海绵体腹侧表面组织构成，显示尿道下裂病例存在不同程度的、排列相对整齐的纤维组织；而瘢痕病例的纤维组织排列较紊乱且纤维变性较多；隐匿性阴茎病例则主要由疏松结缔组织组成，胶原纤维和成纤维细胞增生少见。与隐匿性阴茎病例对照比较，尿道下裂和瘢痕病例的Ⅰ/Ⅲ型胶原比例明显升高（P〈0．05）；与尿道下裂阴茎下弯程度无相关性（P〉0．05）；③免疫组织化学检测结果显示：尿道下裂的阴茎海绵体腹侧表面组织和瘢痕病例组织的mSMA、TGFp，及bFGF表达强度均较隐匿性阴茎病例明显升高（P〈0．05）；与尿道下裂阴茎下弯程度无相关性（P〉0．05）。结论尿道下裂伴发阴茎下弯者，其阴茎海绵体腹侧表面组织的病理学基础为纤维索带，推测为先天性尿道下裂阴茎下弯畸形的发生原因。因此，在尿道下裂矫正手术中，有必要松解切除阴茎海绵体腹侧表面纤维索带，以达到矫正阴茎下弯的目的，阴茎背侧白膜短缩手术可作为一种辅助矫正措施。     

胆总管囊肿手术前后肝脏血液动力学变化

目的 探讨胆总管囊肿肝脏血液动力学变化的意义。方法 彩色多普勒血流显像（ＣＤＦＩ）监测２２例胆总管囊肿患儿手术前后肝脏血液动力学变化,并取肝活检观察组织学及血管形态学改变。结果 肝病变主要在汇管区,炎性细胞浸润、小胆管及纤维组织增生,门脉分支受压而小动脉数目增多,据此将肝病变分为Ｉ、Ⅱ和Ⅲ型;门脉截面积手术前后无明显变化（Ｐ〉０．０５）,肝动脉术前较术后扩张（Ｐ〈０．０１）。ＣＤＦＩ监测门脉流速血     

多层螺旋CT血管造影诊断主动脉弓离断1例

主动脉弓离断（interrupted aortic arch，IAA）是一种少见的先天性心血管畸形，常并发多系统的畸形，在新生儿中发生率约为1／10000，在先天性心脏病患儿中约占1％。我们应用多层螺旋CT（multi—slice computed tomography，MSCT）血管造影诊断IAA 1例，并经手术证实，现报道如下。     

Tetralogy of Fallot with Congenital Aortic Valvar Stenosis: The Tetralogy–Truncus Interrelationship

Two rare patients are reported with tetralogy of Fallot and congenital aortic valvar stenosis. The anatomic and developmental interrelationship between tetralogy of Fallot and truncus arteriosus is summarized. A study of 100 randomly selected postmortem cases of tetralogy revealed aortic valve pathology in 8%, myxomatous aortic valve leaflets without stenosis in 4%, bicuspid aortic valves without stenosis in 3%, and congenital aortic valvar stenosis in 1%. The frequency of systemic semilunar valve pathology in truncus was much higher (66%): moderate to marked myxomatous change in 44%, mild myxomatous change in 22%, truncal valvar stenosis in 11%, and truncal valvar regurgitation in 15%. Being aware of the tetralogy–truncus interrelationship and knowing that myxomatous aortic valves are prone to premature calcific aortic stenosis and/or regurgitation, physicians should follow the aortic valves of surgically repaired patients with tetralogy of Fallot and truncus arteriosus long term with great care. Timely aortic valvuloplasty or replacement may well prove life-saving in such patients.     

Multiple floppy valves with all cardiac valves prolapsing: Clinical course and treatment

Summary Two cases with prolapse of all four cardiac valves are described and compared with two similar ones previously reported. The severity and progression of regurgitation of each of the valves differed by case, despite having similar echocardiographic findings consistent with the diagnosis of multiple floppy valves. Two of the four patients had their aortic valve replaced because of severe regurgitation: the excised valves revealed myxomatous degeneration. None of the patients had any stigmata of Marfan or Ehlers-Danlos syndrome, except for the presence of hyperextensive joints. There may be an unknown collagen disorder that caused floppiness in all the valves.     

Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome

An infant with neonatal Marfan syndrome is described who presented with arachnodactyly, distinctive dysmorphic features and prolapse of both atrioventricular valves and dilatation of both the aortic and pulmonary root. She died in cardiac failure shortly after pacemaker implantation, due to dysrhythmia and severe mitral insufficiency. At autopsy, apart from myxomatous changes of the valves and dilated aortic and pulmonary roots, an aneurysm of the sinus of Valsalva of the pulmonary valve and abnormal myxomatous connective tissue surrounding the AV node were also found. Molecular genetic studies showed a point mutation in the fibrillin 1 gene that creates a new N-glycosylation site, which has been described once before.     

Left-sided anomalies in Ebstein's malformation of the tricuspid valve

Summary A review of 34 autopsied cases with classical Ebstein's malformation of the tricuspid valves revealed 8 cases with left-sided anomalies. Among these, appearing in 1 case each, were aortic atresia and persistent common atrioventricular canal. The latter 2 conditions were dominant clinically. In the remaining 6 cases the left-sided anomalies were not apparent clinically and probably of no functional significance. These conditions were parachute mitral valve, bicuspid aortic valve, cor triatriatum and pulmonary stenosis, cleft mitral valve, stenosis of individual pulmonary veins, and prolapse of mitral valve. This study was supported by Public Health Service Research Grant 5 RO1 HL05694 from the National Heart, Lung and Blood Institute.     

Echocardiographic findings in endomyocardial fibrosis.

An 18-month-old infant diagnosed as having endomyocardial fibrosis by echocardiography is presented. Most patients with endomyocardial fibrosis reported in the literature are either older children or adults. To our knowledge, our patient was the youngest ever to have been reported. Echocardiographic studies showed obliteration of the left ventricular apex and increased echo reflectance at the left ventricular endocardium and subendocardium. The left atrium and right ventricle were significantly enlarged. Doppler echocardiography showed minimal mitral, but significant tricuspid regurgitation. In regard to the contribution of echocardiography in the diagnosis, we recommend this method for suspected cases. Contrary to the other patients reported, there was no thickening of the atrioventricular valves. Mitral valve insufficiency was related to the restriction of the ventricular filling rather than to valve involvement occurring with the disease.     

Noncoronary Aortic Cusp Rupture in an Adult Patient With Ventricular Septal Defect: Echocardiographic Diagnosis

Aortic regurgitation is a common complication of ventricular septal defects. The most common mechanism is right or noncoronary cusp prolapse. Other mechanisms are right or noncoronary cusp fibrosis resulting in thickening and restricted motion of the leaflets or infective endocarditis leading to cusp perforation. We describe a case of subacute and severe aortic regurgitation due to noncoronary cusp prolapse resulting in the development of a large aneurysm and rupture of the noncoronary sinus of Valsalva into the right atrium.     

Herzkatheterinterventionen bei angeborenen Herzfehlern

Transcatheter therapy has gained an important role in the treatment of children with congenital heart diseases. Simple defects like atrial septal defects and patent ducts can often be cured completely by catheter interventions, while only a minority of patients with ventricular septal defects can be treated. Balloon dilatations of the pulmonary and aortic valves are well accepted interventions. Stents, sometimes covered with a membrane, are very efficient for eliminating vessel stenoses and are also increasingly being implanted in younger children with aortic coarctation. The latest development with considerable impact on the treatment of congenital heart defects is the transcatheter pulmonary valve implantation. Finally, hybrid therapy joins surgical and transcatheter interventions in one single procedure to combine the specific advantages of the respective methods.     

Anatomic features of congenital pulmonary valvar stenosis

Summary A total of 31 specimens of hearts with congenital pulmonary valvar stenosis were studied. To define the anatomy of the normal pulmonary valve, 210 specimens of hearts considered to have a normal pulmonary valve were also reviewed. On the basis of gross morphology of the valve leaflets and annulus, the stenotic valves were subgrouped into domed, unicommissural, bicuspid, tricuspid, hypoplastic annulus, and dysplastic. The valve leaflets in all subgroups were thickened. The thickness varied in degree, but involved the entire length of the leaflet. Microscopically, the thickness in most cases was due to an increase in myxomatous tissue. In a few cases, the elastic and collagen components of the leaflet were increased. The valve annulus was abnormal in most cases. The abnormalities included replacement of the fibrous backbone of the annulus by myxomatous tissue and partial or complete absence of the annulus. The impact on valvar anatomy by direct surgical valvotomy (14 patients) and closed Brock valvotomy (two patients) was reviewed. Precise knowledge of pulmonary valve anatomy is an aid to successful balloon pulmonary valvuloplasty.     

Autologous Ross Operation for Congenital Aortic Stenosis

Congenital aortic stenosis is a relatively common cardiac anomaly encountered in approximately 5% of all children with heart disease. The Ross procedure is increasingly used for replacement of the aortic valve in children. We report a 12-year-old boy who was born with congenital aortic stenosis secondary to a bicommissural aortic valve. The patient underwent open valvotomy in infancy and aortic valvuloplasty 2 years later. Residual/recurrent stenosis prompted referral for aortic valve replacement, and he underwent an autologous Ross procedure, in which the aortic root was replaced with a pulmonary autograft and the repaired aortic valve was used to restore right ventricular-to-pulmonary artery continuity. The postoperative course was unremarkable. Nitroprusside, esmolol, and labetolol were used to control postoperative hypertension. He was discharged 4 days after surgery on oral furosemide and aspirin, and he has had no cardiovascular symptoms during follow-up. Recent echocardiography demonstrated mild right ventricular outflow tract obstruction with a peak velocity of 3.6 m/sec, with a gradient of 42 mmHg and moderate pulmonary insufficiency. There was no left ventricular outlet tract obstruction or aortic insufficiency.