儿童先天性主动脉瓣上狭窄的外科治疗

目的 回顾总结儿童先天性主动脉瓣上狭窄(SVAS)的外科治疗经验,提高治疗水平.方法 1990年至2006年10月25例先天性主动脉瓣上狭窄患儿接受手术治疗.其中男16例,女9例,手术平均年龄(5.4±2.4)岁,平均体重(12.6±3.5)kg.影像学检查发现22例为局限性狭窄,主动脉瓣上0.5～2.0 cm处有狭窄段,3例为弥漫性狭窄.平均压力阶差(81.7±21.5)mmHg,William's综合征12例.所有患儿均在体外循环下行补片扩大主动脉成形术,11例以"泪珠"状补片扩大成形修补,14例以"裤衩"状补片扩大加宽主动脉狭窄部.补片材料选择应用自体心包17例,Dacron涤纶补片2例,Gore-tex人工血管补片6例,其中内衬自体心包片1例.对伴发畸形同时加以纠治.结果 术后检查主动脉瓣上流速、压差均明显下降,平均(26.0±13.2)mmHg,住院死亡1例,存活24例.结论 应用"泪珠"状和"裤衩"状补片进行主动脉扩大成形术矫治儿童主动脉瓣上狭窄有效,尤以"裤衩"状补片为首选,婴幼儿补片材料以自体心包为宜.     

经皮球囊主动脉瓣成形术:附6例报告

本文报告对6例小儿先天性主动脉瓣狭窄行经皮球囊主动脉瓣成形术(PABV)。年龄4～8岁(平均4.9岁)。结果:主动脉瓣环发育良好组4例,左室至升主动脉跨瓣压差8.8±1.7kPa,术后降至1.7±1.2kPa,Doppler超声随访跨瓣压差稳定下降;主动脉瓣环发育不良组2例,治疗效果不明显,非PABV首选指征。6例均无并发症。1例有轻度主动脉瓣返流。作者认为选用球囊应略小于瓣环或不超过瓣环的100～110%,双球囊扩张术对重症者及年长儿主动脉瓣环大于20mm时可选用。     

先天性心脏病围手术期气管狭窄的综合治疗

目的 通过分析先天性心脏病围手术期气管狭窄患儿的治疗及转归,探讨不同原因导致气管狭窄的治疗方法.方法 回顾性分析2012年1月至2015年10月收治的60例气管狭窄合并先天性心脏病患儿的临床资料.其中,男42例,女18例;年龄1～144个月,平均4个月;体重(6.65±3.40) kg.先天性心脏病合并先天性气管狭窄39例,继发性气管狭窄21例.结果 先天性气管狭窄合并先天性心脏病39例,实施先天性心脏病矫治+气管狭窄旷置28例,先天性心脏病矫治+气管成形术5例,先天性心脏病矫治+气管支架置入1例;术后远期死亡共计4例,放弃手术治疗死亡4例,放弃治疗门诊随诊1例.继发性气管狭窄21例,实施心脏畸形矫治后气管软化狭窄减轻,不需手术治疗.结论 先天性心脏病合并先天性气管狭窄的主要致病原因在于其完全性软骨环导致气管内径增速缓慢,气道梗阻严重,即使实施心脏手术也不能完全改善其气管狭窄症状,必要时需同时实施气道成形术.继发性气管狭窄的主要致病原因在于气管临近大血管的压迫,缓解血管环畸形后气管狭窄即刻缓解,疗效满意,无需实施气管成形术.     

吸入伊洛前列素对先天性心脏病患儿术后肺动脉高压的治疗作用

目的 评价吸入伊洛前列素对先天性心脏病术后肺动脉高压的疗效,并初步探讨其机制.方法 以中国医学科学院阜外心血管病医院小儿心脏中心PICU收治的体外循环下双心室矫治手术后合并肺动脉高压13例患儿为研究对象,在术后48 h内常规治疗的基础上,给予有效剂量伊洛前列素25 ng/(kg·min),每次吸入10 min,每4小时1次.观察患儿的血流动力学改变,采用酶联免疫吸附法检测血浆cAMP和cGMP浓度.结果 13例患儿平均年龄(17.88±12.56)个月,平均体质量(9.29±3.59)kg.治疗前右房压、肺动脉收缩压、肺动脉收缩压/主动脉收缩压比值分别是(11.5±1.41)mm Hg(1 mm Hg=0.133 kPa)、(61.64±13.6)mm Hg和0.66±0.16;治疗后20 min分别降至(9.88±1.88)mmHg、(47.67±12.18)mm Hg和0.52±0.15;治疗前后差异均有显著性(P＜0.01).治疗后120 min伊洛前列素疗效仍然存在.治疗前患儿血浆cAMP浓度为(335.75±127.31)μg/L,治疗后20 min升至(519.68±148.54)μg/L,治疗前后差异有显著性(P＜0.01).治疗前后血压、呼吸机条件和血浆cGMP浓度没有明显变化(P＞0.05).结论 对于先天性心脏病术后合并肺动脉高压患儿,吸入伊洛前列素可以显著降低肺动脉压力、改善肺循环血流动力学状态,可能与增高血浆cAMP浓度有关系.吸入伊洛前列素对体循环和呼吸功能影响小,未观察到明显不良反应.     

婴幼儿血管环合并先天性气管狭窄的诊断与治疗

目的 探讨血管环合并先天性气管狭窄的手术方式,以降低手术风险.方法 回顾性分析通过CT影像学检查、纤维支气管镜、彩色多普勒超声心动图等明确诊断的血管环患儿53例,年龄5.0 d～2.5岁,中位年龄12.5个月,包括肺动脉吊带,双主动脉弓,右弓合并异常左锁骨下动脉,无名动脉压迫等.其中12例(男8例,女4例)伴气管狭窄症状.患儿均行手术治疗,8例死亡,出院病例随访3～5年,间隔时间6个月.结果 53例患儿分为2组.41例(男25例,女16例)无气管狭窄的患儿行血管环矫治,3例死亡,病死率为7.3％.12例(男8例,女4例)血管环合并气管狭窄患儿,其中7例行选择性血管环矫治,2例死亡;5例行血管环矫治+气管狭窄修补,3例死亡,病死率为41.7％.41例无气管狭窄的病例中,7例有心内畸形,2例死亡.12例合并气管狭窄的患儿,3例存在心内畸形,2例死亡;5例行心脏及气管联合手术,3例死亡,7例行选择性血管环修补,2例死亡.结论 血管环合并气管狭窄的患儿,并不均需要同时矫治血管环及气管狭窄.气管狭窄、合并心内畸形均增加了血管环患儿的手术风险,对此类患儿需制订个体化的治疗方案.     

左房顶径路矫治低体质量儿心上型完全性肺静脉异位引流12例

目的 探讨左房顶径路矫治低体质量儿心上型完全性肺静脉异位引流(TAPVC)的疗效.方法 选择本院2009年3月-2011年4月,低体质量TAPVC患儿12例.其中男7例,女5例;年龄10个月～12岁[(5.22±1.25)岁];体质量8.4～ 15.0(10.4±3.1) kg.患儿均在全麻、中低温体外循环下经左房顶径路完成矫治手术.正中切口纵劈胸骨入胸,经横窦,上腔静脉与升主动脉之间显露共同肺静脉干及左心房,将其侧侧吻合.体外循环时间52～102(67.2±14.2) min,其中主动脉阻断时间39 ～75(45.3±12.5) min.结果 术后早期(30 d内)无死亡,其中低心排出量综合征5例、心房扑动1例、交界性心律1例、肺部感染5例,均经治愈出院.11例随访1～3a,无死亡,其中出现交界性心律Ⅰ例,余均为窦性心律;随访超声心动图示吻合口无压力阶差10例,轻度狭窄1例.结论 在治疗心上型TAPVC时,选择左房顶径路治疗低体质量儿心上型TAPVC临床效果满意.     

小儿主动脉瓣下狭窄的外科治疗及疗效观察

目的 探讨小儿主动脉瓣下狭窄(subvalvular aortic stenosis,SAS)的外科治疗方法并观察其治疗效果.方法 统计1990年1月至2010年12月我院收治并进行手术治疗的22例SAS,男15例,女7例,年龄8个月至15岁,平均(5.93±3.90)岁.随访时间1个月至13.5年,平均(7.30±5.60)年.22例中单纯SAS 5例,合并其他心内畸形为:室间隔缺损16例,右室双腔2例,动脉导管未闭2例.22例患儿全部进行外科手术治疗,行单纯隔膜状狭窄或肌纤维环切除术18例,加左室肥厚心肌切除术3例.1例合并动脉导管未闭患儿先经左胸行动脉导管结扎术,随访6年后再次手术行单纯隔膜狭窄切除术.结果 所有患儿手术顺利,22例中治愈19例(86.36％),复发3例(13.64％),无死亡病例.治愈病例中,临床症状均消失,经超声心动图检查,均未见主动脉瓣下狭窄复发,无左室到主动脉收缩期压力阶差.3例复发患儿随访时间分别为4年、10年、12年.结论 小儿主动脉瓣下狭窄的外科治疗关键是彻底解除左室流出道梗阻,避免二尖瓣、主动脉瓣及传导束损伤.术中梗阻解除不彻底以及术后局部组织过度生长可能是SAS术后复发的重要因素.     

儿童主动脉瓣瓣叶扩大成形术的近中期疗效分析

目的分析应用自体心包行主动脉瓣瓣叶扩大成形术治疗儿童主动脉瓣疾病的近中期效果。方法回顾性分析2017年9月至2021年6月在阜外华中心血管病医院行自体心包主动脉瓣成形术的26例主动脉瓣疾病(狭窄或关闭不全)患儿的临床资料, 收集近中期随访时资料, 比较术前和术后主动脉瓣最大跨瓣压差、主动脉瓣下反流面积、左心室舒张末期容积(LVEDV)和左心室射血分数(LVEF)等相关指标, 并采用配对t检验分析自体心包主动脉瓣扩大成形术的近中期疗效。结果 26例患儿手术均获得成功, 术后随访无死亡和严重并发症病例, 随访时间(22.96±6.45)个月。术后近中期主动脉瓣狭窄或狭窄合并轻中度关闭不全患儿中与术前主动脉瓣跨瓣压差比较, 术后1个月(t=7.85, P<0.05)、6个月(t=6.43, P<0.05)、1年(t=6.16, P<0.05)、2年(t=4.22, P<0.05)差异均有统计学意义;单纯主动脉瓣狭窄9例患儿随访结果, 术前舒张期主动脉瓣反流面积(8.87±3.57) cm2, 术后1个月、6个月、1年和2年主动脉瓣反流面积与术前比较差异均有统计学意义(...     

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。     

婴儿主动脉弓阻塞病变的外科治疗

目的 总结8年来56例婴儿主动脉弓阻塞病变的外科治疗经验.方法 2001年5月至2009年6月,本院采取经正中切口一期矫治婴儿主动脉弓阻塞病变56例,其中男32例,女24例;年龄16 d至11个月;体重2.3～7.3 kg;主动脉弓中断A型22例,B型3例;主动脉缩窄31例.合并室间隔缺损（VSD）及动脉导管未闭（PDA）55例,房间隔缺损（ASD）6例,右室双出口（DORV）1例,完全性大动脉转位（TGA）1例.均采取经胸骨正中切口深低温停循环下一期矫治手术,采用降主动脉与主动脉弓端端吻合41例,端侧吻合前壁自体心包片加宽弓成形15例.对合并圆锥部VSD者,为避免远期左室流出道梗阻采用0.4 mm Gore-Tex补片Luciani法修补VSD.结果 围术期死亡2例,病死率3.57%;出现喉返神经损伤2例,跨主动脉弓压差3例,均＜20 mmHg.54例存活患儿随访4个月至8年,生长发育良好,无远期主动脉狭窄及左室流出道梗阻,无神经系统并发症.多普勒超声测定跨修复点压力阶差（1.5±0.7）kPa,较术前（6.7±2.3）kPa,显著降低（t=2.51,P＜0.05）.结论 婴儿主动脉弓阻塞合并心内畸形宜早期手术治疗,经胸骨正中切口一期矫治手术安全有效.     

CONGENITAL HEART DISEASE AND ITS ASSOCIATION WITH OTHER CONGENITAL MALFORMATIONS FOUND AT AUTOPSY

The objective was to determine if a study of other malformations found at autopsy in patients with congenital heart disease would contribute to an understanding of the mechanisms involved in the formation of these anomalies. In a large general hospital autopsies in children with congenital heart disease were selected, and the different cardiopathies were divided into 3 groups: those with isolated heart lesions, those with single gene mutants, as well as chromosome malformations, and those with idiopathic malformations not associated with a genetic syndrome. Because the cardiopathies most often associated with genetic syndromes were the septal defects in general (p = .001), it was presumed that these are influenced to a considerable extent by genetic factors. The association of left heart hypoplasia and coarctation of the aorta with multiple idiopathic malformations, particularly in the lower half of the body (p = .002), suggests that the latter may be due to vascular disruptions, because of the interruption of the flow of oxygenated blood in the embryo-fetus produced by these heart defects. Cranial defects were not associated with left heart obstruction, and are therefore unlikely to be produced by vascular disruption.     

Transient congenital hypothyroidism after amniofetography

A newborn infant who presented with goitrous congenital hypothyroidism is described. Thyroid dysfunction was due to amniofetography performed 4 days before delivery, during which a total of 5.22 g of iodine as water- and lipid-soluble contrast medium was injected. After oral l-thyroxine treatment hypothyroidism disappeared rapidly. Thyroid function remained normal when treatment was withdrawn after 28 days, underlining the transient character of hypothyroidism.     

Congenital muscular dystrophy,brain malformation and ocular problems (muscle,eye and brain disease) in two german families

We report on two brothers and an unrelated girl with congenital muscular dystrophy (CMD), brain malformation and ocular changes (strabismus, myopia, glaucoma, cataracts, retinal dystrophy). Correlations with the inherited autosomal recessive syndromes of CMD, including the Fukuyama-type CMD with CNS malformation, and the Muscle, Eye and Brain Disease published by Santavuori are discussed.     

Surgical correction of congenital megaprepuce

Congenital megaprepuce (CMP) is a rare entity. Two infant boys presented with a tight congenital phimosis resulting in an excessively baggy, urine-filled prepuce and a swollen scrotum. Compression of the scrotum resulted in drainage of urine. We feel this to be a separate entity from a buried penis and recommend early surgery. The phimotic tip of the foreskin was excised and the inner layer preserved to cover the full length of the penile shaft. The outer layer of the foreskin, in reality the penoscrotal junction, was anchored to the base of the penile shaft. A V-shaped edge of ventral skin was excised and the edges approximated, giving the appearance of median raphe. The final appearance was that of a circumcised penis. A third patient awaits operation. Accepted: 25 November 1998     

Kongenitale Muskeldystrophie

Zusammenfassung Es wird über vier Kinder mit kongenitaler Muskeldystrophie berichtet. Alle Patienten boten bereits bei der Geburt das typische klinische Bild mit Schwäche und Hypotonie einer mangelhaft angelegten Muskulatur. Die Diagnose wurde histologisch gesichert. Dabei waren Veränderungen zu beobachten, die dem Endstadium der progressiven Muskeldystrophie entsprechen: Atrophierte und (pseudo)hypotrophierte Muskelfasern mit deutlichen Kaliberschwankungen; Vermehrung des peri- und endomysialen Bindegewebes sowie interstitielle Makrophagenaktivierung.Bei einer Patientin (B. H.) war der Nachweis eines IgG-Paraproteins bemerkenswert; ein solcher Befund ist bisher nicht beschrieben worden.

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Congenital muscular dystrophy

Four cases of congenital muscular dystrophy are reported. All patients presented a clinical picture which was characterized by muscular weakness and hypotonia already manifest at birth. The diagnosis was confirmed by a muscle biopsy. The histological findings were similar to those observed in the final stage of progressive muscular dystrophy: Atrophic and (pseudo) hypertrophic fibres with great variations in size, an increase of perimysial and endomysial connective tissue, and an interstitial activation of macrophages.In one case (B. H.) an IgG-paraproteinemia was found which seems remarkable; similar observations in combination with muscular dystrophy have not yet been described in the literature.

Herrn Professor Dr. K. H. Schäfer zum 60. Geburtstag     

Congenital tuberculosis: a case with unusual features

A case of congenital tuberculosis with primary complex in the liver, localised lymphadenitis and tubercular abscess in the neck, delivered to a mother who had tubercular meningitis is discussed.     

Congenital syphilis: A guide to diagnosis and management

Although congenital syphilis is a rare disease in Canada, infected infants may experience severe sequelae, including cerebral palsy, hydrocephalus, sensorineural hearing loss and musculoskeletal deformity. Timely treatment of congenital syphilis during pregnancy may prevent all of the above sequelae. However, the diagnosis of suspected cases and management of congenital syphilis may be confusing, and the potential for severe disability is high when cases are missed. The present review provides assistance to practitioners in the diagnosis of suspected cases and management of children with presumed or confirmed infection.     

CONGENITAL LEUKAEMIA

A report is submitted of a case of leukaemia of myeloid type in a newborn boy who died on the 7th day of life, despite anti-leukaemic therapy. The available reports on congenital leukaemia and on children born of mothers with leukaemia in pregnancy do not give any clue to the aetiology.     

Associated anomalies in children with congenital solitary functioning kidney

Congenital solitary functioning kidney (CSFK) is a relatively common renal malformation and in children is frequently complicated by anomalies of the ipsilateral genital organs and occasionally by anomalies of other organs. The aim of this study was to determine the incidence of associated urological, cardiac, gastrointestinal, hematological, neurological, skeletal, and other congenital malformations in children with CSFK. We retrospectively reviewed 87 consecutive cases of CSFK diagnosed at our hospital between 1995 and 2003. There were 45 boys and 42 girls, whose ages at diagnosis ranged from newborn to 16 years (mean 4.67±4.48 years). In all patients, CSFK was diagnosed by abdominal ultrasound and confirmed by radionuclide studies. In 46 patients (53%) the left kidney was absent, and in 41 patients (47%) the right kidney was absent. Overall associated anomalies were detected in 52 of the 87 children (60%) with CSFK. Urological anomalies were most common, with an incidence of 37% (32/87). Nonurological anomalies were detected in 38 children (44%) with CSFK; these included cardiac anomalies in 13, gastrointestinal anomalies in eight, hematological anomalies in five, neurological anomalies in three, and other organ anomalies in nine. In our study, more than half of the patients with CSFK had associated anomalies. For this reason we recommend abdominal ultrasound and voiding cystourethrogram for early recognition of urological anomalies and a careful physical examination for other organ anomalies in patients with CSFK.     

Congenital lobar emphysema: experience with 21 cases

A retrospective study of all cases (n=21) of congenital lobar emphysema (CLE) treated at the Royal Hospital, Muscat, from September 1988 to August 1999 was performed. The presentation, diagnosis, treatment, and outcome are reviewed. All 21 patients were non-white. Thirteen had left-upper-lobe, 7 right-middle-lobe, and 1 right-upper-lobe involvement. Of the 14 upper-lobe cases, 10 had severe symptoms whereas only 2 of the 7 middle-lobe cases had severe symptoms. Mildly symptomatic cases on conservative treatment invariably needed surgery if infected. It is concluded that CLE is not limited to white infants, upper-lobe disease is more severe than middle-lobe disease, and nonoperative measures are likely to be useful in mildly symptomatic cases involving the middle lobe. Accepted: 12 May 2000