目的 探讨染色体异常与先天性心脏病(先心病)的关系.方法 回顾性分析复旦大学附属儿科医院1990年1月至2006年12月所进行染色体检查的患儿中染色体异常的核型种类,并统计先心病患儿染色体的核型特点.结果 共检测4 046例患儿的染色体,染色体异常660例(16.3%),其中常染色体异常以唐氏综合征最常见(458例,69.4%);性染色体异常以特纳综合征最常见(105例,15.9%).接受染色体检查的患儿中先心病391例,其中染色体异常者185/391例(47.3%),157/185例核型表现为唐氏综合征, 4/185例核型表现为特纳综合征.先心病中圆锥动脉干畸形105例,其染色体核型异常发生率较低,仅为16/105例(15.2%)(P＜0.05).染色体核型正常的先心病患儿中,圆锥动脉干畸形和非圆锥动脉干畸形分别有95和111例.结论 染色体核型异常与先心病之间存在密切的相互联系.染色体核型异常易合并先心病;某些先心病患儿的染色体核型异常发生率明显升高.但圆锥动脉干畸形与常见染色体异常间无密切联系.因此,对于染色体异常患儿应常规进行心脏检查,以及早发现先心病.另外,尽管某些先心病患儿的普通染色体核型检查未发现异常,但有必要寻找更合适的检测技术提高染色体异常的检出率.

OBJECTIVETo investigate the clinical features of coarctation of aorta (CoA).METHODSThe clinical data of 96 pediatric patients with CoA, 60 male and 36 female, aged 3.7 months (7 - 12 years), were analyzed.RESULTSThe male to female ratio was 1.7:1. Infants aged less than 6 months accounted for 60% (57/96). The proportion of CoA in all hospitalized patients with congenital heart diseases admitted in this hospital was 0.5% (5/924) in 1996, increased every year, and reached 4.3% (15/330) in 2005. The coarctation was situated at the distal end of the left subclavian artery opposite to or near the ductus arteriosus in 93 cases, between the left common carotid artery and left subclavian artery in 2 cases, and at the opening of the left subclavian artery in 1 case. Thirteen patients (4%) suffered only from CoA, 47 patients were complicated with patent ductus arteriosus (PDA, 47/96, 49%) and/or ventricular septum defect (VSD, 47/96, 49%), 22 of the 96 patients (23%) complicated with both PDA and VSD. Eighty-nine cases were diagnosed by echocardiography, however, echocardiography failed to diagnose CoA in 7 cases (7.3%). Fifty-five patients underwent surgical repair and 2 of them died with a mortality of 3.8%. Seven patients with large VSD and severe pulmonary hypertension underwent two-stage repair. Immediate post-operative echocardiography showed satisfactory outcome.CONCLUSIONThe morbidity of CoA among Chinese is similar to that among the Western population. Most of the coarctation is situated at the distal end of the left subclavian artery opposite to or near the ductus arteriosus, and most of the cases are complicated by PDA and/or VSD. Echocardiography is the first choice in the diagnosis of CoA; however, angiography is still necessary in some cases. Primary radical operation is indicated for infants with CoA, but older patients, especially those complicated with VSD and severe pulmonary hypertension, should undergo two-stage procedure.

小儿急性重症病毒性心肌炎,又称暴发性心肌炎.起病急骤,病情进展迅猛,早期常以心外表现为主,可突然发生充血性心力衰竭、心源性休克或致死性的心律失常.由于其临床表现缺乏特异性,早期确诊有一定难度,诊治如不及时,病死率极高.本研究通过分析1994年1月～2004年6月我院收治的13例小儿暴发性心肌炎的临床资料,探讨对其早期诊断及抢救治疗的要点。

临床资料患儿,男,11岁4个月.出生及居住于上海.因关节畸形10年余,反复尿少、全身浮肿8年余入院.患儿1 1/2岁时家长发现其双手中指、右手拇指、四肢各关节肿胀畸形,肢体稍有变细,当时无发热、皮疹及关节疼痛,关节活动无明显受限.

目的分析小儿晕厥的发病情况及病因.方法回顾性分析复旦大学附属儿科医院1995年6月至2004年6月以"晕厥或头晕"主诉收治住院的30例患儿临床资料.结果 30例患儿年龄在2～13(9.4±2.7)岁,男12例,女18例.神经系统疾病晕厥12例,占40.0%,包括颅内动脉供血不足7例,癫疒间1例,癔症2例,脑震荡1例,发作性头晕肘痛1例;心源性晕厥7例,占23.3%,3例为室上性心动过速,1例为长Q-T综合征伴阵发性尖端扭转性室速,另3例为法洛四联症缺氧发作;月经失血性贫血1例,占3.3%;其余10例病因不明,占33.3%,其中2例为运动后或站立时间过久.结论儿童晕厥发病年龄绝大多数在学龄期,女性多见,病因多种,有神经系统疾病、心源性等,青春发育期女性发生晕厥还应考虑到月经失血性贫血所致,另有1/3患儿病因不明,可能为神经血管介导性晕厥,需通过直立倾斜试验等检查及进一步随访以协助诊断.

目的评价经胸超声心动图(TTE)和经食管超声心动图(TEE)在应用Amplatzer封堵器关闭儿童房间隔缺损(ASD)中的应用价值.方法对12例拟诊为继发孔型ASD的儿童(年龄2～13岁),应用Amplatzer封堵器经导管关闭ASD.通过TTE和(或)TEE在术前显示ASD大小及其边缘的解剖特点,术中指导封堵器的放置,术后评价疗效.结果(1)12例中,TEE排除ASD诊断1例,诊断为下腔型ASD和显示缺损前上缘薄弱者各1例,这3例未实施封堵术.(2)TEE测量ASD大小(5～26mm,平均13.6mm),与ASD伸展径(7～30mm,平均16.6mm)具有高度相关性(r=0.994,P<0.01);与术前TTE测量ASD大小很接近(5～21mm,平均14.3mm),后者与ASD伸展径亦具有高度相关性(r=0.932,P<0.01).(3)9例实施封堵术者,有8例封堵成功;1例在封堵器释放后15min发生脱落,改为外科修补.(4)8例成功实施封堵术者经TTE随访1～22个月,无残余分流征象.结论应用Amplatzer封堵器经导管关闭ASD可取得良好效果;超声心动图在经导管关闭ASD过程中具有重要价值,TTE和TEE各具优点,TTE适用于病例的初步筛选和术后随访;而TEE则在决定是否进行封堵术和指导封堵器的正确放置等方面发挥重要的作用.

本组最近应用经胸实时三维超声心动图(RT-3DE)指导下对2例房间隔缺损(ASD)和1例室间隔缺损(VSD)经导管行封堵术,取得满意效果,现报告如下.

本届儿科大会心血管专业有特邀报告8篇,分会发言52篇,墙报120篇.内容涵盖先天性心脏病(先心病)、心肌炎、心力衰竭、心律失常、心肌病、川崎病、风湿性心脏病和感染性心内膜炎等小儿心血管疾病,其中有关先心病的研究内容最多.