儿科医学-先天性心脏病

先天性心脏病

CongenitalHeartDiseases出生后血压的变化出生后24h－65／40mmHg1岁－85／50mmHg4岁－90／50mmHg6岁－94／60mmHgBloodPressure血压

－摘引自福州军区总医院儿科资料年龄分组收缩压舒张压7～103.5±10.069.9±10.09～105.1±10.369.4±10.211～105.7±13.270.8±10.913～107.9±12.469.5±9.4身高增长10cm，血压升高3－3.5／2－2.5mmHg体重增加4kg，血压升高2.5－3／1－2mmHg

年龄增长1岁，血压升高2－2.5／1.0－1.5mmHg

摘自广东省农村3826名儿童血压普查资料CHD发病情况6～8／‰（活产新生儿）15万／年（新病人）先心病占所有先天畸形的28%。根据WHO提供的资料，全球每年有150万儿童出生时患有先心病。美国国家卫生统计中心统计，1988-1990年间有30余万1岁以内的活产婴儿，得出发病率为1.37%。澳大利亚1999-2003年通过出生缺陷等级系统分析得出活产婴儿先心病发病率为1.09%。研究发现，先心病发病率具有一定的规律，即出生时仅能发现40-50%的病例，出生1个月后可发现50-60%，1岁时可达90%左右。EtiologicAspects&PreventionofCHD遗传因素：1.染色体畸变：CONGENITALHEARTDISEASES(CHD)INSELECTEDCHROMOSOMALABERRATIONSPopulationstudiedIncidenceMostcommonofCHDlesionsGeneralpopulation1VSDPDAASD4p-40VSDASDPDA5p-25VSDPDAASDCgroupanomalies5-50VSDPDA13trisomy90VSDPDA13q-50VSD18trisomy99+VSDPDAPS18q-50VSD21trisomy50VSDAVcanalASDXOTurner35COAASASDXXXXT14PDAASD2.单基因突变：常染色体显性遗传：MarfanHolt-Oram

常染色体隐性遗传：EllisVanGreveld

Pompe

性染色体显性／隐性遗传：

这类中多合并升主动脉扩张、动脉瘤、房室间隔缺损、单心房、心肌病神经嵴发育异常：

“畸形心脏是古老心脏”－Taussig环境因素：teratogen(致畸因子)

宫内感染：孕期前三个月理化因素：放射线、药物、农药等代谢紊乱：糖尿病宫内缺氧及不良嗜好：酗酒、吸毒主要为多基因与环境因素相互作用

多个致病基因相加＋致病环境因素预防的重点在妊娠期的前三个月CHD分类LtoR:VSDASDPDARtoL:ToFTGANon-shunt:ASPS室间隔缺损(VSD)

VentricularSeptalDefects

Inthiscase,theholeor"defect"isintheheartmuscleformingawallbetweentheventricles(theintraventricular"septum").

Theheartcandilate,themusclecanbecomeweak,andthepressuresinthepulmonaryarteriescanincrease(pulmonaryhypertension)duetotheincreaseinbloodflow.1.EPIDEMIOLOGYItwasreportedinthatapproximately20%ofcongenitalheartpatientshaveaVSDasasolitarylesion.TheincidenceofVSDinalllivebirthsisapproximately1.5~2.5per1,000.Rarely,theseholescanbeassociatedwithotherdefectsoftheheart.2.PATHOLOGY

2.PATHOLOGY3.PATHOPHYSIOLOGY3.PATHOPHYSIOLOGYOxygenatedbloodfromtheleftventricleshuntsviatheholeintotherightventricle.Thisvolumeloadcausesenlargementofbothventriclesandthepulmonaryartery,andexposestherightventricleandpulmonaryarteriestoabnormallyhighpressures.3.PATHOPHYSIOLOGYRV、PA、LA、LV的血流量增加A、V、RA的血流量下降

RVRAVPCLALVA3.PATHOPHYSIOLOGY1.PulmonaryHypertensionEisenmenger’SyndromeSmalldefectModeratedefectLargedefectslowpulmonaryvascularresistancevariablepulmonaryvascularresistancemarkedelevationofpulmonaryvascularresistance3.PATHOPHYSIOLOGY与缺损口面积(分流量)及肺血管对高流量、高冲击力的反应强弱而不同肺小动脉痉挛动力性PAH---可逆肺小动脉肌层、内膜增厚

(变性)阻力性PAH-不可逆

3.PATHOPHYSIOLOGY2.HeartFailure:多见于＜1Y和＞14Y3.SBE：多见于＜1Y，＞30Y少有发生4.Pneumonia5.自发闭合4.MANIFESTATIONS

(ClinicalFeatures)

1.History:

SmallDefects(＜0.5cm)症状轻Moderate-sizedDefects(0.5-1.0cm)症状明显

LargeDefects(＞1.0cm)症状重4.MANIFESTATIONSInthefirst1to2weeksoflife,babieswithlargeventricularseptaldefectsmaydoverywell.Butasthepressureintherightsideoftheheartdecreases,bloodwillstarttoflowtothepathofleastresistance.Thiswillgraduallyleadtosymptoms(i.e.,failuretothrive,feedingdifficulties,congestiveheartfailure

….)

andmustbetreated.

4.MANIFESTATIONSSmallventricularseptaldefectsrarelycauseproblems.Aphysicianusuallydiscoverstheseholesbynoticinga

murmuronaroutinephysicalexam.Mostoftheseholeswillcloseontheirown,particularlyiftheyareinthemuscularportionoftheseptum.Eveniftheseholesdonotclose,theywillrarelycauseanyhealthproblems.4.MANIFESTATIONSLargeventricularseptaldefects

cancauseproblems,ofteninthefirstfewmonthsoflife.4.MANIFESTATIONSMediumormoderateventricularseptaldefectsaremorechallengingtopredict.Sometimesbabiesbornwithmoderateventricularseptaldefectswillhaveproblemswithcongestiveheartfailurelikebabieswithlargeventricularseptaldefects.Otherswillhavenoproblemsatallandjustneedtobewatched.

4.MANIFESTATIONS

2.

PhysicalExamination:望心前区隆起心尖搏动弥散触L3-4触及收缩期震颤扣心浊音界向左扩大听1.L3-4闻及3-4／6SM,粗糙,向心尖部及背部广泛传导2.PⅡ亢强3.心尖部的DM-----二尖瓣相对狭窄5.SPECIFICEXAMINATIONS

EKG

5.SPECIFICEXAMINATIONS

5.SPECIFICEXAMINATIONSEcho嵴下型VSD5.SPECIFICEXAMINATIONS隔瓣后型VSD5.SPECIFICEXAMINATIONS干下型VSD5.SPECIFICEXAMINATIONS肌部VSD5.SPECIFICEXAMINATIONS肌部室间隔缺损彩色血流图5.SPECIFICEXAMINATIONS室间隔膜部瘤5.SPECIFICEXAMINATIONS单心室5.SPECIFICEXAMINATIONS5.SPECIFICEXAMINATIONSMembraneousVSD5.SPECIFICEXAMINATIONS5.SPECIFICEXAMINATIONSThepurposesoftheCCareprimarilyto:①documentthepresenceofthedefectordefects;②evaluatethemagnitudeofshuntingacrossthedefect;③estimatepulmonaryvascularresistance;④estimatetheworkloadofthetwoventricles;⑤documentorruleoutthepresenceofassociateddefects,and⑥toprovidethesurgeonwithaclearanatomicpictureofthelocationofthedefects.

5.SPECIFICEXAMINATIONSCathetercoursesfromtheinferiorvenacavaintotherightatrium,thenthroughapatentforamenovaleintotheleftatriumthenleftventricle.

5.SPECIFICEXAMINATIONS

5.SPECIFICEXAMINATIONS

5.SPECIFICEXAMINATIONS

5.SPECIFICEXAMINATIONS6.TREATMENT1、一般治疗和并发症的处理：纠正一般情况呼吸道感染的处理肺动脉高压的处理

SBE的治疗6.TREATMENTManytimesobservationistheonlytreatmentneeded,withregularcheckupswiththecardiologist.Thismaybeasinfrequentaseverytwotothreeyearsinolderchildrenwithsmallventricularseptaldefectstoweeklyinbabieswithlargeventricularseptaldefects.

6.TREATMENT

OPERATIONBeforeoperationAfteroperation6.TREATMENTInterventionalTreatmentofVSD

Amplatzer

Septal

Occluder6.TREATMENT6.TREATMENT6.TREATMENT6.TREATMENT6.TREATMENT

房间隔缺损(ASD)

Atrial

SeptalDefectsThisdefectischaracterizedbyincompleteclosurebetweenthetwoupperchambersoftheheart.Bloodcanthereforeflowthroughahole(defect)inthewall(septum)betweentheupperchambersoftheheart(atria)fromonesidetotheother,causingsomeheartchamberstohavetopumpextrablood.Theheartcandilate,themusclecanbecomeweak,andthepressuresinthepulmonaryarteriescanincrease(pulmonaryhypertension)duetotheincreaseinbloodflow.Ifthedefectclosesonitsownorwiththeaidofinterventionaltherapyorsurgery,theseconsequencescanbeavoided.

1.EPIDEMIOLOGYsASDoccurredin20~30%ofpatient,theratioofaffectedfemalestomalesis2∶1.MostsmallASD'swillclosespontaneouslybyage3years.2.PATHOLOGICANATOMY

ForamenSecundum:MostMostcommontypeofASD(60%).Defectislocatedatatthefossa

ovalis(midportionoftheatrial

septum).

2.PATHOLOGICANATOMY

2.PATHOLOGICANATOMY

SinusVenosus:DefectisishighinposteriorportionoftheinteratrialseptumandtheSVCusuallyoverridesthedefect.SinusvenosusASD'sareareassociatedwithpartialanomalouspulmonaryvenousreturn.3.PHYSIOLOGYRA、RV、PA、LA↑LV↓Althoughthesizeofthedefectsaffectstheflowofbloodfromthelefttotherightatrium,thedefectsusuallylargeandshuntdependsontherespectivefillingresistancesintherightandleftventricles.

3.PATHOPHYSIOLOGYRA、RV、PA、LA的血流量增加A、V、LV的血流量下降

RVRAVPCLALVA4.MANIFESTATIONSInmostchildren,atrial

septaldefectscausenosymptoms.Averylargedefectmayallowsomuchbloodflowthroughittocausecongestiveheartfailuresymptomssuchasshortnessofbreath,easyfatigability,orpoorgrowth.4.MANIFESTATIONSMostoftenanatrial

septaldefectisdiagnosedwhenaphysicianhearsaheartmurmurduringaphysicalexamination.

4.MANIFESTATIONS望：心尖搏动弥散心前区隆起触：（—）扣：心浊音界扩大听：1.L2-32-3/6SM柔和传导不明显

2.PⅡ亢强固定分裂

3.三尖瓣区DM

肺动脉瓣区收缩早期喷射音4.MANIFESTATIONSThemurmurdoesn'tactuallycomefrombloodgoingacrossthehole,butratherfromthepulmonaryvalveareabecausetheheartisforcinganunusuallylargeamountofbloodthroughanormalsizedvalve.Thesecondheartsoundischaracteristically"split"whichisdifferentthanwhatisheardwhenlisteningtoanormalheart.5.SPECIALEXAMINATION5.SPECIALEXAMINATION胸部侧位片5.SPECIALEXAMINATION5.SPECIALEXAMINATION5.SPECIALEXAMINATION

5.SPECIALEXAMINATION继发孔型ASD5.SPECIALEXAMINATION原发孔型ASD5.SPECIALEXAMINATION上腔型ASD5.SPECIALEXAMINATIONASD右心扩大5.SPECIALEXAMINATION房间隔分流的彩色血流图5.SPECIALEXAMINATION原发孔房间隔缺损彩色血流图5.SPECIALEXAMINATION上腔型房间隔缺损彩色血流图5.SPECIALEXAMINATION多发房间隔缺损的彩色血流图5.SPECIALEXAMINATION5.SPECIALEXAMINATION5.SPECIALEXAMINATION原发孔型ASD5.SPECIALEXAMINATION5.SPECIALEXAMINATIONASD5.SPECIALEXAMINATION5.SPECIALEXAMINATION6.TREATMENTInsomechildrenanASDmaycloseonit'sownwithouttreatment.

Withasmallatrial

septaldefect,thismaybeashighas80percentinthefirst18monthsoflife.AnASDstillpresentby3yearsofagewillprobablynevercloseonitsown.6.TREATMENTAmplatzer

Septal

OccluderDependingonthesizeandtheareaoftheseptuminvolved,manyatrial

septaldefectsmaybeclosedbyplacementofadevicecalledanAmplatzer

Septal

Occluderduringacardiaccatheterization.Thisdeviceisins