1、Congenital Heart DiseaseChildrens Hospital Zhejiang University School of MedicineCardiovascular Development Key periods:the 2nd 8th weeksFetal CirculationPhysiological Changes in the Circulation After BirthvChanges in the pulmonary circulation vClosure of the ductus arteriosus vClosure of foramen ov
2、ale vArrest of circulation through the placenta Epidemiology of Congenital Heart DiseasevCongenital heart disease occurs in approximately 8 of 1000 live birthsvAbout 2-3 out of 1000 total newborn infants will be symptomatic with heart disease in the 1st yr of life Etiology The etiology of most speci
3、fic congenital heart defects is still unknown Genetic Factors:(1)single gene mutation or multifactorial inheritance pattern (2)certain types of VSD(supracristal)are more common in children of Asian background (3)the recurrence risk of congenital heart disease increases from 0.8%to about 2-6%if a 1st
4、 degree relative is affected.(4)approximately 3%of patients with congenital heart disease have an identifiable single gene defect,such as Marfan or Noonan syndrome (5)5-8%of patients with congenital heart disease have an associated chromosomal abnormality:90%of trisomy 18,50%of trisomy 21,40%of Turn
5、er syndromeInfective Factors:congenital rubella syndromeEnvironmental Factors:physical and chemical factorsDrug FactorsMaternal Diseases:Diabetes mellitus,SLEClassification of Congenital Heart DiseaseLeft to right Shunt Lesions:potential cyanotic CHD(ASD,VSD,PDA)Right to Left Shunt Lesions:cyanotic
6、CHD(TOF,TGA)No Shunt Lesions:acyanotic CHD(PS,AS,COA,MS,MVP)The Common Features of Left to Right Shunt CHDvPotential cyanosisvSystolic heart murmur in left sternal border(LSB)vPulmonary blood flow increasevSystemic blood flow decreaseDiagnostic MethodsvHistory and Physical ExaminationvECGvChest X-ra
7、yvEchocardiography M-mode,two dimension-morphology Pulsed,continuous wave and colour doppler Transesophageal Echocardiography(TEE)Fetal EchocardiographyvCatheterization pressure,resistance,oxygen saturation,cardiac output,pathway,angiocardiography,myocardial biopsy,electrophysiologic study,intervent
8、ional treatmentvMRI,CT,ECTTreatment in Patients with CHDvNon-operation Drug:PGE1,Indomethacin Interventional treatmentvOperationAtrial Septal Defect(ASD)Development of Atrial Septum Classification of ASDvOstium Primum Defect (AV Canal or Endocardial Cushion or Atrioventricular septal defect)In the l
9、ower portion of the atrial septum and overlies the mitral and tricuspid valves,common with a cleft in the anterior leaflet of mitral valve and mitral regurgitationvOstium Secundum DefectvSinus Venosus Defect Patent foramen ovale Isolated patent foramen ovale is usually of no hemodynamic significance
10、Type of Secundum ASDPathophysiology of ASDPathophysiology of ASD SVC IVC LV LA RA RV AO PV PA Hyperkinetic pulmonary hypertension extremely large pulmonary blood flow Obstructive pulmonary hypertension pulmonary arteriolar medial thickness pulmonary vascular obstructive disease RVP RAP RAPLAP RA to
11、LA Shunt cyanosis-Eisenmenger syndromeASDcomparative pulmonary valve stenosisPathophysiology of ASDv Left to right shunt can occur both in systole and diastole because the LA pressure is always little higher than the RA pressure both in systole and diastolev The degree of Left-to-Right shunting is d
12、ependent on:1.size of defect 2.relative compliances of the RV and LV 3.relative vascular resistances in the pulmonary and systemic circulationsPathophysiology of ASDvThe large blood flow through the right side of the heart results in:l.enlargement of RA and RV and dilatation of PA 2.the pulmonary ar
13、tery pressure(PAP)remains normal because of the absence of a high pressure communication between the pulmonary and systemic circulations 3.pulmonary vascular resistance remains low throughout childhood,but it may begin to increase in adulthood 4.the LV is normal in sizeClinical Manifestationsv Asymp
14、tomaticv A soft systolic murmur at the 2nd intercostal space of LSB(increased RV blood flow across the pulmonary valve-comparative pulmonary valve stenosis)v Typical wide and fixed splitting of P2(The pulmonic 2nd heart sound)throughout the respiratory cycle(increased RV blood flow producing a prolo
15、nged pulmonary valve close constantly throughout the respiratory cycle)Clinical Manifestationsv An early-to-mid diastolic murmur at the lower LSB(increased blood flow across the tricuspid valve-comparative tricuspid valve stenosis)v P2 louder and pulmonic ejection click when pulmonary hypertensionCh
16、est X-rayv Enlargement of the RA and RVv Pulmonary artery is largev Pulmonary vascularity is increasedv LV is normal v Enlargement of the LV in Ostium Primum DefectECGv Right axis deviationv Enlargement of the RA and RVv Minor right ventricular conduction delay(ICRBBB:an rsR pattern in the right pre
17、cordial leads)v Enlargement of the LV in Ostium Primum DefectEchocardiographyv Enlargement of the RA and RVv Ventricular septum and posterior wall of LV move in same directionv Position and size of ASDv Direction and degree of shunt in ASDCatheterization Oxygen saturation in RA is higher than in SVC
18、 and IVC Right cardiac catheter is easy to enter LA through the ASD Prognosis and Complicationsvsymptoms usually do not appear until the 3rd decade or latervpulmonary hypertension and heart failure are late manifestationsvinfective endocarditis is extremely rareTreatmentvSurgery is advised for all s
19、ymptomatic patients and also for asymptomatic patients with a shunt ratio of at least 2:lvThe timing for elective closure is usually at some time prior to entry schoolvOcclusion devices implanted by interventional cardiac catheterizationASD封堵器封堵器Interventional TreatmentVentricular Septal Defect（VSD）
20、The most common cardiac malformation accounting for 25-50%of CHDClassification of VSDv Membranous VSD most common defectv Outlet(supracristal,infundibular,subpulmonary)VSD situated just beneath the pulmonary valvev Inlet VSDv Muscular VSDAO LV RVH PA LA PV Hyperkinetic pulmonary hypertension extreme
21、ly large pulmonary blood flow Obstructive pulmonary hypertension pulmonary arteriolar medial thickness pulmonary vascular obstructive disease RVP RVPLVP RV to LV Shunt cyanosis-Eisenmenger syndromeVSDPathophysiology of VSDPathophysiology of VSDv The degree of Left-to-Right shunting is dependent on:1
22、.size of defect 2.pulmonary and systemic vascular resistancesv Left to right shunt is only in systole because the LV pressure is higher than the RV pressure in systole,and the both pressure is equal in diastolePathophysiology of VSDv The large blood flow through the VSD results in:l.Enlargement of L
23、V and LA(volume overload),dilatation of PA,enlargement of RV when pulmonary hypertension 2.Pulmonary hypertension:early:extremely large pulmonary blood flow Hyperkinetic pulmonary hypertension late:pulmonary arteriolar medial thickness and pulmonary vascular obstructive disease Obstructive pulmonary
24、 hypertension When the ratio of pulmonary to systemic resistance approaches 1:1,the shunt become bidirectional,signs of heart failure abate,and the patient becomes cyanosis-Eisenmenger syndromeClinical Manifestations according to the size of defect and the pulmonary blood and pressureSmall VSDv Asym
25、ptomaticv A loud,harsh,or blowing holosystolic murmur at the 3rd-4th intercostal space of LSB with thrillv Chest X-ray:normal or minimal cardiomegaly and a borderline increase in pulmonary vasculaturev ECG:normal or left ventricular hypertrophyLarge VSDv Dyspnea,feeding difficulties,poor growth,prof
26、use perspiration,recurrent pulmonary infections and cardiac failure in early infancyv Prominence of the left precordium and sternum,parasternal lift and systolic thrillv A loud,harsh,or blowing holosystolic murmur at the 3rd-4th intercostal space of LSBv P2 louder when pulmonary hypertensionv Mid-di
27、astolic,low-pitched rumble at the apex:increased blood flow across the mitral valveLarge VSDChest X-ray:v Gross cardiomegaly with prominence of LV,RV,LA and PAv Pulmonary vascular markings increase and frank pulmonary edema may be presentv Aortic knob is smallECG:Biventricular hypertrophy,P waves ma
28、y be notched or peakedEchocardiographyv Enlargement of the LA and LV,and RV and PA in patients with pulmonary hypertensionv Position and size of VSDv Direction and degree of shunt in VSD Catheterization Oxygen saturation in RV is higher than in RARV and PA pressure are normal or increaseRight cardia
29、c catheter can enter LV and Aorta through defect in some very large VSD patients Prognosis vThe natural course of VSD depends to a large degree on the size of the defect 30-50%of small perimembranous and muscular VSD will close spontaneously,most frequently during the 1st yr of life.The vast majorit
30、y of defects that close will do so before age 45 yr.It is less common for moderate or large defects to close spontaneously.Outlet VSD is no possible to close spontaneouslyComplicationsv The large VSD:repeated episodes of respiratory infection,congestive heart failure(CHF)and failure to thrive,and pu
31、lmonary hypertensionv Infective endocarditisTreatmentv Small VSD does not need restrictions of physical activity and surgery repair.These patients can be followed by a combination of clinical examinations and noninvasive laboratory tests until the defects has closed spontaneouslyv Large and outlet V
32、SD needs medical management to control CHF and to prevent the development of pulmonary vascular disease,and surgery repair early in patients with pulmonary hypertension肌部肌部VSD 封堵器封堵器Interventional TreatmentInterventional Treatment Patent Ductus Arteriosus (PDA)v During fetal life,most of the pulmona
33、ry arterial blood is shunted through the ductus arteriosus into the aorta.Functional closure of the ductus normally occurs soon after birthv The aortic end of the ductus is just distal to the origin of the left subclavian artery,and the ductus enters the pulmonary artery at its bifurcationFigure of
34、PDA AO PA PV LV LA Hyperkinetic pulmonary hypertension extremely large pulmonary blood flow Obstructive pulmonary hypertension pulmonary arteriolar medial thickness pulmonary vascular obstructive disease PAPAOP RVP RVH PA to AO Shunt Low extremity cyanosis(differential cyanosis)-Eisenmenger syndrome
35、PDAPathophysiology of PDAPathophysiology of PDADifferential CyanosisPathophysiology of PDAv The degree of Left-to-Right shunting is dependent on:1.the size of the ductus 2.ratio of pulmonary and systemic vascular resistancesv Left to right shunt can occur both in systole and diastole because the aor
36、tic pressure is always higher than the pulmonary arterial pressure both in systole and diastolePathophysiology of PDAv The large blood flow through the PDA results in:1.enlargement of LV and LA(volume overload),dilatation of PA,enlargement of RV when pulmonary hypertension 2.pulmonary hypertension:e
37、arly:extremely large pulmonary blood flow-Hyperkinetic pulmonary hypertension late:pulmonary arteriolar medial thickness and pulmonary vascular obstructive disease-Obstructive pulmonary hypertension 3.when the ratio of pulmonary to systemic resistance approaches 1:1,the shunt becomes bidirectional,s
38、igns of heart failure abate,and the patient becomes cyanosis(differential cyanosis)-Eisenmenger syndrome Pathophysiology of PDAv Small PDA:PAP,RVP and RAP are normalv Large PDA:PAP may be elevated to systemic levels during both systole and diastoleClinical ManifestationsAccording to the size of the
39、ductus:v Small PDA:Asymptomaticv Large PDA:poor feeding and retardation of physical growth,sometimes with hoarseness Clinical ManifestationsvProminence of the left precordium and apical impulse in large PDAvWide pulse pressure(40 mmHg)and bounding arterial pulse:peripheral blood vessel sign due to r
40、unoff of blood into pulmonary artery during diastolevThrill,maximal in the 2nd left intercostal space,may radiate toward the left clavicle,down LSB or toward apex,usually in systole,but also may be throughout the cardiac cycleClinical ManifestationsvClassic murmur:1.Continuous,machinery and rolling
41、thunder murmur 2.Begining soon after onset of the 1st sound,reaches maximal intensity at the end of systole,and wanes in late diastole 3.Located at the 2nd left intercostal space and radiate down the LSB or to left clavicle 4.When pulmonary vascular resistance increases or heart failure,the diastoli
42、c component of the murmur may be less prominent or absent Chest X-rayv Prominent pulmonary artery with increased intrapulmonary vascular markingsv Normal or minimal cardiomegaly in small PDA and marked cardiomegaly in large PDA.The chambers involved are LA and LV,and RV when pulmonary hypertensionv
43、Aortic knob is prominentECGv normal in small PDAv left ventricular or biventricular hypertrophy in large PDAEchocardiographyv enlargement of the LA and LV,and RV and PA in patients with pulmonary hypertensionv position,shape and size of PDAv direction and degree of shunt in PDA Catheterization 1.Oxy
44、gen saturation in PA is higher than in RV2.RV and PA pressure are normal or increase3.Right cardiac catheter can enter descending aorta through PDA in most of patients4.Angiocardiography is needed in some patients with very tiny PDAPrognosis and Complicationsv The patients with a small PDA may live
45、a normal span with few or no cardiac symptomsv Spontaneous closure of the ductus after infancy is extremely rarev The repeated episodes of respiratory infection,congestive heart failure,failure to thrive and pulmonary hypertension are common in large PDAv Infective endocarditis may be seen at any ag
46、e,pulmonary and systemic emboli may occurv Aneurysmal dilatation of the pulmonary artery or the ductusTreatmentv PDA in premature infant:indomethacinv Irrespective of age,patients with PDA require treatment(including surgical and interventional closure)in order to prevent infective endocarditis,cong
47、estive heart failure and the development of pulmonary vascular diseaseInterventional Treatment Those patients with left to right shunt(VSD,PDA,ASD,et)whose shunts have become partially or totally right to left as a result of the development of pulmonary vascular disease 所有左向右分流的先天性心脏病（所有左向右分流的先天性心脏病
48、（ASD、VSD、PDA 等）由等）由于器质性肺血管病变导致梗阻性肺动脉高压，右心系统压力于器质性肺血管病变导致梗阻性肺动脉高压，右心系统压力等于或超过左心系统，出现双向或右向左分流等于或超过左心系统，出现双向或右向左分流Eisenmenger syndrome 艾森曼格综合征艾森曼格综合征Tetralogy of Fallot（TOF）Pathophysiologyv Obstruction to right ventricular outflow tract(infundibular stenosis)-the most important malformation(sometimes w
49、ith pulmonary valve and artery stenosis)v Ventricular septal defect large and nonrestrictive VSD just below the aortic valvev O v e r r i d e o f t h e a o r t a(dextroposition of the aorta in 25%patients)v Right ventricular hypertrophyPathophysiologyv The degree of right ventricular outflow obstruc
50、tion determines the timing of onset of symptoms,the severity of cyanosis,and the degree of right ventricular hypertrophyv The degree of right ventricular outflow obstruction and override of the aorta can become more and more severe with growth Obstruction to right ventricular outflow tract Spasm of
