Pediatric and Congenital Heart
Disease
Common Problems
ASD,VSD,PDA and TOF
Heart Structure
? Heart is an complex
spatial structure
? Differences in the
pathophysiology of
cardiac disease
– Pediatrics,congenital
heart disease
– Adults,atherosclerotic
heart disease
A word about diagnosis
? Clinical presentation--raising the suspicion
? Image is EVERYTHING
? Mainstay,echocardiography
– echo anatomy and hemodynamics
? Cardiac catheterization
– imaging
– hemodynamics
– intervention
Stages of Heart Formation
1,Early blood vessel formation
1) Intraembryonic blood vessel at 13 days
2) Extraembryonic blood vessels at 17 days
2,Development of heart
1) Position and cardiac tube at 22 days
Heart beating at 26 days,
2) Formation of heart loop at 22-24days
3) Formation of ventricle
4) Development of sinus venosus
3,Formation of cardiac septa,valves,
arterial system,systemic veins
2 weeks formation start
4 weeks circulation start
8 weeks four chamber heart
Incidence of Congenital Heart Diseases
1,Lt to Rt Shunt ( 53 % )
PDA 17 %
ASD 16.5 %
VSD 13 %
AVSD 3.5 %
Abn,PV return 3 %
2,Rt to Lt Shunt (11 % )
TOF 4.5 %
TA 3 %
PA+VSD 2.5 %
PA+IVS 0.5 %
3,Admixture Lesion ( 15 % )
TGA 5 %
Univ,Ht,5 %
Atrial isomerism < 2 %
DORV < 2 %
Truncus 0.8 %
Corrected TGA < 0.5 %
4,Obstructive Lesion ( 15 % )
Coarctation 9.5 %
PS 2 %
MS etc,1.5 %
LVOTO 1.3 %
HLHS 0.9 %
IAA 0.6 %
5,Valvular Lesion
Ebstein < 1 %
AR < 0.5 %
MR < 0.5 %
SV aneurysm < 0.5 %
6,Miscellaneous
Arrhythmia 5 %
Vascular ring 0.5 %
Fetal Circulation
– Parallel circulation
(combined output)
– Ductus Venosus shunts
blood from the UV to the
IVC bypassing the liver
– Foramen Ovale shunts blood
from the RA to the LA
– Ductus Arteriosus shunts
blood from the PA to the
descending aorta bypassing
the lungs
– Blood from the LV perfuses
the heart & brain with well
oxygenated blood
50%
2/3
Fetal Circulation
50%
2/3
A胎儿期 B出生后
由母体循环完成气体
交换
由肺循环完成气体
交换
多为混合血，心、脑、
上半身血氧含量高于
下半身
静脉血和动脉血分
开
卵圆孔、动脉导管、
静脉导管开放
卵圆孔、动脉导管、
静脉导管闭合
肺动脉压与主动脉相
似，肺循环阻力高
肺动脉压下降，肺
循环阻力低
右心室高负荷 左心室高负荷
Transitional Circulation
Dramatic changes in circulation at the
moment of birth and onwards,
– Air breadth - lung expansion - Rp ↓
– Qp ↑ - LA pressure ↑ - PFO ↓
– P O2 ↑ - ductus arteriosus and
venosus ↓
– Obliteration of placental circulation -
Rs ↑
– IVC pressure ↓ - PFO ↓
Foramen Ovale
? Closure occurs in two stages
– Functional closure occurs when LA pressure
higher than RA pressure
? This is reversible in the presence of hypoxemia or
hypovolemia
– Permanent closure occurs in 5-7 months
Foramen Ovale
? Probe Patency
– Is present in 50% of children < 5 years old & in more than
25% of adults
– Is a potential avenue for air emboli to enter the systemic
circulation
– A patent FO may be beneficial in certain heart malformations
– Patients who rely on the patency of the foramen require a
balloon atrial septoplasty
Ductus Arteriosus
? Closure occurs in two stages
– 80% Functional closure occurs 24 hours after
birth
? This is reversible in the presence of hypoxemia or
hypovolemia
– 80% Permanent closure occurs in 3 months
– 95% Permanent closure occurs in 3 months
? Fibrous connective tissue forms & permanently seals the
lumen
– This becomes the ligamentum arteriosum
Persistent Ductus Arteriosus
The PDA in the preterm infant is due to a weak
vasoconstrictor response to O2 and should be
considered a normal not pathologic response
? This PDA may still need surgical correction
? A left to right shunt through the ductus can flood the
lungs of the premature infant prolonging mechanical
ventilation,eventually leading to pulmonary edema &
right sided heart failure
Persistent Ductus Arteriosus
? A PDA may also be beneficial
– In cyanotic congenital heart malformations with right to left &
decreased pulmonary blood flow
? The PDA may be the major route by which the blood reaches
the pulmonary arteries to receive O2
? In this case closure of the DA causes severe cyanosis,tissue
hypoxia & acidemia
? To keep the ductus open prior to palliative or corrective surgery
of the heart malformation,PGE 1 (0.05-0.1mcg/kg/min) can be
administered IV
? To help close the ductus prior to surgical intervention to ligate
the PDA,Indomethacin (0.1-0.2mg/kg) can be administered
– This is an inhibitor of PGE synthesis
Transitional & Neonatal
Circulation
Cardiovascular Differences in the
Infant
? There are gross structural differences & changes in
the heart during infancy
– At birth the right & left ventricles are essentially the same in
size & wall thickness
– During the 1st month volume load & afterload of the LV
increases whereas there is minimal increase in volume load
& decrease in afterload on the RV
? By four weeks the LV weighs more than the RV
? This continues through infancy & early childhood until the LV is
twice as heavy as the RV as it is in the adult
Cardiovascular Parameters
? Parameters are much different for the infant than for
the adult
– Heart rate,higher
? Decreasing to adult levels at ~5 years old
– Cardiac output,higher
? Especially when calculated according to body weight & it
parallels O2 consumption
– Cardiac index,constant
? Because of the infants high ratio of surface area to body weight
– O2 consumption,depends heavily on temperature
? There is a 10-13% increase in O2 consumption for each degree
rise in core temperature
Circulation Variables in Infants
Normal range of systolic pressure=[(age*2） +80]*0.133kPa± 2.67kPa
Hypertension
Hypotension <10.0-10.7kPa (75-80mmHg)
Diastolic Pressure= 2/3 systolic pressure
Diagnostic Tools
? History and physical examination
? Chest X ray / EKG / Blood study
? Echocardiography/ Other imaging tools
? Catheterization/ Other invasive tools
Accuracy of Tools
? History/PE, important,rarely specific
? X-ray/EKG, not-confirmative
? Echocardiography,
confirmative,but non-invasive
? Cardiac catheterization,
confirmative,but invasive
Evaluation of CHD by History Taking
? Family history of defects / early cardiac disease / siblings with
defects
? Maternal history of stillborns or abortion
? Congenital anomalies / genetic anomalies / fetal alcohol
syndrome / Downs Syndrome and Turner Syndrome
? Maternal exposure to rubella Growth and Development
? Signs and Symptoms
– Infants vs,Children/Adolescents
Evaluation of CHD by History Taking
1,Infants
1) Murmur
2) Symptoms of CHF
feeding difficulty
low weight gain,
tachypnea,tachycardia,
sweating,anxiety,
irritability,frequent URI
3) Symptoms of hypoxemia
cyanosis,hypoxic spell
2,Children
1) Murmur
2) Symptoms of CHF
exercise intolerance,
dyspnea on exertion,
frequent URI,
palpitation
3) Syncope,chest pain
4) Symptoms of Hypoxemia
cyanosis,squatting,
hypoxic spell,clubbing
Physical Examination
? Inspection, general appearance,nutrition,syndrome?,facial
morphology,jugular venous pulse,respiratory pattern,rate,
chest retraction,alae nasi flaring,dyspnea,precordial bulging,
cyanosis,clubbing
? Palpation,apical pulse,precordial activity,thrill,arterial
pulse,location and size of liver and spleen
? Auscultation,S1,S2,abnormal sounds,murmur
? Please do not pull out stethoscope before you observe patients carefully
Physical Exam
? Vitals
– HR,BP (including 4 extremities) RR,Pulse Ox
? Respiratory Assessment
– Tachypnea,flaring
– Cyanosis
? Acrocyanosis vs,Central Cyanosis
What make in infant cyanosed?
? mixture of systemic venous and pulmonary
venous blood
? mixture causes ejection of desaturated blood
to the body
? Obstruction to pulmonary blood flow
? obstruction still requires admixture
Physical Exam
? Cardiovascular Exam
– Arterial exam
? Pulses,capillary refill
– Venous exam
? Jugular venous pulse,palpation of liver
– Precordial exam
? Precordial bulge,substernal thrust,apical heave,shift
of apical impulse,thrills
Physical Exam
? Cardiovascular exam (cont’d)
– Auscultation
? Optimal conditions
include supine,quiet
and breathing normally
? Develop a routine of
listening systematically
to all components of the
cardiac cycle and all
auscultatory areas with
bell and diaphragm
? Listen in the 4 principal
areas of the precordium
( i.e.,tricuspid,
pulmonary,mitral and
aortic valves)
Our role as pediatricians
? Attempt to provide a definitive diagnosis of
an innocent cardiac murmur on the basis of
specific clinical features,not just as a
diagnosis of exclusion
? Provide patients and family with an
explanation and reassurance
? Cost effective use of medical resources
Physical Exam
? Ausculatation- The Sounds
– S1
? Closure of the A-V valves
? Single sound in early isovolumic ventricular contraction
? Best heard in tricuspid and mitral areas
Physical Exam
? Auscultation
– S2
? Closure of the semilunar valves
? Physiologic splitting results from increased right heart
filling and decreased left heart filling during inspiration
? Pathologic splitting
Physical Exam
? Auscultation of Murmurs
– Murmurs are audible sound waves resulting from turbulent
blood flow
– Classification of murmurs
? Timing
? Intensity
? Location on chest wall
? Duration
? Configuration
? Quality
? Pitch
Types of Murmurs
? Systolic
– Begin with S1 and end before S2
– Classified as holosystolic,ejection,early and late systolic
? Diastolic
– Occur in the period between closure of semilunar valves
and subsequent closure of A-V valves
– Classified as early,mid and late diastolic
? Continuous
– Not confined to systole or diastole
What do you hear?
Types of Murmurs
? Continuous murmurs
– Begin in systole and extend up to diastole without
interruption
– Result from blood from a higher pressure chamber or vessel
to a lower system with a persistent pressure gradient
between these areas
? PDA
? Left to right shunts
? Venous hum
What do you hear?
Types of Murmurs
? Systolic murmurs
– pansystolic murmurs
? Starts with S1 and extends up to A2/P2
– Mitral regurgitation
– Ventricular septal defect
– Tricuspid regurgitation
Types of Murmurs
? Systolic Murmurs
– Early systolic murmur
? Start with S1 and do not extend to S2
? Decrescendo configuration
– Small muscular VSD
Types of Murmurs
? Systolic Murmurs
– Systolic Ejection Murmurs
? Ejection murmurs (cont’d)
– Valvular,supravalvular or subvalvular aortic stenosis
– Pulmonic stenosis
– Innocent Murmurs
What do you hear?
What do you hear?
Cyanosis
Clubbing of Fingers
Clubbing of Fingers
Whaley & Wong
Knee-chest Position
Child with a cyanotic heart
defect squats (assumes a knee-chest position) to relieve
cyanotic spells,Some times called,tet” spells,Ball &
Bindler
Nurse puts infant in knee-chest
position,Whaley & Wong
Chest X-ray
Heart size,shape,pulmonary vascularity
Chest X-ray
Electrocardiography
Purposes of Imaging
? Anatomic-pathologic diagnosis
? Hemodynamic assessment
(velocity,flow,pressure,stress-strain)
? Volume,function,wall motion,torsion
? Coronary perfusion / Metabolism
? Tissue characterization
Echocardiography
? Easy,non-invasive,accurate,real-time
? Anatomic and physiologic information
? Changed practice of pediatric cardiology
Echocardiography - Modalities
? M-mode / 2-D / 3-D
? Doppler / color Doppler
? Trans-thoracic,trans-esophageal,
trans-abdominal,trans-vaginal,
intra-cardiac,intra-vascular
Echocardiography
Echocardiography
M-mode Echocardiography
3-D Echocardiography
New Development in Echo
? Imaging,edge detection/auto-measurement
? Doppler,3-D flow / stress-strain
? Contrast echo,coronary perfusion
? Fetal Echo,>16 weeks
Purposes of Catheterization
? Anatomic diagnosis
? Hemodynamic assessment
? Interventional procedure
Equipment
? Biplane monitor / Cine with digital subtraction
? Patient monitoring, EKG,BP,pulse oximeter
? Physiologic signal amplifier and recording device
? Blood gas,O2 consumption,Dye/ Thermodilution
? Emergency treatment tools,
? Room for Others, anesthesia,echo,exercise
Catheterization Room
Fluoroscopic Monitor
Physiologic Signal - Display & Recording
Electrophysiologic Study
Other Imaging Tools
? Magnetic Resonance Imaging (MRI)
? CT / Electron-beam CT (EBCT)
? Radionuclide / SPECT
? Positron Emission Tomography
Magnetic Resonance Imaging
Spin echo Gradient echo Velocity encoded
Magnetic Resonance Imaging
? Sectional still image/ cine image/ 3-D
? Flow information / volume flow
? Less window dependant / post-op study,
older age / functional evaluation
Computerized Tomography
Radionuclide Study
Radionuclide Study
Congenital Heart Disease
? In aggregate,congenital heart disease (CHD)
comprises a relatively large percentage of all
malformations,
? The effect on the patient depends on the severity
and type of the malformation,but can range from
lethal to clinically insignificant,
Introduction
? Prevalence,
– All births,1.56 to 7.7/1000
– Stillbirths,1 to 34.5/1000
– Live births,2.0 to 10.2/1000
– Affected by mortality,diagnostic criteria,length
of follow-up,etc,
Etiologic Basis of Congenital Heart Diseases
1,Primary genetic factors (10%)
1) Chromosomal 5-10%
2) Single mutant gene 3%
Recessive
Dominant
2,Genetic-environmental interaction (90%)
1) Multifactorial inheritance,majority
2) Risks to offspring of an affected parent
3) Environmental contribution
Drugs
Infections
Maternal conditions
Potential Cardiovascular Teratogens
1,Drugs
Alcohol
Amphetamines
Anticonvulsants
Chemotherapy
Sex hormone
Thalidomide
2,Infections
Rubella
Coxsakie virus
3,Maternal conditions
Old age
Diabetes
Lupus
Phenylketonuria
4,Others
Fetal Four Chamber View
Classification of Congenital Heart
Disease
? Left to Right Shunt Type（ potential cyanotic type）
ASD VSD PDA
? Right to Left Shunt Type（ cyanotic type）
TOF TGA DORV
? Non－ shunt Type（ Acyanotic type）
PS COA AS
Atrial Septal Defect
? Leornardo da Vinci described
the patent foramen ovale in the
early 1500s,
,I have found a perforating
channel from left auricle to right
auricle”
? In 1875,Karl von Rokitansky
provided a superb account of
pathological anatomy of the
atrial septal defect together with
its embryological basis
? He even distinguished between
primum and secundum defects
Atrial Septum
? Primitive atrium partitions by
growth of septum primum
? Atrial communication
maintained via ostium primum
(OP)
? Before closure of OP
fenestrations develop in
septum primum
? Septum secundum develops
just to the right of septum
primum
? Opening through septum
secundum on the RA side
with a flap valve on the LA
side is the foramen ovale
30 days 33 days
37 days New
born
From Moss,1989
Atrial Septal Defect
? Accounts for 20% of CHD
? Two to three times more common in
women
? May go unrecognized for decades
? Unoperated survival beyond age 40-50
is no more than 50% with a subsequent
increase in mortality at 6% per year
after age 50
Atrial Septal Defect
? Ostium secundum defect
– Most common (60-70%)
– Mid portion of IAS (@ FO site)
– Isolated defect associated with MVP
? Ostium Primum defect
– 15-20% of ASDs
– Inferolateral portion of IAS
– Frequently associated with cleft in
anterior MV leaflet and MR
Atrial Septal Defect
? Sinus Venosus defect
– 5-10% of ASDs
– Superior and posterior in relation to
fossa ovalis
– Almost always associated with
PAPVD into RA or IVC/SVC
? Coronary sinus defect
– <5% of cases
– Located inferior and slightly
anterior to the fossa ovalis
– Commonly associated with other
defects (eg AVSD)
– Also associated with left sided SVC
Atrial Septal Defect
Associated Defect
? Anomalous pulmonary
drainage
? Pulmonary stenosis
? MV cleft
Ventricular Septal Defect
? Henri Roger was the first man to
describe a ventricular septal defect,in
1879 he wrote,
,A developmental defect of the heart
occurs from which cyanosis does not
ensue in spite of the fact that a
communication exists between the cavities
of the two ventricles and in spite of the fact
that the admixture of venous blood and
arterial blood occurs,This congenital
defect,which is even compatible with long
life,is a simple one,It comprises a defect
in the interventricular septum”
Ventricular Septum
? Partitioning begins as
a muscular ridge near
the apex
? Ridge undergoes
active growth which
forms the muscular
septum (inlet,
trabecular,and outlet)
? Concomitantly
endocardial cushions
fuse and the two
regions meet Inlet
Trabecular
Outlet
VSDs
From
Edward,
“Congenital
heart
disease,” in
ANDERSON’
S
PATHOLOG
Y,10th ed.,
Mosby,1996,
pgs 1339-1396,
Ventricular Septal Defect
Ventricular Septal Defect
? Most common CHD in children
(25%)
? Isolated VSD found in only 10% of
adults with CHD
? 75-80% of small VSD’s close
spontaneously by late childhood
? 10-15% of large VSD’s close
spontaneously
? 25-40% of defects close before
age 3-4,and 90% before age 8
? Risk factors for decreased survival
for unoperated patients include,
– Cardiomegaly on CXR,Elevated
PASP (>50 mmHg),and CV
symptoms
Patent Ductus Arteriosus
? 15% of CHD
? risks and history that of the shunt magnitude
? small,restrictive--asymtpomatic,risk of
endocarditis
? moderate to large--heart failure,arterial
“steal”
Patent ductus arteriosus
Patent Ductus Arteriosis
Tetralogy of Fallot
? R-to-L shunts,CYANOSIS in 1year after birth (or
diagnosis if tetralogy of Fallot),prevalence 10% of
CHD
? Basic abnormality is malalignment of the outflow
(infundibular) portion of the ventricular septum
? Tetrad,
– malalignment of outlet septum--VSD
– aortic over ride
– pulmonary outflow tract stenosis
– right ventricular hypertrophy
Embryology of Tetralogy of Fallot
Pathology of Tetralogy of Fallot
Infundibular deviated
to anterior,superior and
left
Pathology of Tetralogy of Fallot
? RVOTO
1,50％ RVOTO
2,20%－ 50％ PS
3,Superior pulmonary valve stenosis or peripheral
pulmonary stenosis or absent left pulmonary
artery
4,Asssociated heart malformation
40％ inner heart malformation
20％ － 30％ out heart malformation
20% right sided aortic arch
Tetralogy of Fallot
Tetralogy of Fallot
? Degree of the right to left
shunt is related to the
degree of right ventricular
outflow obstruction,
– Outflow tract stenosis
becomes worse with
growth,
? Pulmonary hypertension is
not a problem,but infective
endocarditis and
“paradoxical emboli”
(including brain abscesses)
are potential complications,
Tetralogy of Fallot
? presentation typically in infancy
– murmur--present from initial assessment
– cyanosis if outflow obstruction is severe
– range of presentation a reflection of the variability
of outflow obstruction
– most critical obstructive lesion--pulmonary atresia
may be associated with hypoplasia of the
pulmonary arteries
Hypoxic spell
?Occur at 2m－ 9m
A paroxysm of hyperpnea (rapid and deep
respiration)
increasing cyanosis
decreased intensity of the heart murmur
Mechanism of tet spell
cyanosis ? RVOT contract R?Lshunt?
hyperpnea Sat%? Venous return?
R?Lshunt?
hyperpnea
TOF PD
A
VS
D
AS
D
常见先天性心脏病
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Discussion for ASD,VSD,PDA,TOF
? Clinical Features
? Physical Examination
? EKG
? Chest X-ray
? Treatment
Case study 30’
TOF PDA VSD ASD
Atrial Septal Defect -Clinical Features
? Present late
Left – right shunt,amount based on defect
size and compliance of pulmonary and systemic circulation
– At birth right ventrical is thick,thins out and
pulmonary resistance decreases,increase in
shunt
? Right ventricular volume overload
Subtle failure to thrive,fatigue
? Prominent pulmonary flow
Recurrent pulmonary infections
? Insufficient systemic flow
poor development,thin,sweating and failure
to thrive
? Potential cyanotic
crying,pneumonia,CHF
Atrial Septal Defect
? On examination may detect RV impulse
? May also detect a palpable P2 (dilated pulmonary trunk)
? S1 is normal but there is a fixed split S2
? Flow across the ASD does not produce a murmur
? A soft SEM is often audible in 2nd LICS secondary to rapid ejection
of a large RV stroke volume into a dilated PA
? A murmur >grade 3/6 often means that a large shunt is present or
there is an associated PS present
? There may be a mid-diastolic rumble from increased flow through
TV
? When RV failure ensues PSM of TR is heard
EKG
1) Right axis deviation
RVH
2) IRBBB rsR’
RVH
3) Prolong P-R period
crest hypertrophy,RV dilation
EKG
4)High P wave
RA enlargement
5)Left axis deviation
Ostium Primum defect
ASD-CXR
Cardiomegaly
Pulmonary plethora
RV enlargement
Prominent PA
Echocardiography
1) Dilated RA, RV，
RVOT
Right heart volume
overload
2) Flat ventricular
septum
3) ASD sign
Echocardiography
? Dilated RA, RV，
RVOT
? Right heart
volume overload
? Flat ventricular
septum
? ASD sign
Catheterization
1)When？
a) Clinical outcome not
match the diagnosis
b) Suspicions of pulmonary
hypertension
2)To measure,
a) Oxygen Saturation
RA>IVC,SVC
b) amount of Shunt
c) Pulmonary pressure and
resistance
Clinical course and treatment
? Well tolerated in childhood,symptoms
may appear after 2nd decade,
eventual pulmonary hypertension,
atrial dysrythmia,and tricuspid
insufficiency,
– Heart failure
? Treatment,Surgical correction at 2-6
years for all symptomatic patients and
asymptomatic patients with
pulmonary blood flow 2X systemic
eventual pulmonary hypertension,
atrial dysrythmia,and tricuspid
insufficiency,
– Operate earlier if with prominent
symptom or with CHF
Interventional catheterization
?Indication
1)Defect size <3-3.5cm
2)Enough surrounding septal tissue
3)Body weight >8kg
?Device
1) Sideris
2) Cardio Seal
3) Amplazer
Pre-intervention
Pre-intervention
Pre-intervention
During intervention
During intervention
During intervention
During intervention
During intervention
During intervention
ASD-Device
Ventricular Septal Defect
? Arterial pulse is often normal
? There may be a systolic thrill on palpation of the
precordium (maximal in 3rd or 4th ICS)
? Pansystolic,high frequency murmur (grade 4-6/6)
with small VSD and normal PAP
? Once PAP increases above the systemic pressures
the holosystolic murmur disappears
? Increase flow across pulmonary valve causes a SEM
? A loud P2 component is heard in this setting
VSD
? Clinical severity grading,
– Small,Causes negligible Hemodynamic changes,LV size normal
w/o PHTN
– Moderate,Causes LV and LA enlargement,and usually some
PHTN (reversible)
– Large,Results in pulmonary vascular obstructive disease and
Eisenmenger physiology unless there is coexistent RVOTO
? Pathologic and surgical classification,
– Perimembranous,bordered by fibrous continuity of an AV valve
and an arterial valve,usually with inlet or outlet extension
– Muscular,bordered by muscular rim,usually trabecular
– Doubly committed,bordered by fibrous continuity of both the aortic
and pulmonary valves
ECG in VSD
? May be normal but often shows LVH and LAE
? Presence of RAD represents elevated RVP and PAP
? Postoperative RBBB is common
CXR in VSD
? Cardiomegaly with LAE and
LVE will be seen with large L to
R shunts
? A large defect associated with a
small heart and oligemic lung
fields should raise the suspicion
of pulmonary vascular disease
Echo in VSD
LV RV
VSD
VSD Repair
? When repair is performed in the first two years of life,
asymptomatic adult survival with normal growth and
development can be anticipated
? When surgery is undertaken in older children,a late
postopeartive increase in LV chamber size,together
with decreased systolic function is seen
? Development of late postoperative PHTN is largely
determined by the age at surgery and preoperative
PVR
? Risk of SBE persists and requires prophylaxis
VSD Treatment
? if symptomatic,or signs of significant shunt
? medical therapy with digoxin and diuretics
? surgical closure indications
– patch closure,using cardio-pulmonary bypass
– persistent large shunt,CHF and growth failure
– persistent cardiomegaly by echo or catheterization
? outcome following surgery excellent
? often undertaken in infancy if patients with
pulmonary blood flow 2X systemic eventual
pulmonary hypertension
Patent ductus arteriosus
? Amount and direction of
shunt
size of ductus
gradient between Ao and
PA
? Left ventricular volume
overload
Pathophysiology (PDA)
? Pulmonary
hypertension
homodynamic
Eisenmenger’s
Pathophysiology (PDA)
? Eisenmenger’s syndrome
? Rv systolic pressure overload
RVH,RVF
? Differential cyanosis
mild cyanosis of left arm
pink Right arm
cyanosis in the lower half of
body
Physical Examination
? Auscultation,
(1) Continuous machinery
murmur at 2nd-3rd left
intercostal space
-systolic murmur,PH,CHF
or in infants
(2) Diastolic murmur at apex
- functional MS
(3) Loud P2
(4) Bounding peripheral pulse
with wide pulse pressure
Clinical manifestations in infants
? Auscultation,
(1) Only systolic murmur
(2) No Diastolic murmur
EKG
1) LVH
2) LA enlargements
3) BVH
4) RVH
Chest X-Ray
1)LA,LV enlargment
Volume overload
2) Pulmonary plethora,
Prominent PA
3)CHF
Echocardiography
Echocardiography
Catheterization
1)Indications,
a) suspicions of associated
abnormality
b) suspicions of PH
2)Evaluation,
a) saturation
MPA>RV
b) amounts of shunt
c) PA pressure and
resistant
d) Angiography
Prognosis and complication
? Common complication
Endocarditis
CHF
Infection arteritis
? Seldom see complication
1)PA,PDA aneurysm
2)calsification and
thrombus of PDA
Treatment
? Conventional operation indication
Treatment as soon as possible
Prevent Endocarditis,CHF and PH
? Treatment of premature infants with PDA
anti-CHF
indomethacin （ in 1 week） 90％
Treatment
? Operation
? Interventional therapy
Coil
Amplazer
Lock
Rashkind
TOF-Physical examination
(1) SEM at lower LSB
RVOTO
(2)SEEM at apex
(3) S2 single,P2 ?
(4) tet spell
(5) squatting
EKG
1) RVH
2) RAE
BVE
RVH
Chest X-ray
1)No cardiomegaly
2)Boot-shaped heart
3)Decreased pulmonary
vascular marking
4)Dilated ascending
aorta
5)Colleterol vassal
6)Right aortic arch
Echocardiography
? RVOT,PV,main and
branch PA stenosis
? Big maliagment VSD
? Overriding of Aorta
? RVH
Catheterization
1)Indications,
a) suspicious of accompany
malformation
b) CA not visible
2)Evaluation
a) Visualize RVOT,PV,main
and branch PA stenosis
b) Visualize CA
Catheterization
a) RV pressure,type of
RVOTO
b) PLV=PRV
c) Overriding Aorta
d) Aorta desaturation
Prognosis and complications
? Complications
(1)Thrombosis
stroke
brain abscess
(2)Endocarditis
RVOT PV AV
Treatment
?Indication
Severity of RVOTO
?Newborn with TOF
anti-acidosis,PEG
Systolic to pulmonary shunt
阵发性缺氧发作（ anoxic spell）
? 常见于婴儿
? 诱因：吃奶、哭闹、贫血、感染等
? 产生机制：肺动脉漏斗部一过性痉挛梗阻，导致脑缺氧
? 表现：阵发性呼吸困难、晕厥、抽搐甚至死亡
? 处理,
① 胸膝位
② 吸氧
③ 新福林 0.05mg/kg或心得安 0.1mg/kg静注
④ 5%碳酸氢钠 1.5~5.0ml/kg静注
⑤ 吗啡 0.1~0.2mg/kg皮下注射
? 预防：心得安 1~3mg/kg/d口服
Operation for TOF
Treatment
?Complete correction
6m－ 12m PA GA
?Postoperative complication
CHF
AV block
residual shunt
Tetralogy of Fallot-therapy and
outcome
? establish pulmonary blood flow
– critically blue infant--
prostaglandin
? palliation-Blalock Taussig
shunt
– connects aorta to pulmonary
artery
常见先心病鉴别诊断
先天性心脏病鉴别诊断思维程序
肺动脉瓣狭窄
肺动脉瓣狭窄
? 肺动脉瓣狭窄
（ pul-monary
stenosis PS）约占
先天性心脏病 10%
? 约 20%合并其它畸
形
PS病理解剖
? 典型 PS
? 肺动脉瓣叶融合形成畸形
? 瓣环完整
? 肺动脉干呈狭窄后扩张
? 发育不良型 PS
? 肺动脉瓣叶不规则畸形
? 瓣环发育不良
? 肺动脉干不扩张或发育不
良
? Noonan综合症常合并此
畸形
PS临床表现
? 症状
? 轻者无症状
? 狭窄严重者有劳累后气促、乏力、晕厥甚至猝死
? 右心衰表现
? 体征
? 望：心前区隆起，心尖搏动明显
? 触：扪及收缩期震颤
? 听：胸骨左缘上部可闻及 Ⅴ/Ⅵ 级响亮的喷射性收缩期杂音，伴传导；
S2分裂； P2减弱
PS辅助检查
? X线表现
? 轻者心影不大
? 重度狭窄右心增大
? 肺动脉呈狭窄后扩张，左肺动脉段可凸出
? 心电图
? 右房扩大，右室肥大伴劳损改变
? 超声心动图
? 估测肺动脉狭窄程度
? 心导管和心血管造影
? 右心室造影见“射流征”和肺动脉狭窄后
扩张
增厚的肺动脉瓣
经狭窄的肺动脉瓣
处流速增快
PS治疗
? 严重狭窄：右室收缩压 >左室收缩压
? 球囊瓣膜成形术：首选方法
? 外科瓣膜切开术
? 轻度狭窄：右室收缩压 >左室收缩压
? 随访
? 右室收缩压 >50mmHg时，狭窄解除术
返回
完全性大动脉转位
完全性大动脉转位
? 完全性大动脉转位（ complete transposition of the
great arteries c-TGA）占先天性心脏病的 5~7%
? 新生儿期最常见的紫绀型心脏病
? 紫绀型心脏病第二位
? 男女患病率约 2~4:1
? 未经治疗 90%在 1岁内死亡
c-TGA病理解剖
?正常,
?肺动脉位于左前上方
?肺动脉 -右心室
?主动脉位于右后下方
?主动脉 -左心室
?C-TGA,
?肺动脉位于左后下方
?肺动脉 -左心室
?主动脉位于右前上方
?主动脉 -左心室
正常 C-TGA
c-TGA血液循环途径
左心房
肺分支血管 左心室
肺动脉
肺静脉
肺循环
右心房
体循环分支 右心室
主动脉
腔静脉
体循环
左心房
肺分支血管 左心室
肺动脉
肺静脉 右心房
体循环分支 右心室
主动脉
腔静脉
正常途径
? C-TGA时肺循环和体循环
并行，心内或心外的分流是婴
儿存活的必要条件！
c-TGA临床表现
? 青紫：早期出现
? 充血性心衰表现
? 发育不良
? 早期出现杵状指（趾）
? 听诊
? S2增强
? 相应畸形的杂音
c-TGA辅助检查
? X线表现
? 肺动脉段凹陷，心蒂小，呈”蛋形心”
? 心影进行性增大
? 肺纹理取决于分流大小和肺动脉是否狭窄
? 心电图
? 电轴右偏，右室肥大
? 合并房室通道时电轴可左偏，双室肥大
? 超声心电图
? 心室大动脉连接不一致
? 心导管检查和心血管造影
C-TGA治疗
? 纠正低氧血症和代谢性酸中毒
? 姑息手术
? 球囊房隔成形术（ Rashkind procedure）
? 肺动脉环缩术
? 根治性手术
? 生理纠治术（ senning或 Mustard术）
? 解剖纠正术（ switch术）
A 球囊房隔成形术
B 解剖纠正术
A
B
返回
疑似心脏病
无紫绀 有紫绀
胸片 体检
肺充血 (＋ )
ECG
左
室
大
右
室
大
ECG
左
室
大
右
室
大
胸片 体检
肺充血 (＋ )
ECG
左
室
大
右
室
大
ECG
左
室
大
右
室
大
肺充血 (－ ) 肺充血 (－ )
VSD ASD AS PS TAPVC TGA/VSD TOF TA
常用先天性心脏病鉴别诊断
返回
孙锟
上海第二医科大学附属新华医院
上海儿童医学中心
上海市东方路 1678号
邮编 200127
电话,58732020-6008
传真,58393915
Sunkun@sh163.net
Welcome you to SCMC
Disease
Common Problems
ASD,VSD,PDA and TOF
Heart Structure
? Heart is an complex
spatial structure
? Differences in the
pathophysiology of
cardiac disease
– Pediatrics,congenital
heart disease
– Adults,atherosclerotic
heart disease
A word about diagnosis
? Clinical presentation--raising the suspicion
? Image is EVERYTHING
? Mainstay,echocardiography
– echo anatomy and hemodynamics
? Cardiac catheterization
– imaging
– hemodynamics
– intervention
Stages of Heart Formation
1,Early blood vessel formation
1) Intraembryonic blood vessel at 13 days
2) Extraembryonic blood vessels at 17 days
2,Development of heart
1) Position and cardiac tube at 22 days
Heart beating at 26 days,
2) Formation of heart loop at 22-24days
3) Formation of ventricle
4) Development of sinus venosus
3,Formation of cardiac septa,valves,
arterial system,systemic veins
2 weeks formation start
4 weeks circulation start
8 weeks four chamber heart
Incidence of Congenital Heart Diseases
1,Lt to Rt Shunt ( 53 % )
PDA 17 %
ASD 16.5 %
VSD 13 %
AVSD 3.5 %
Abn,PV return 3 %
2,Rt to Lt Shunt (11 % )
TOF 4.5 %
TA 3 %
PA+VSD 2.5 %
PA+IVS 0.5 %
3,Admixture Lesion ( 15 % )
TGA 5 %
Univ,Ht,5 %
Atrial isomerism < 2 %
DORV < 2 %
Truncus 0.8 %
Corrected TGA < 0.5 %
4,Obstructive Lesion ( 15 % )
Coarctation 9.5 %
PS 2 %
MS etc,1.5 %
LVOTO 1.3 %
HLHS 0.9 %
IAA 0.6 %
5,Valvular Lesion
Ebstein < 1 %
AR < 0.5 %
MR < 0.5 %
SV aneurysm < 0.5 %
6,Miscellaneous
Arrhythmia 5 %
Vascular ring 0.5 %
Fetal Circulation
– Parallel circulation
(combined output)
– Ductus Venosus shunts
blood from the UV to the
IVC bypassing the liver
– Foramen Ovale shunts blood
from the RA to the LA
– Ductus Arteriosus shunts
blood from the PA to the
descending aorta bypassing
the lungs
– Blood from the LV perfuses
the heart & brain with well
oxygenated blood
50%
2/3
Fetal Circulation
50%
2/3
A胎儿期 B出生后
由母体循环完成气体
交换
由肺循环完成气体
交换
多为混合血，心、脑、
上半身血氧含量高于
下半身
静脉血和动脉血分
开
卵圆孔、动脉导管、
静脉导管开放
卵圆孔、动脉导管、
静脉导管闭合
肺动脉压与主动脉相
似，肺循环阻力高
肺动脉压下降，肺
循环阻力低
右心室高负荷 左心室高负荷
Transitional Circulation
Dramatic changes in circulation at the
moment of birth and onwards,
– Air breadth - lung expansion - Rp ↓
– Qp ↑ - LA pressure ↑ - PFO ↓
– P O2 ↑ - ductus arteriosus and
venosus ↓
– Obliteration of placental circulation -
Rs ↑
– IVC pressure ↓ - PFO ↓
Foramen Ovale
? Closure occurs in two stages
– Functional closure occurs when LA pressure
higher than RA pressure
? This is reversible in the presence of hypoxemia or
hypovolemia
– Permanent closure occurs in 5-7 months
Foramen Ovale
? Probe Patency
– Is present in 50% of children < 5 years old & in more than
25% of adults
– Is a potential avenue for air emboli to enter the systemic
circulation
– A patent FO may be beneficial in certain heart malformations
– Patients who rely on the patency of the foramen require a
balloon atrial septoplasty
Ductus Arteriosus
? Closure occurs in two stages
– 80% Functional closure occurs 24 hours after
birth
? This is reversible in the presence of hypoxemia or
hypovolemia
– 80% Permanent closure occurs in 3 months
– 95% Permanent closure occurs in 3 months
? Fibrous connective tissue forms & permanently seals the
lumen
– This becomes the ligamentum arteriosum
Persistent Ductus Arteriosus
The PDA in the preterm infant is due to a weak
vasoconstrictor response to O2 and should be
considered a normal not pathologic response
? This PDA may still need surgical correction
? A left to right shunt through the ductus can flood the
lungs of the premature infant prolonging mechanical
ventilation,eventually leading to pulmonary edema &
right sided heart failure
Persistent Ductus Arteriosus
? A PDA may also be beneficial
– In cyanotic congenital heart malformations with right to left &
decreased pulmonary blood flow
? The PDA may be the major route by which the blood reaches
the pulmonary arteries to receive O2
? In this case closure of the DA causes severe cyanosis,tissue
hypoxia & acidemia
? To keep the ductus open prior to palliative or corrective surgery
of the heart malformation,PGE 1 (0.05-0.1mcg/kg/min) can be
administered IV
? To help close the ductus prior to surgical intervention to ligate
the PDA,Indomethacin (0.1-0.2mg/kg) can be administered
– This is an inhibitor of PGE synthesis
Transitional & Neonatal
Circulation
Cardiovascular Differences in the
Infant
? There are gross structural differences & changes in
the heart during infancy
– At birth the right & left ventricles are essentially the same in
size & wall thickness
– During the 1st month volume load & afterload of the LV
increases whereas there is minimal increase in volume load
& decrease in afterload on the RV
? By four weeks the LV weighs more than the RV
? This continues through infancy & early childhood until the LV is
twice as heavy as the RV as it is in the adult
Cardiovascular Parameters
? Parameters are much different for the infant than for
the adult
– Heart rate,higher
? Decreasing to adult levels at ~5 years old
– Cardiac output,higher
? Especially when calculated according to body weight & it
parallels O2 consumption
– Cardiac index,constant
? Because of the infants high ratio of surface area to body weight
– O2 consumption,depends heavily on temperature
? There is a 10-13% increase in O2 consumption for each degree
rise in core temperature
Circulation Variables in Infants
Normal range of systolic pressure=[(age*2） +80]*0.133kPa± 2.67kPa
Hypertension
Hypotension <10.0-10.7kPa (75-80mmHg)
Diastolic Pressure= 2/3 systolic pressure
Diagnostic Tools
? History and physical examination
? Chest X ray / EKG / Blood study
? Echocardiography/ Other imaging tools
? Catheterization/ Other invasive tools
Accuracy of Tools
? History/PE, important,rarely specific
? X-ray/EKG, not-confirmative
? Echocardiography,
confirmative,but non-invasive
? Cardiac catheterization,
confirmative,but invasive
Evaluation of CHD by History Taking
? Family history of defects / early cardiac disease / siblings with
defects
? Maternal history of stillborns or abortion
? Congenital anomalies / genetic anomalies / fetal alcohol
syndrome / Downs Syndrome and Turner Syndrome
? Maternal exposure to rubella Growth and Development
? Signs and Symptoms
– Infants vs,Children/Adolescents
Evaluation of CHD by History Taking
1,Infants
1) Murmur
2) Symptoms of CHF
feeding difficulty
low weight gain,
tachypnea,tachycardia,
sweating,anxiety,
irritability,frequent URI
3) Symptoms of hypoxemia
cyanosis,hypoxic spell
2,Children
1) Murmur
2) Symptoms of CHF
exercise intolerance,
dyspnea on exertion,
frequent URI,
palpitation
3) Syncope,chest pain
4) Symptoms of Hypoxemia
cyanosis,squatting,
hypoxic spell,clubbing
Physical Examination
? Inspection, general appearance,nutrition,syndrome?,facial
morphology,jugular venous pulse,respiratory pattern,rate,
chest retraction,alae nasi flaring,dyspnea,precordial bulging,
cyanosis,clubbing
? Palpation,apical pulse,precordial activity,thrill,arterial
pulse,location and size of liver and spleen
? Auscultation,S1,S2,abnormal sounds,murmur
? Please do not pull out stethoscope before you observe patients carefully
Physical Exam
? Vitals
– HR,BP (including 4 extremities) RR,Pulse Ox
? Respiratory Assessment
– Tachypnea,flaring
– Cyanosis
? Acrocyanosis vs,Central Cyanosis
What make in infant cyanosed?
? mixture of systemic venous and pulmonary
venous blood
? mixture causes ejection of desaturated blood
to the body
? Obstruction to pulmonary blood flow
? obstruction still requires admixture
Physical Exam
? Cardiovascular Exam
– Arterial exam
? Pulses,capillary refill
– Venous exam
? Jugular venous pulse,palpation of liver
– Precordial exam
? Precordial bulge,substernal thrust,apical heave,shift
of apical impulse,thrills
Physical Exam
? Cardiovascular exam (cont’d)
– Auscultation
? Optimal conditions
include supine,quiet
and breathing normally
? Develop a routine of
listening systematically
to all components of the
cardiac cycle and all
auscultatory areas with
bell and diaphragm
? Listen in the 4 principal
areas of the precordium
( i.e.,tricuspid,
pulmonary,mitral and
aortic valves)
Our role as pediatricians
? Attempt to provide a definitive diagnosis of
an innocent cardiac murmur on the basis of
specific clinical features,not just as a
diagnosis of exclusion
? Provide patients and family with an
explanation and reassurance
? Cost effective use of medical resources
Physical Exam
? Ausculatation- The Sounds
– S1
? Closure of the A-V valves
? Single sound in early isovolumic ventricular contraction
? Best heard in tricuspid and mitral areas
Physical Exam
? Auscultation
– S2
? Closure of the semilunar valves
? Physiologic splitting results from increased right heart
filling and decreased left heart filling during inspiration
? Pathologic splitting
Physical Exam
? Auscultation of Murmurs
– Murmurs are audible sound waves resulting from turbulent
blood flow
– Classification of murmurs
? Timing
? Intensity
? Location on chest wall
? Duration
? Configuration
? Quality
? Pitch
Types of Murmurs
? Systolic
– Begin with S1 and end before S2
– Classified as holosystolic,ejection,early and late systolic
? Diastolic
– Occur in the period between closure of semilunar valves
and subsequent closure of A-V valves
– Classified as early,mid and late diastolic
? Continuous
– Not confined to systole or diastole
What do you hear?
Types of Murmurs
? Continuous murmurs
– Begin in systole and extend up to diastole without
interruption
– Result from blood from a higher pressure chamber or vessel
to a lower system with a persistent pressure gradient
between these areas
? PDA
? Left to right shunts
? Venous hum
What do you hear?
Types of Murmurs
? Systolic murmurs
– pansystolic murmurs
? Starts with S1 and extends up to A2/P2
– Mitral regurgitation
– Ventricular septal defect
– Tricuspid regurgitation
Types of Murmurs
? Systolic Murmurs
– Early systolic murmur
? Start with S1 and do not extend to S2
? Decrescendo configuration
– Small muscular VSD
Types of Murmurs
? Systolic Murmurs
– Systolic Ejection Murmurs
? Ejection murmurs (cont’d)
– Valvular,supravalvular or subvalvular aortic stenosis
– Pulmonic stenosis
– Innocent Murmurs
What do you hear?
What do you hear?
Cyanosis
Clubbing of Fingers
Clubbing of Fingers
Whaley & Wong
Knee-chest Position
Child with a cyanotic heart
defect squats (assumes a knee-chest position) to relieve
cyanotic spells,Some times called,tet” spells,Ball &
Bindler
Nurse puts infant in knee-chest
position,Whaley & Wong
Chest X-ray
Heart size,shape,pulmonary vascularity
Chest X-ray
Electrocardiography
Purposes of Imaging
? Anatomic-pathologic diagnosis
? Hemodynamic assessment
(velocity,flow,pressure,stress-strain)
? Volume,function,wall motion,torsion
? Coronary perfusion / Metabolism
? Tissue characterization
Echocardiography
? Easy,non-invasive,accurate,real-time
? Anatomic and physiologic information
? Changed practice of pediatric cardiology
Echocardiography - Modalities
? M-mode / 2-D / 3-D
? Doppler / color Doppler
? Trans-thoracic,trans-esophageal,
trans-abdominal,trans-vaginal,
intra-cardiac,intra-vascular
Echocardiography
Echocardiography
M-mode Echocardiography
3-D Echocardiography
New Development in Echo
? Imaging,edge detection/auto-measurement
? Doppler,3-D flow / stress-strain
? Contrast echo,coronary perfusion
? Fetal Echo,>16 weeks
Purposes of Catheterization
? Anatomic diagnosis
? Hemodynamic assessment
? Interventional procedure
Equipment
? Biplane monitor / Cine with digital subtraction
? Patient monitoring, EKG,BP,pulse oximeter
? Physiologic signal amplifier and recording device
? Blood gas,O2 consumption,Dye/ Thermodilution
? Emergency treatment tools,
? Room for Others, anesthesia,echo,exercise
Catheterization Room
Fluoroscopic Monitor
Physiologic Signal - Display & Recording
Electrophysiologic Study
Other Imaging Tools
? Magnetic Resonance Imaging (MRI)
? CT / Electron-beam CT (EBCT)
? Radionuclide / SPECT
? Positron Emission Tomography
Magnetic Resonance Imaging
Spin echo Gradient echo Velocity encoded
Magnetic Resonance Imaging
? Sectional still image/ cine image/ 3-D
? Flow information / volume flow
? Less window dependant / post-op study,
older age / functional evaluation
Computerized Tomography
Radionuclide Study
Radionuclide Study
Congenital Heart Disease
? In aggregate,congenital heart disease (CHD)
comprises a relatively large percentage of all
malformations,
? The effect on the patient depends on the severity
and type of the malformation,but can range from
lethal to clinically insignificant,
Introduction
? Prevalence,
– All births,1.56 to 7.7/1000
– Stillbirths,1 to 34.5/1000
– Live births,2.0 to 10.2/1000
– Affected by mortality,diagnostic criteria,length
of follow-up,etc,
Etiologic Basis of Congenital Heart Diseases
1,Primary genetic factors (10%)
1) Chromosomal 5-10%
2) Single mutant gene 3%
Recessive
Dominant
2,Genetic-environmental interaction (90%)
1) Multifactorial inheritance,majority
2) Risks to offspring of an affected parent
3) Environmental contribution
Drugs
Infections
Maternal conditions
Potential Cardiovascular Teratogens
1,Drugs
Alcohol
Amphetamines
Anticonvulsants
Chemotherapy
Sex hormone
Thalidomide
2,Infections
Rubella
Coxsakie virus
3,Maternal conditions
Old age
Diabetes
Lupus
Phenylketonuria
4,Others
Fetal Four Chamber View
Classification of Congenital Heart
Disease
? Left to Right Shunt Type（ potential cyanotic type）
ASD VSD PDA
? Right to Left Shunt Type（ cyanotic type）
TOF TGA DORV
? Non－ shunt Type（ Acyanotic type）
PS COA AS
Atrial Septal Defect
? Leornardo da Vinci described
the patent foramen ovale in the
early 1500s,
,I have found a perforating
channel from left auricle to right
auricle”
? In 1875,Karl von Rokitansky
provided a superb account of
pathological anatomy of the
atrial septal defect together with
its embryological basis
? He even distinguished between
primum and secundum defects
Atrial Septum
? Primitive atrium partitions by
growth of septum primum
? Atrial communication
maintained via ostium primum
(OP)
? Before closure of OP
fenestrations develop in
septum primum
? Septum secundum develops
just to the right of septum
primum
? Opening through septum
secundum on the RA side
with a flap valve on the LA
side is the foramen ovale
30 days 33 days
37 days New
born
From Moss,1989
Atrial Septal Defect
? Accounts for 20% of CHD
? Two to three times more common in
women
? May go unrecognized for decades
? Unoperated survival beyond age 40-50
is no more than 50% with a subsequent
increase in mortality at 6% per year
after age 50
Atrial Septal Defect
? Ostium secundum defect
– Most common (60-70%)
– Mid portion of IAS (@ FO site)
– Isolated defect associated with MVP
? Ostium Primum defect
– 15-20% of ASDs
– Inferolateral portion of IAS
– Frequently associated with cleft in
anterior MV leaflet and MR
Atrial Septal Defect
? Sinus Venosus defect
– 5-10% of ASDs
– Superior and posterior in relation to
fossa ovalis
– Almost always associated with
PAPVD into RA or IVC/SVC
? Coronary sinus defect
– <5% of cases
– Located inferior and slightly
anterior to the fossa ovalis
– Commonly associated with other
defects (eg AVSD)
– Also associated with left sided SVC
Atrial Septal Defect
Associated Defect
? Anomalous pulmonary
drainage
? Pulmonary stenosis
? MV cleft
Ventricular Septal Defect
? Henri Roger was the first man to
describe a ventricular septal defect,in
1879 he wrote,
,A developmental defect of the heart
occurs from which cyanosis does not
ensue in spite of the fact that a
communication exists between the cavities
of the two ventricles and in spite of the fact
that the admixture of venous blood and
arterial blood occurs,This congenital
defect,which is even compatible with long
life,is a simple one,It comprises a defect
in the interventricular septum”
Ventricular Septum
? Partitioning begins as
a muscular ridge near
the apex
? Ridge undergoes
active growth which
forms the muscular
septum (inlet,
trabecular,and outlet)
? Concomitantly
endocardial cushions
fuse and the two
regions meet Inlet
Trabecular
Outlet
VSDs
From
Edward,
“Congenital
heart
disease,” in
ANDERSON’
S
PATHOLOG
Y,10th ed.,
Mosby,1996,
pgs 1339-1396,
Ventricular Septal Defect
Ventricular Septal Defect
? Most common CHD in children
(25%)
? Isolated VSD found in only 10% of
adults with CHD
? 75-80% of small VSD’s close
spontaneously by late childhood
? 10-15% of large VSD’s close
spontaneously
? 25-40% of defects close before
age 3-4,and 90% before age 8
? Risk factors for decreased survival
for unoperated patients include,
– Cardiomegaly on CXR,Elevated
PASP (>50 mmHg),and CV
symptoms
Patent Ductus Arteriosus
? 15% of CHD
? risks and history that of the shunt magnitude
? small,restrictive--asymtpomatic,risk of
endocarditis
? moderate to large--heart failure,arterial
“steal”
Patent ductus arteriosus
Patent Ductus Arteriosis
Tetralogy of Fallot
? R-to-L shunts,CYANOSIS in 1year after birth (or
diagnosis if tetralogy of Fallot),prevalence 10% of
CHD
? Basic abnormality is malalignment of the outflow
(infundibular) portion of the ventricular septum
? Tetrad,
– malalignment of outlet septum--VSD
– aortic over ride
– pulmonary outflow tract stenosis
– right ventricular hypertrophy
Embryology of Tetralogy of Fallot
Pathology of Tetralogy of Fallot
Infundibular deviated
to anterior,superior and
left
Pathology of Tetralogy of Fallot
? RVOTO
1,50％ RVOTO
2,20%－ 50％ PS
3,Superior pulmonary valve stenosis or peripheral
pulmonary stenosis or absent left pulmonary
artery
4,Asssociated heart malformation
40％ inner heart malformation
20％ － 30％ out heart malformation
20% right sided aortic arch
Tetralogy of Fallot
Tetralogy of Fallot
? Degree of the right to left
shunt is related to the
degree of right ventricular
outflow obstruction,
– Outflow tract stenosis
becomes worse with
growth,
? Pulmonary hypertension is
not a problem,but infective
endocarditis and
“paradoxical emboli”
(including brain abscesses)
are potential complications,
Tetralogy of Fallot
? presentation typically in infancy
– murmur--present from initial assessment
– cyanosis if outflow obstruction is severe
– range of presentation a reflection of the variability
of outflow obstruction
– most critical obstructive lesion--pulmonary atresia
may be associated with hypoplasia of the
pulmonary arteries
Hypoxic spell
?Occur at 2m－ 9m
A paroxysm of hyperpnea (rapid and deep
respiration)
increasing cyanosis
decreased intensity of the heart murmur
Mechanism of tet spell
cyanosis ? RVOT contract R?Lshunt?
hyperpnea Sat%? Venous return?
R?Lshunt?
hyperpnea
TOF PD
A
VS
D
AS
D
常见先天性心脏病
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Discussion for ASD,VSD,PDA,TOF
? Clinical Features
? Physical Examination
? EKG
? Chest X-ray
? Treatment
Case study 30’
TOF PDA VSD ASD
Atrial Septal Defect -Clinical Features
? Present late
Left – right shunt,amount based on defect
size and compliance of pulmonary and systemic circulation
– At birth right ventrical is thick,thins out and
pulmonary resistance decreases,increase in
shunt
? Right ventricular volume overload
Subtle failure to thrive,fatigue
? Prominent pulmonary flow
Recurrent pulmonary infections
? Insufficient systemic flow
poor development,thin,sweating and failure
to thrive
? Potential cyanotic
crying,pneumonia,CHF
Atrial Septal Defect
? On examination may detect RV impulse
? May also detect a palpable P2 (dilated pulmonary trunk)
? S1 is normal but there is a fixed split S2
? Flow across the ASD does not produce a murmur
? A soft SEM is often audible in 2nd LICS secondary to rapid ejection
of a large RV stroke volume into a dilated PA
? A murmur >grade 3/6 often means that a large shunt is present or
there is an associated PS present
? There may be a mid-diastolic rumble from increased flow through
TV
? When RV failure ensues PSM of TR is heard
EKG
1) Right axis deviation
RVH
2) IRBBB rsR’
RVH
3) Prolong P-R period
crest hypertrophy,RV dilation
EKG
4)High P wave
RA enlargement
5)Left axis deviation
Ostium Primum defect
ASD-CXR
Cardiomegaly
Pulmonary plethora
RV enlargement
Prominent PA
Echocardiography
1) Dilated RA, RV，
RVOT
Right heart volume
overload
2) Flat ventricular
septum
3) ASD sign
Echocardiography
? Dilated RA, RV，
RVOT
? Right heart
volume overload
? Flat ventricular
septum
? ASD sign
Catheterization
1)When？
a) Clinical outcome not
match the diagnosis
b) Suspicions of pulmonary
hypertension
2)To measure,
a) Oxygen Saturation
RA>IVC,SVC
b) amount of Shunt
c) Pulmonary pressure and
resistance
Clinical course and treatment
? Well tolerated in childhood,symptoms
may appear after 2nd decade,
eventual pulmonary hypertension,
atrial dysrythmia,and tricuspid
insufficiency,
– Heart failure
? Treatment,Surgical correction at 2-6
years for all symptomatic patients and
asymptomatic patients with
pulmonary blood flow 2X systemic
eventual pulmonary hypertension,
atrial dysrythmia,and tricuspid
insufficiency,
– Operate earlier if with prominent
symptom or with CHF
Interventional catheterization
?Indication
1)Defect size <3-3.5cm
2)Enough surrounding septal tissue
3)Body weight >8kg
?Device
1) Sideris
2) Cardio Seal
3) Amplazer
Pre-intervention
Pre-intervention
Pre-intervention
During intervention
During intervention
During intervention
During intervention
During intervention
During intervention
ASD-Device
Ventricular Septal Defect
? Arterial pulse is often normal
? There may be a systolic thrill on palpation of the
precordium (maximal in 3rd or 4th ICS)
? Pansystolic,high frequency murmur (grade 4-6/6)
with small VSD and normal PAP
? Once PAP increases above the systemic pressures
the holosystolic murmur disappears
? Increase flow across pulmonary valve causes a SEM
? A loud P2 component is heard in this setting
VSD
? Clinical severity grading,
– Small,Causes negligible Hemodynamic changes,LV size normal
w/o PHTN
– Moderate,Causes LV and LA enlargement,and usually some
PHTN (reversible)
– Large,Results in pulmonary vascular obstructive disease and
Eisenmenger physiology unless there is coexistent RVOTO
? Pathologic and surgical classification,
– Perimembranous,bordered by fibrous continuity of an AV valve
and an arterial valve,usually with inlet or outlet extension
– Muscular,bordered by muscular rim,usually trabecular
– Doubly committed,bordered by fibrous continuity of both the aortic
and pulmonary valves
ECG in VSD
? May be normal but often shows LVH and LAE
? Presence of RAD represents elevated RVP and PAP
? Postoperative RBBB is common
CXR in VSD
? Cardiomegaly with LAE and
LVE will be seen with large L to
R shunts
? A large defect associated with a
small heart and oligemic lung
fields should raise the suspicion
of pulmonary vascular disease
Echo in VSD
LV RV
VSD
VSD Repair
? When repair is performed in the first two years of life,
asymptomatic adult survival with normal growth and
development can be anticipated
? When surgery is undertaken in older children,a late
postopeartive increase in LV chamber size,together
with decreased systolic function is seen
? Development of late postoperative PHTN is largely
determined by the age at surgery and preoperative
PVR
? Risk of SBE persists and requires prophylaxis
VSD Treatment
? if symptomatic,or signs of significant shunt
? medical therapy with digoxin and diuretics
? surgical closure indications
– patch closure,using cardio-pulmonary bypass
– persistent large shunt,CHF and growth failure
– persistent cardiomegaly by echo or catheterization
? outcome following surgery excellent
? often undertaken in infancy if patients with
pulmonary blood flow 2X systemic eventual
pulmonary hypertension
Patent ductus arteriosus
? Amount and direction of
shunt
size of ductus
gradient between Ao and
PA
? Left ventricular volume
overload
Pathophysiology (PDA)
? Pulmonary
hypertension
homodynamic
Eisenmenger’s
Pathophysiology (PDA)
? Eisenmenger’s syndrome
? Rv systolic pressure overload
RVH,RVF
? Differential cyanosis
mild cyanosis of left arm
pink Right arm
cyanosis in the lower half of
body
Physical Examination
? Auscultation,
(1) Continuous machinery
murmur at 2nd-3rd left
intercostal space
-systolic murmur,PH,CHF
or in infants
(2) Diastolic murmur at apex
- functional MS
(3) Loud P2
(4) Bounding peripheral pulse
with wide pulse pressure
Clinical manifestations in infants
? Auscultation,
(1) Only systolic murmur
(2) No Diastolic murmur
EKG
1) LVH
2) LA enlargements
3) BVH
4) RVH
Chest X-Ray
1)LA,LV enlargment
Volume overload
2) Pulmonary plethora,
Prominent PA
3)CHF
Echocardiography
Echocardiography
Catheterization
1)Indications,
a) suspicions of associated
abnormality
b) suspicions of PH
2)Evaluation,
a) saturation
MPA>RV
b) amounts of shunt
c) PA pressure and
resistant
d) Angiography
Prognosis and complication
? Common complication
Endocarditis
CHF
Infection arteritis
? Seldom see complication
1)PA,PDA aneurysm
2)calsification and
thrombus of PDA
Treatment
? Conventional operation indication
Treatment as soon as possible
Prevent Endocarditis,CHF and PH
? Treatment of premature infants with PDA
anti-CHF
indomethacin （ in 1 week） 90％
Treatment
? Operation
? Interventional therapy
Coil
Amplazer
Lock
Rashkind
TOF-Physical examination
(1) SEM at lower LSB
RVOTO
(2)SEEM at apex
(3) S2 single,P2 ?
(4) tet spell
(5) squatting
EKG
1) RVH
2) RAE
BVE
RVH
Chest X-ray
1)No cardiomegaly
2)Boot-shaped heart
3)Decreased pulmonary
vascular marking
4)Dilated ascending
aorta
5)Colleterol vassal
6)Right aortic arch
Echocardiography
? RVOT,PV,main and
branch PA stenosis
? Big maliagment VSD
? Overriding of Aorta
? RVH
Catheterization
1)Indications,
a) suspicious of accompany
malformation
b) CA not visible
2)Evaluation
a) Visualize RVOT,PV,main
and branch PA stenosis
b) Visualize CA
Catheterization
a) RV pressure,type of
RVOTO
b) PLV=PRV
c) Overriding Aorta
d) Aorta desaturation
Prognosis and complications
? Complications
(1)Thrombosis
stroke
brain abscess
(2)Endocarditis
RVOT PV AV
Treatment
?Indication
Severity of RVOTO
?Newborn with TOF
anti-acidosis,PEG
Systolic to pulmonary shunt
阵发性缺氧发作（ anoxic spell）
? 常见于婴儿
? 诱因：吃奶、哭闹、贫血、感染等
? 产生机制：肺动脉漏斗部一过性痉挛梗阻，导致脑缺氧
? 表现：阵发性呼吸困难、晕厥、抽搐甚至死亡
? 处理,
① 胸膝位
② 吸氧
③ 新福林 0.05mg/kg或心得安 0.1mg/kg静注
④ 5%碳酸氢钠 1.5~5.0ml/kg静注
⑤ 吗啡 0.1~0.2mg/kg皮下注射
? 预防：心得安 1~3mg/kg/d口服
Operation for TOF
Treatment
?Complete correction
6m－ 12m PA GA
?Postoperative complication
CHF
AV block
residual shunt
Tetralogy of Fallot-therapy and
outcome
? establish pulmonary blood flow
– critically blue infant--
prostaglandin
? palliation-Blalock Taussig
shunt
– connects aorta to pulmonary
artery
常见先心病鉴别诊断
先天性心脏病鉴别诊断思维程序
肺动脉瓣狭窄
肺动脉瓣狭窄
? 肺动脉瓣狭窄
（ pul-monary
stenosis PS）约占
先天性心脏病 10%
? 约 20%合并其它畸
形
PS病理解剖
? 典型 PS
? 肺动脉瓣叶融合形成畸形
? 瓣环完整
? 肺动脉干呈狭窄后扩张
? 发育不良型 PS
? 肺动脉瓣叶不规则畸形
? 瓣环发育不良
? 肺动脉干不扩张或发育不
良
? Noonan综合症常合并此
畸形
PS临床表现
? 症状
? 轻者无症状
? 狭窄严重者有劳累后气促、乏力、晕厥甚至猝死
? 右心衰表现
? 体征
? 望：心前区隆起，心尖搏动明显
? 触：扪及收缩期震颤
? 听：胸骨左缘上部可闻及 Ⅴ/Ⅵ 级响亮的喷射性收缩期杂音，伴传导；
S2分裂； P2减弱
PS辅助检查
? X线表现
? 轻者心影不大
? 重度狭窄右心增大
? 肺动脉呈狭窄后扩张，左肺动脉段可凸出
? 心电图
? 右房扩大，右室肥大伴劳损改变
? 超声心动图
? 估测肺动脉狭窄程度
? 心导管和心血管造影
? 右心室造影见“射流征”和肺动脉狭窄后
扩张
增厚的肺动脉瓣
经狭窄的肺动脉瓣
处流速增快
PS治疗
? 严重狭窄：右室收缩压 >左室收缩压
? 球囊瓣膜成形术：首选方法
? 外科瓣膜切开术
? 轻度狭窄：右室收缩压 >左室收缩压
? 随访
? 右室收缩压 >50mmHg时，狭窄解除术
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完全性大动脉转位
完全性大动脉转位
? 完全性大动脉转位（ complete transposition of the
great arteries c-TGA）占先天性心脏病的 5~7%
? 新生儿期最常见的紫绀型心脏病
? 紫绀型心脏病第二位
? 男女患病率约 2~4:1
? 未经治疗 90%在 1岁内死亡
c-TGA病理解剖
?正常,
?肺动脉位于左前上方
?肺动脉 -右心室
?主动脉位于右后下方
?主动脉 -左心室
?C-TGA,
?肺动脉位于左后下方
?肺动脉 -左心室
?主动脉位于右前上方
?主动脉 -左心室
正常 C-TGA
c-TGA血液循环途径
左心房
肺分支血管 左心室
肺动脉
肺静脉
肺循环
右心房
体循环分支 右心室
主动脉
腔静脉
体循环
左心房
肺分支血管 左心室
肺动脉
肺静脉 右心房
体循环分支 右心室
主动脉
腔静脉
正常途径
? C-TGA时肺循环和体循环
并行，心内或心外的分流是婴
儿存活的必要条件！
c-TGA临床表现
? 青紫：早期出现
? 充血性心衰表现
? 发育不良
? 早期出现杵状指（趾）
? 听诊
? S2增强
? 相应畸形的杂音
c-TGA辅助检查
? X线表现
? 肺动脉段凹陷，心蒂小，呈”蛋形心”
? 心影进行性增大
? 肺纹理取决于分流大小和肺动脉是否狭窄
? 心电图
? 电轴右偏，右室肥大
? 合并房室通道时电轴可左偏，双室肥大
? 超声心电图
? 心室大动脉连接不一致
? 心导管检查和心血管造影
C-TGA治疗
? 纠正低氧血症和代谢性酸中毒
? 姑息手术
? 球囊房隔成形术（ Rashkind procedure）
? 肺动脉环缩术
? 根治性手术
? 生理纠治术（ senning或 Mustard术）
? 解剖纠正术（ switch术）
A 球囊房隔成形术
B 解剖纠正术
A
B
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疑似心脏病
无紫绀 有紫绀
胸片 体检
肺充血 (＋ )
ECG
左
室
大
右
室
大
ECG
左
室
大
右
室
大
胸片 体检
肺充血 (＋ )
ECG
左
室
大
右
室
大
ECG
左
室
大
右
室
大
肺充血 (－ ) 肺充血 (－ )
VSD ASD AS PS TAPVC TGA/VSD TOF TA
常用先天性心脏病鉴别诊断
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孙锟
上海第二医科大学附属新华医院
上海儿童医学中心
上海市东方路 1678号
邮编 200127
电话,58732020-6008
传真,58393915
Sunkun@sh163.net
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