Congenital Heart Disease
Jie Tian M.D.
Children’s Hospital of CUMS
Epidemiology of CHD
?Prevalence
?CHD occurs in 0.5-0.8% of live births;
?The incidence is higher among stillborns
死产 (3-4%),abortuses流产 (10-25%),and
premature infants (about 2% excluding
PDA);
?About 2-3 in 1,000 newborn infants will be
symptomatic with heart disease in the first
year of life.
Epidemiology of CHD
?Prevalence
?The diagnosis is established by 1 week of
age in 40-50% of patients with CHD and
by 1 month of age in 50-60% patients;
?With the advances in both palliative姑息
and corrective surgery of the last 20 years,
the number of children with CHD surviving
to adulthood has increased dramatically;
Epidemiology of CHD
?Prevalence
?Despite these advances,CHD remains
the leading cause of death in children with
congenital malformations;
?Most congenital defects are well tolerated
in the fetus because of the parallel nature
of the fetal circulation,
Epidemiology of CHD
?Etiology
?The cause of most CHD is unknown.
?Genetic factors play some role in CHD.
?About eight percent of cases result mainly
from genetic factors,The heart defect is
usually part of a chromosomal disorder
such as Down's syndrome,However,no
specific gene locus for CHD has been
identified.
Epidemiology of CHD
?Etiology
?A child born to a parent with CHD has a
substantially大体上 increased likelihood of
having a similar congenital lesion,The
risk may be as high as 15 percent,For
certain lesions,there appears to be a
greater risk of transmission from the
mother than from the father,
Epidemiology of CHD
? Etiology
?About two percent of cases of CHD are
primarily the result of environmental or
external factors,Such factors include
rubella风疹 infection and ingestion of certain
drugs,such as lithium锂, CHD is a
prominent component of the fetal alcohol
syndrome,
?The etiologic role of other agents,such as
anticonvulsant medications and exogenous
外源 female sex hormones,is uncertain.
Noninvasive Diagnostic Studies
?Chest X ray
?The location of the heart
?The size of the heart
?The relationship between heart and great
vessel
?The blood flow of the lung
Noninvasive Diagnostic Studies
?Echocardiography
?Echocardiography has great value in
assessing congenital cardiac anomalies
and should usually be the first advanced
diagnostic study to be carried out if the
history,the physical examination,the
chest X ray,and the electrocardiogram
suggest the presence of congenital heart
disease,
Noninvasive Diagnostic Studies
?Echocardiography
?The standard M-mode display and the
two-dimensional display provide such
information about cardiac anatomy as
?the size of the cardiac chambers,
?the connections of the great vessels,
?abnormalities of the valves,
?and subvalvular obstructions.
Noninvasive Diagnostic Studies
?Doppler ultrasonography
?Doppler ultrasonography is useful in
detecting septal defects and directly
assessing the amount of blood that
shunts through the defect.
?The size of the shunt through a septal
defect can also be estimated from
Doppler ultrasound studies by comparing
the velocity of the blood flow through the
aorta with velocity through the pulmonary
artery.
Noninvasive Diagnostic Studies
? Transesophageal echocardiography
?Transesophageal echocardiography is
particularly valuable for assessing atrial
septal defects,but it also visualizes other
lesions effectively,Doppler studies are
useful in assessing valvular stenosis and
regurgitation as well.
Noninvasive Diagnostic Studies
?Computed tomography (CT)
?CT provides a good display of the
anatomic abnormalities associated with
congenital heart disease and offers
advantages over echocardiography in
demonstrating anomalies involving the
great vessels,
Computed tomography
Noninvasive Diagnostic Studies
? Magnetic resonance imaging (MRI)
?MRI provides information similar to
that provided by CT,
?MRI offers better resolution than CT
without the disadvantages of the
radiopaque不透射线的 contrast medium
used in that technique,
Noninvasive Diagnostic Studies
?Cardiac catheterization and
selective angiocardiography
?are the most definitive diagnostic
techniques currently available for
use in congenital heart disease,
?However,noninvasive studies often
provide information that is equivalent to
that obtained from cardiac catheterization
and is sufficient for planning surgical
treatment,
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect (VSD)
? VSD is the most common congenital cardiac
anomaly in infants,It is rarely seen in adults
because substantial VSD that are not corrected
surgically are associated with a high mortality.
In addition,the incidence of spontaneous
closure of VSD is relatively high; closure occurs
particularly often in infancy but also in later
years.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? The VSD that do appear in adults as isolated
anomalies are usually less than 1 cm in
diameter,Because the opening is quite small,
normal systolic pressure can be maintained in
the right ventricle and in the pulmonary artery.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? In infants with a large VSD,medical
management has two aims,to control heart
failure and to prevent the development of
pulmonary vascular disease,Therapeutic
measures are aimed at the control of heart
failure symptoms and the maintenance of
normal growth.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? Indications for surgical closure of VSD include
patients at any age with large defects in whom
clinical symptoms and failure to thrive cannot be
controlled medically.
? Infants between 6 and 12 mo of age with large
defects associated with pulmonary hypertension,
even if symptoms are controlled by medication.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? Surgical closure is usually undertaken to
prevent infective endocarditis, The incidence of
this complication is not well established,but
surgery appears to be highly effective as a
prophylactic measure.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect (ASD)
? ASD is the most frequent congenital lesion of
major importance in adults,It is often not
diagnosed until adult life,even in the present
era,because it rarely produces symptoms in
childhood and the associated physical signs are
easily confused with the cardiac findings in
normal children.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Three types of atrial septal defect are classified
on an anatomic basis,ostium secundum第二孔,
sinus venosus,and ostium primum第一孔, All
three types are associated with a left-to-right
shunt at the atrial level and volume overwork of
the right ventricle.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Blood is chronically overcirculated through the
lungs at normal intracardiac pressure levels.
Increased flow through the pulmonary valve
produces a characteristic pulmonary systolic
ejection murmur,The pulmonary valve closes
late because of the reduced impedance阻抗 in
the pulmonary arterial system,causing a wide
splitting of the second heart sound,the other
classic finding in ASD.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? The splitting remains relatively fixed in relation
to respiration; the aortic and pulmonary
components remain audibly split during
expiration,A chest x-ray usually reveals
enlargement of the heart and signs of
pulmonary overcirculation,such as a large
pulmonary trunk and increased pulmonary
vascular markings,The relative severity of these
conditions reflects the size of the left-to-right
shunt.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Two major complications of ASD are pulmonary
arterial hypertension and right ventricular failure.
Pulmonary arterial hypertension is caused by
elevated pulmonary vascular resistance; it
develops after adolescence in about 15 percent of
cases,In the most severe cases,an irreversible
plexiform arteriopathy丛状的动脉病,similar to that
seen in Eisenmenger syndrome or primary
pulmonary hypertension,is present.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? As a result of pulmonary hypertension,the left-
to-right shunt first decreases,then becomes
bidirectional,and finally reverses; a right
ventricular pressure overload develops,
pulmonary blood flow is reduced,and the
patient becomes cyanotic.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Right ventricular failure develops as a result of long-
standing volume overload; it usually affects patients
older than 40 years,Right ventricular failure is
usually associated with atrial flutter or fibrillation and
is often linked to tricuspid regurgitation,Eventually,a
syndrome of right- and left-sided congestive heart
failure develops,and at this stage,it may be difficult
to differentiate clinically between ASD and such
conditions as cardiomyopathy and mitral valve
disease.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Surgical closure of ASD is a very safe and
highly effective procedure,Prophylactic surgery
is therefore indicated in any patient in whom the
ratio of pulmonary blood flow to systemic blood
flow is 2:1 or greater,Nearly all patients in
whom ASD can be clinically diagnosed exhibit
at least this degree of left-to-right shunt.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Surgery is contraindicated 治疗或处置不当
when pulmonary hypertension approaches the
pressure level of the systemic circulation
because in such patients the operative mortality
is high and the elevated pulmonary vascular
resistance does not fall after surgery.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Nonsurgical closure using cardiac
catheterization with an umbrellalike device has
been accomplished in patients with defects less
than 2 cm in diameter,most of whom have been
infants or small children.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? The essential anatomic components of tetralogy
of Fallot are ventricular septal defect and
pulmonary stenosis,The degree of stenosis is
usually severe enough to cause a
predominantly right-to-left shunt,cyanosis,and
diminished pulmonary blood flow,The
pulmonary stenosis may be either valvular or
infundibular; the infundibular form usually
predominates in adults.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? The other two anatomic features present in
tetralogy of Fallot are an overriding aorta and
right ventricular hypertrophy,Variations exist in
the degree of dextroposition of the aorta,but
this anatomic defect rarely has functional
importance.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? The technique of the totally corrective operation
has been well established since the 1960s,and
the defect is usually repaired in infancy or
childhood,Patients who survive to adulthood
without an operation or with only a palliative
shunt operation,in which a systemic artery is
anastomosed汇合 to the pulmonary artery,may
display fairly good effort tolerance,show little or
no cyanosis,and have a seemingly good
prognosis.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? Such patients,however,may become
increasingly disabled as a result of gradual
shunt closure and the progression of
infundibular pulmonary stenosis,Furthermore,
such complications as infective endocarditis,
cerebral thromboembolism,and brain abscess
may arise if the anomaly is not repaired,
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? Total correction of TOF involves an operative
mortality risk of less than five percent,and the
late results are generally good,even though
pulmonary valvular regurgitation and impaired
contraction of the right ventricle occur in many
patients,Corrective surgery should therefore be
considered in any patient with TOF,regardless
of whether a previous shunt operation has been
performed.
Case report
?One girl with 6 year old
?Symptoms,recurrent chest
infections/wheeze
?Physical signs
?A fixed and widely split second heart sound
?An ejection systolic murmur best heard in
the third left intercostal space
Chest X-ray showed right atrial and ventricular enlargement
with increaded pulmonary vascular markings
What is this disease?
Atrial Septal Defect
Jie Tian M.D.
Children’s Hospital of CUMS
Epidemiology of CHD
?Prevalence
?CHD occurs in 0.5-0.8% of live births;
?The incidence is higher among stillborns
死产 (3-4%),abortuses流产 (10-25%),and
premature infants (about 2% excluding
PDA);
?About 2-3 in 1,000 newborn infants will be
symptomatic with heart disease in the first
year of life.
Epidemiology of CHD
?Prevalence
?The diagnosis is established by 1 week of
age in 40-50% of patients with CHD and
by 1 month of age in 50-60% patients;
?With the advances in both palliative姑息
and corrective surgery of the last 20 years,
the number of children with CHD surviving
to adulthood has increased dramatically;
Epidemiology of CHD
?Prevalence
?Despite these advances,CHD remains
the leading cause of death in children with
congenital malformations;
?Most congenital defects are well tolerated
in the fetus because of the parallel nature
of the fetal circulation,
Epidemiology of CHD
?Etiology
?The cause of most CHD is unknown.
?Genetic factors play some role in CHD.
?About eight percent of cases result mainly
from genetic factors,The heart defect is
usually part of a chromosomal disorder
such as Down's syndrome,However,no
specific gene locus for CHD has been
identified.
Epidemiology of CHD
?Etiology
?A child born to a parent with CHD has a
substantially大体上 increased likelihood of
having a similar congenital lesion,The
risk may be as high as 15 percent,For
certain lesions,there appears to be a
greater risk of transmission from the
mother than from the father,
Epidemiology of CHD
? Etiology
?About two percent of cases of CHD are
primarily the result of environmental or
external factors,Such factors include
rubella风疹 infection and ingestion of certain
drugs,such as lithium锂, CHD is a
prominent component of the fetal alcohol
syndrome,
?The etiologic role of other agents,such as
anticonvulsant medications and exogenous
外源 female sex hormones,is uncertain.
Noninvasive Diagnostic Studies
?Chest X ray
?The location of the heart
?The size of the heart
?The relationship between heart and great
vessel
?The blood flow of the lung
Noninvasive Diagnostic Studies
?Echocardiography
?Echocardiography has great value in
assessing congenital cardiac anomalies
and should usually be the first advanced
diagnostic study to be carried out if the
history,the physical examination,the
chest X ray,and the electrocardiogram
suggest the presence of congenital heart
disease,
Noninvasive Diagnostic Studies
?Echocardiography
?The standard M-mode display and the
two-dimensional display provide such
information about cardiac anatomy as
?the size of the cardiac chambers,
?the connections of the great vessels,
?abnormalities of the valves,
?and subvalvular obstructions.
Noninvasive Diagnostic Studies
?Doppler ultrasonography
?Doppler ultrasonography is useful in
detecting septal defects and directly
assessing the amount of blood that
shunts through the defect.
?The size of the shunt through a septal
defect can also be estimated from
Doppler ultrasound studies by comparing
the velocity of the blood flow through the
aorta with velocity through the pulmonary
artery.
Noninvasive Diagnostic Studies
? Transesophageal echocardiography
?Transesophageal echocardiography is
particularly valuable for assessing atrial
septal defects,but it also visualizes other
lesions effectively,Doppler studies are
useful in assessing valvular stenosis and
regurgitation as well.
Noninvasive Diagnostic Studies
?Computed tomography (CT)
?CT provides a good display of the
anatomic abnormalities associated with
congenital heart disease and offers
advantages over echocardiography in
demonstrating anomalies involving the
great vessels,
Computed tomography
Noninvasive Diagnostic Studies
? Magnetic resonance imaging (MRI)
?MRI provides information similar to
that provided by CT,
?MRI offers better resolution than CT
without the disadvantages of the
radiopaque不透射线的 contrast medium
used in that technique,
Noninvasive Diagnostic Studies
?Cardiac catheterization and
selective angiocardiography
?are the most definitive diagnostic
techniques currently available for
use in congenital heart disease,
?However,noninvasive studies often
provide information that is equivalent to
that obtained from cardiac catheterization
and is sufficient for planning surgical
treatment,
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect (VSD)
? VSD is the most common congenital cardiac
anomaly in infants,It is rarely seen in adults
because substantial VSD that are not corrected
surgically are associated with a high mortality.
In addition,the incidence of spontaneous
closure of VSD is relatively high; closure occurs
particularly often in infancy but also in later
years.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? The VSD that do appear in adults as isolated
anomalies are usually less than 1 cm in
diameter,Because the opening is quite small,
normal systolic pressure can be maintained in
the right ventricle and in the pulmonary artery.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? In infants with a large VSD,medical
management has two aims,to control heart
failure and to prevent the development of
pulmonary vascular disease,Therapeutic
measures are aimed at the control of heart
failure symptoms and the maintenance of
normal growth.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? Indications for surgical closure of VSD include
patients at any age with large defects in whom
clinical symptoms and failure to thrive cannot be
controlled medically.
? Infants between 6 and 12 mo of age with large
defects associated with pulmonary hypertension,
even if symptoms are controlled by medication.
Congenital Cardiac Anomalies in Children
? Ventricular Septal Defect
? Surgical closure is usually undertaken to
prevent infective endocarditis, The incidence of
this complication is not well established,but
surgery appears to be highly effective as a
prophylactic measure.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect (ASD)
? ASD is the most frequent congenital lesion of
major importance in adults,It is often not
diagnosed until adult life,even in the present
era,because it rarely produces symptoms in
childhood and the associated physical signs are
easily confused with the cardiac findings in
normal children.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Three types of atrial septal defect are classified
on an anatomic basis,ostium secundum第二孔,
sinus venosus,and ostium primum第一孔, All
three types are associated with a left-to-right
shunt at the atrial level and volume overwork of
the right ventricle.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Blood is chronically overcirculated through the
lungs at normal intracardiac pressure levels.
Increased flow through the pulmonary valve
produces a characteristic pulmonary systolic
ejection murmur,The pulmonary valve closes
late because of the reduced impedance阻抗 in
the pulmonary arterial system,causing a wide
splitting of the second heart sound,the other
classic finding in ASD.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? The splitting remains relatively fixed in relation
to respiration; the aortic and pulmonary
components remain audibly split during
expiration,A chest x-ray usually reveals
enlargement of the heart and signs of
pulmonary overcirculation,such as a large
pulmonary trunk and increased pulmonary
vascular markings,The relative severity of these
conditions reflects the size of the left-to-right
shunt.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Two major complications of ASD are pulmonary
arterial hypertension and right ventricular failure.
Pulmonary arterial hypertension is caused by
elevated pulmonary vascular resistance; it
develops after adolescence in about 15 percent of
cases,In the most severe cases,an irreversible
plexiform arteriopathy丛状的动脉病,similar to that
seen in Eisenmenger syndrome or primary
pulmonary hypertension,is present.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? As a result of pulmonary hypertension,the left-
to-right shunt first decreases,then becomes
bidirectional,and finally reverses; a right
ventricular pressure overload develops,
pulmonary blood flow is reduced,and the
patient becomes cyanotic.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Right ventricular failure develops as a result of long-
standing volume overload; it usually affects patients
older than 40 years,Right ventricular failure is
usually associated with atrial flutter or fibrillation and
is often linked to tricuspid regurgitation,Eventually,a
syndrome of right- and left-sided congestive heart
failure develops,and at this stage,it may be difficult
to differentiate clinically between ASD and such
conditions as cardiomyopathy and mitral valve
disease.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Surgical closure of ASD is a very safe and
highly effective procedure,Prophylactic surgery
is therefore indicated in any patient in whom the
ratio of pulmonary blood flow to systemic blood
flow is 2:1 or greater,Nearly all patients in
whom ASD can be clinically diagnosed exhibit
at least this degree of left-to-right shunt.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Surgery is contraindicated 治疗或处置不当
when pulmonary hypertension approaches the
pressure level of the systemic circulation
because in such patients the operative mortality
is high and the elevated pulmonary vascular
resistance does not fall after surgery.
Congenital Cardiac Anomalies in Children
? Atrial Septal Defect
? Nonsurgical closure using cardiac
catheterization with an umbrellalike device has
been accomplished in patients with defects less
than 2 cm in diameter,most of whom have been
infants or small children.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? The essential anatomic components of tetralogy
of Fallot are ventricular septal defect and
pulmonary stenosis,The degree of stenosis is
usually severe enough to cause a
predominantly right-to-left shunt,cyanosis,and
diminished pulmonary blood flow,The
pulmonary stenosis may be either valvular or
infundibular; the infundibular form usually
predominates in adults.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? The other two anatomic features present in
tetralogy of Fallot are an overriding aorta and
right ventricular hypertrophy,Variations exist in
the degree of dextroposition of the aorta,but
this anatomic defect rarely has functional
importance.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? The technique of the totally corrective operation
has been well established since the 1960s,and
the defect is usually repaired in infancy or
childhood,Patients who survive to adulthood
without an operation or with only a palliative
shunt operation,in which a systemic artery is
anastomosed汇合 to the pulmonary artery,may
display fairly good effort tolerance,show little or
no cyanosis,and have a seemingly good
prognosis.
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? Such patients,however,may become
increasingly disabled as a result of gradual
shunt closure and the progression of
infundibular pulmonary stenosis,Furthermore,
such complications as infective endocarditis,
cerebral thromboembolism,and brain abscess
may arise if the anomaly is not repaired,
Congenital Cardiac Anomalies in Children
? Tetralogy of Fallot
? Total correction of TOF involves an operative
mortality risk of less than five percent,and the
late results are generally good,even though
pulmonary valvular regurgitation and impaired
contraction of the right ventricle occur in many
patients,Corrective surgery should therefore be
considered in any patient with TOF,regardless
of whether a previous shunt operation has been
performed.
Case report
?One girl with 6 year old
?Symptoms,recurrent chest
infections/wheeze
?Physical signs
?A fixed and widely split second heart sound
?An ejection systolic murmur best heard in
the third left intercostal space
Chest X-ray showed right atrial and ventricular enlargement
with increaded pulmonary vascular markings
What is this disease?
Atrial Septal Defect
