Congenital Heart Disease

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Congenital Heart Disease
Jie Tian M.D. Childrens Hospital of CUMS
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Epidemiology of CHD

• Prevalence
• CHD occurs in 0.5-0.8 of live births
• The incidence is higher among stillborns??(3-4),
  abortuses??(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.

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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??and
  corrective surgery of the last 20 years, the
  number of children with CHD surviving to
  adulthood has increased dramatically

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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.

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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.

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Epidemiology of CHD

• Etiology
• A child born to a parent with CHD has a
  substantially???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.

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Epidemiology of CHD

• Etiology
• About two percent of cases of CHD are primarily
  the result of environmental or external factors.
  Such factors include rubella??infection and
  ingestion of certain drugs, such as lithium?. CHD
  is a prominent component of the fetal alcohol
  syndrome.
• The etiologic role of other agents, such as
  anticonvulsant medications and exogenous??female
  sex hormones, is uncertain.

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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

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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.

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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.

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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.

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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.

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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.

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Computed tomography
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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?????contrast
  medium used in that technique.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Congenital Cardiac Anomalies in Children

• Atrial Septal Defect
• Three types of atrial septal defect are
  classified on an anatomic basis ostium
  secundum???, sinus venosus, and ostium primum???.
  All three types are associated with a
  left-to-right shunt at the atrial level and
  volume overwork of the right ventricle.

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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?? in the
  pulmonary arterial system, causing a wide
  splitting of the second heart sound, the other
  classic finding in ASD.

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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.

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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??????,
  similar to that seen in Eisenmenger syndrome or
  primary pulmonary hypertension, is present.

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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.

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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.

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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 21 or greater. Nearly all patients in
  whom ASD can be clinically diagnosed exhibit at
  least this degree of left-to-right shunt.

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Congenital Cardiac Anomalies in Children

• Atrial Septal Defect
• Surgery is contraindicated ??????? 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.

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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.

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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.

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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.

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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??to the pulmonary artery, may display
  fairly good effort tolerance, show little or no
  cyanosis, and have a seemingly good prognosis.

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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 .

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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.

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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

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Chest X-ray showed right atrial and ventricular
enlargement with increaded pulmonary vascular
markings
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What is this disease?
Atrial Septal Defect