This document provides information on congenital heart disease (CHD), including: - CHD occurs during the first 8 weeks of fetal development in approximately 5-8 per 1000 live births. - Causes are usually multifactorial involving both genetic and environmental factors. - Diagnosis involves physical examination, echocardiogram, chest x-ray, fetal echocardiography and cardiac catheterization. - Common types of CHD discussed include atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and atrioventricular septal defect (AVSD). Signs, symptoms, pathophysiology, and treatment are described for each

1. Congenital Heart
Disease

2. Congenital Heart Disease
• The incidence of CHD in children is approximately
5 to 8 per 1000 live birth (1/125 live birth).
• 3-4/100 still born
• CHD Occur during the 1st 8 wks. of fetal
development
• Majority have no known cause

3. Factors Contributing to CHD
• 85 to 90 % of cases, there is no identifiable
cause for the heart defect generally
considered to be caused by multifactorial
inheritance.
• Factors are usually both genetic and
environmental, where a combination of genes
from both parents,
• Unknown environmental factors.

4. Maternal Factors includes:
• Seizure disorders , intake of anti-seizure
medications
• Chronic illnesses diabetes poorly controlled,
alcohol consumption and exposure to
environmental toxins and infections.
• Family history
• Chromosomal anomalies.

5. Diagnostic Evolution:
History and Physical Examination:
• Taking an accurate health history is an
important first step in assessing an infant or
child for possible heart disease.
• Mother’s health history, pregnancy and birth
history
• Detail family history
• The physical assessment of suspected cardiac
disease begins with observation of general
appearance and then proceeds with more
specific observation.

6. Inspection:
Nutritional status- Failure to thrive (poor weight
gain) is associate with heart disease.
Color - Cyanosis is a common feature of CHD
Chest deformities- an enlarged heart sometimes
distorts the chest configuration
Unusual pulsations- Visible pulsation of the neck
veins are seen in some patients.
Clubbing of fingers
Respiratory excursion

7. Palpation :
Chest- these maneuvers help discern heart size and
other characteristics associated with heart disease.
Auscultation:
Heart rate and rhythm
Character of heart sounds

8. • Echocardiogram. Bedside cardiac monitoring
with the ECG is commonly used in
pediatrics. It provides valuable information
about heart rate and rhythm through graphic
display.
• Chest X-ray. Infant may have a chest X-ray
to see if the heart is enlarged, or if the lungs
have extra blood or other fluid in them.

9. • Fetal echocardiography: is a test like an
ultrasound. It can better show the structure
and function of fetal heart. It’s typically done
in the second trimester, between weeks 18 to
24 wks.
• Cardiac catheterization: is an invasive
diagnostic procedure in which radiopaque
catheter is inserted through a peripheral blood
vessel into the heart.

10. Classification of Defects
•Acyanotic Defects: blood is shunted
(flows) from the left side of the heart to
the right side of the heart due to a
structural defect (hole).
•Cyanotic Defects: a group-type
of (CHD) that occurs due to
deoxygenated blood entering the
systemic circulation

12. Atrial Septal Defect
ASD is an opening in the atrial septum permitting
free communication of blood between the atria.
• Seen in 10% of all CHD.
• It allows oxygenated (red) blood to pass from the
left atrium, through the opening in the septum,
and then mix with deoxygenated blood in the
right atrium.
• It can occur in any portion of the atrial septum,
depending on which embroying septal structure
has fail to develop normally.

13. Atrial Septal Defect
There are 3 major types:
• Ostium Primum ASD I – lower in position, may
be associated with mitral valve abnormalities
• Ostium Secundum ASD II – opening near center
of septum
• Sinus Venosus ASD – opening near junction of
superior vena cava

14. Atrial Septal Defect

15. Signs and Symptoms
Patient may be asymptomatic.
• Systolic murmur and diastolic murmur.
• Child tires easily when playing
• Infant tires easily when feeding
• Fatigue
• Sweating
• Tachypnea , tachycardia
• Shortness of breath, crackles
• Poor growth
• Patients are at risk for atrial dysrhythmias

16. Pathophysiology
• In ASD the right atrium not only receives
blood from SVC and IVC but also from left
atrium, causing an increased flow of
oxygenated blood into the right side of the
heart.
• RV dilates due to volume overload.
• Thus increase the blood flow to the lungs
leads to elevate pulmonary artery pressure.
• In large ASD, pulmonary blood flow
becomes 2 to 3 times the systemic flow.

17. • As the infant grows, the right ventricular
wall becomes thin and more resilient,
causing elevation in the shunt.
• Enlargement of the right atrium and
ventricle and dilation of the pulmonary
artery result from passage of large blood
flow through the right heart.

18. Surgical Treatment
• Surgical patch closure (pericardial patch or dacron patch)
is done for moderate to large defects.

19. • Ostium primum ASD type may require mitral
valve repairs or, rarely replacement of the mitral
valve.
• Closure is performed electively between ages 2
& 5 yrs to avoid late complications.
• Surgical correction is done earlier in children
with Pulm HTN.

20. Nonsurgical Treatment
• ASD 2 closure with a device during cardiac
catheterization is becoming common place and can be
done as an outpatient procedure.
• The amplatzer septal occluder is most commonly used.
• Successful closure in appropriately selected patients
requires shorter hospital stays and fewer complications.
Prognosis:- operative mortality is very low (<1%)

21. The amplatzer septal occluder

22. Ventricular Septal Defect
VSD – is an abnormal opening in the ventricular
septum, which allows free communication between
the Rt & Lt ventricles.

23. TYPES OF VSD
There are four basic types of VSD:
Conal septal VSD. The rarest of VSDs, it occurs in
the ventricular septum just below the pulmonary
valve.
Perimembranous VSD. located near the valves.
Atrioventricular canal type (inlent) VSD. This
VSD is associated with atrioventricular canal
defect. The VSD is located underneath the tricuspid
and mitral valves

24. Muscular VSD. The most common type of VSD, it
is an opening in the muscular portion of the lower
section of the ventricular septum. A large number of
these close spontaneously and do not require surgery

25. Clinical Signs & Symptoms
• Murmur sound during auscultation
• Fatigue
• Sweating
• Rapid breathing
• Congested breathing
• Anorexia
• Poor weight gain

26. Pathophysiology

27. • Due to higher pressure in the left ventricle
systemic circulation offers more resistance
than the pulmonary circulation
• Blood flows through the defect into the
pulmonary artery.
• The increased blood volume is pumped into
the lung.

28. • Increased pressure in the right ventricle as a
result of left to right shunting causes the
muscle to hypertrophy
• If the right ventricle is unable to accommodate the
increased workload, the right atrium may also
enlarged

29. Surgical Treatment
Complete repair: surgical treatment is not indicated in
patients with a small VSD and in those patients with a
small VSD and in those patients surgery requires who
have developed severe pulmonary arterial hypertension
Large defect usually require that a knitted Dacron patch
be sewn over the opening.

30. Prognosis: risks depends on the location of the
defect, the number of defects, and the presence
of other associated cardiac defects. Single
membranous defects are associated with low
mortality(<2%) multiple muscular defects can
carry a higher risk.

31. Patent Ductus Arteriosus
• Ductus Arteriosus is connection between the aorta
and the pulmonary artery. All babies are born with
a ductus arteriosus. As the baby takes the first
breath, the blood vessels in the lungs open up, and
blood begins to flow (the ductus arteriosus is not
needed)
• Most babies have a closed ductus arteriosus by 72
hours after birth. In some babies, however, the
ductus arteriosus remains open. The opening
between the aorta and the pulmonary artery allows
oxygenated blood to pass back through the blood
vessels in the lungs.

33. PDA is seen more often in the following:
• Premature infants

34. Sign and Symptoms
• Fatigue
• Sweating
• Tachypnea
• Shortness of breath
• Congested breathing
• Tiring while feeding
• Poor weight gain
• Murmur
• Increase systolic BP
• Bounding pulse

35. Pathophysiology
• PDA ( left to right shunt) oxygenated
blood passes from the aorta to the
pulmonary artery mixes with the
unoxygenated blood (due to high systemic
circulation) increased blood volume
goes to the lungs causes pulmonary
hypertension.

36. Management
Medical management: Administration of
indomethacin has proved successful in PDA in
preterm infants and some newborns
It (prostaglandin inhibitor) may help close a PDA,
works by stimulating the muscles inside the PDA to
constrict, thereby closing the connection.
Supportive care is provided with rest, adequate
intake of calories for weight gain and promotion
normal growth and development with routine care.

37. Surgical management
PDA surgical repair or closure: Repair is
usually indicated in infants younger than 6
months of age who have large defects that are
causing symptoms, such as poor weight gain
and rapid breathing
• PDA ligation- involves closing the open PDA
with stitches or the vessel connecting the
aorta and pulmonary artery and also done
by ligation or intra vascular coil.

39. Atrioventricular Septal Defect
• AVSD Consists of a low ASD that is
continuous with a high VSD and clefts of the
mitral and tricuspid valves, which create a
large central AV valve that allows blood to
flow between all four chamber of the heart.
They account for 4% of all CHD.
• It is the most common cardiac defect in
children with down syndrome.

40. Atrioventricular Septal Defect

42. • The heart is forming during the first eight
weeks of fetal development. It begins as a
hollow tube, then partitions within the tube
develop that eventually become the septa (or
walls)
• Atrial and ventricular septal defects occur
when the partitioning process does not occur
completely, leaving openings in the atrial
and ventricular septum.
• The valves that separate the upper and lower
heart chambers are being formed in the latter
portion of this eight-week period, and they
too do not develop properly.

43. Pathophysiology
• The alterations in hemodynamics depends
on the severity of the defect
• Immediately after birth, while the newborn’s
pulmonary vascular is high.
• Left to right shunting occurs, and pulmonary
blood flow increases and can development of
HF

44. Clinical Signs & Symptoms
• Congestive heart failure in infancy.
• Recurrent pulmonary infections.
• Failure to thrive.
• Exercise intolerance, easy fatigability.

45. Surgical treatment
• Complete repair: Surgical repair consists of
patch closure of the septal defects and
reconstruction of the AV valve tissue

46. • Prognosis- operative mortality is less than
5%

47. Obstructive Heart Lesions
Pulmonary Stenosis
Aortic Stenosis
Coarctation of the Aorta

48. Pulmonary Stenosis
Pulmonary Stenosis is a condition characterized by
obstruction to blood flow from the right ventricle to
the pulmonary artery. This obstruction is caused by
narrowing (stenosis) at one or more points from the
right ventricle to the pulmonary artery.
• Accounts for 7-10% of all CHD.

49. • Due to PS blood flow causes right
ventricular hypertrophy. If right ventricular
failure develops, right atrial pressure will
increase, and this may result in reopening of
the foramen ovale, shunting of unoxygenated
blood into the left atrium, and systemic
cyanosis develops
• If PS is severe, HF will be noted.

52. Clinical Manifestations
• Patients may be asymptomatic
• Mild cyanosis
• Cardiomegaly

53. Treatment
• Patient with mild PS
need annual review
• Balloon pulmonary
valvuloplasty is the
treatment of choice for
PS.

54. Aortic Stenosis
• Aortic Stenosis is an obstruction to the outflow
from the left ventricle at or near the aortic valve
that. Accounts for 7% of CHD.
Types
• Subvalvular (subaortic) – involves the left outflow
tract.
• Supravalvular – involves the ascending aorta is the
least common.

57. Coarctation of the Aorta
Coarctation-(CoA or
CoAo), also called aortic
narrowing, is a
congenital condition
whereby the aorta is
narrow, usually in the
area where the ductus
arteriosus inserts. The
word "coarctation"
means narrowing.
It is located at the
junction of the arch with
descending aorta

58. Hemodynamics
• Obstruction of left ventricular
outflow  hypertrophy of the LV.
• The descending aorta must receive
its total supply from the LV.
• Neonates with severe coarctation
therefore become symptomatic
immediately as the duct starts to
close.