This document provides an overview of congenital heart disease (CHD). It begins with objectives and an outline of the topics to be covered, including a case presentation of a 4 day old infant with a patent ductus arteriosus. Key points include: the causes of CHD can be genetic or environmental; CHD is classified into categories like septal defects, cyanotic defects, and obstructive defects; signs and symptoms vary depending on the specific defect but may include murmurs, breathing difficulties, and cyanosis; and management involves treatments like medication or surgery depending on the severity and type of defect.

1. CONGENITAL HEART
DISEASE
Presenters:
Dr Zabron Charles ORT
Dr Chireah Stephen OBGYN
Facilitator: Dr Chillo

2. OBJECTIVES
• By the end of this session students should
be able to:
1. Describe the etiology of CHD
2. List the types of CHD
3. Explain the pathophysiology of CHD
4. List the signs of CHD
5. List management of CHD

3. OUTLINE
• Case presentation
• Milestones of Jakaya Kikwete Cardiac
Institute
• Introduction
• Embryology of the Heart
• Normal physiology of the heart
• Etiology of CHD
• Classification of CHD

4. OUTLINE
• Acyanotic congenital heart disease
• Cyanotic congenital heart disease
• Obstructive congenital heart disease
• Management
• Summary

5. Case presentation
• A 4 day old female infant is seen by the
cardiologist.
• Infant was referred due to suspicion of a
congenital heart defect.
• Hx: The infant was delivered via a C/S at
32/40 because of PET in the mother.
• A.S was 7,9,9. A machine like murmur was
noted through systole and diastole

6. • Physical exam:
• VS- T-36c,P-115/min, RR-35/min Bp-
65/35mmHg
• CNS-Alert. Normal frontanelles,weak
primitive reflexes.
• CVS-machine like murmur sys/dias
• R/S- vesicular breathe sounds

7. • P/A- soft,no organomegally
• GUT- no visible malformation

8. Laboratory studies
• Doppler echo: Continuous flow of blood
from the aorta into the pulmonary artery
through the ductus arteriosus

9. Diagnosis
• Patent ductus arteriosus
• Mx: Indomethacin 10mg/kg bolus followed
by 5mg/kg OD for the next two days
• The PDA closed gradually and the infant
was discharged over the next 3 days.

10. JAKAYA KIKWETE CARDIAC
INSTITUTE

11. MILESTONE OF HEART SURGERY AT JAKAYA
KIKWETE CARDIAC INSTITUTE-TANZANIA
• TREND OF REFERRAL TO INDIA 2012-2016
YEAR MALE FEMALE TOTAL
2012 106 53 159
2013 111 87 198
2014 102 76 178
2015 50 39 89
2016 1 3 4
TOTAL 370 258 628

12. MILESTONE OF HEART SURGERY
AT JAKAYA KIKWETE CARDIAC
INSTITUTE-TANZANIA
Surgery Costs among patients operated in
2016 at JKCI against Projected Cost if were
done in India.(65% cost reduction)
PLACE OF PROCEDURE
INDIA TANZANIA
COST OF
SURGERIES
4,720,000,000 Tshs 1,657,000.000 Tshs

13. DIAGNOSIS OF PATIENTS
REFERRED TO INDIA 2012-2016
31%
24%
16%
12%
11%
6%
PATENT DUCTUS
ARTERIOUSUS
ASD/VSD
OTHERS
RHD
TOF
PS

14. INTRODUCTION
• Congenital heart defects are anomalies of
the heart's structure that are present at
birth.
• These defects can involve the interior
walls of the heart, valves inside the
heart, or the arteries and veins that carry
blood to the heart or from the heart to the
body.
• Congenital heart defects change the
normal flow of blood through the heart.

15. • There are many different types of
congenital heart defects.
• They range from simple defects with no
symptoms to complex defects with
severe, life-threatening symptoms.
• Congenital heart defects are the most
common type of birth defect affecting 8-9
of every 1,000 newborns.

16. EMBRYOLOGY OF HEART
It develops from primitive heart tube formed
from cardiogenic area of the embryo.
The heart tube forms five dilatations, from
cranial -to-caudal end, as follows:
1.Truncus arteriosus
2. Bulbus cordis
3. Primitive ventricle
4. Primitive atrium
5. Sinus venosus.

17. EMBRYOLOGY OF HEART
Steps of heart development
Tube formation
Looping
Septal formation (atrial and ventricular)
Outflow tract septation

18. EMBRYOLOGY OF HEART

19. NORMAL HEART
• The heart has two sides, separated by an
inner wall called septum.
• The right side of the heart pumps blood to
the lungs to pick up oxygen.
• Then oxygen-rich blood returns from the
lungs to the left side of the heart and the
left side pumps it to the body.
• The heart has four chambers and four
valves and is connected to various blood
vessels.

20. • The tricuspid valve is in the right side of the
heart, between the right atrium and the right ventricle.
•
The mitral valve is in the left side of the heart, between
the left atrium and the left ventricle.
• The pulmonary valve is in the right side of the
heart, between the right ventricle and the entrance to the
pulmonary artery, which carries blood to the lungs.
• The aortic valve is in the left side of the heart, between
the left ventricle and the entrance to the aorta.

22. CAUSES
• The cause of congenital heart disease
may be either genetic or
environmental, but is usually a
combination of both.
Genetic causes
• Most of the known causes of congenital
heart disease are sporadic genetic
changes, either focal mutations or deletion
or addition of segments of DNA.

23. • large chromosomal abnormalities such as
trisomies 21, 13, and 18 cause about 5-
8% of cases of CHD.
• Trisomy 21 being the most common
genetic cause of CHD.
Environmental causes
• Known antenatal environmental factors
include maternal obesity, infections
(Rubella),diabetes mellitus, drugs such as
alcohol, lithium and thalidomide.

24. Classification of Congenital
Heart Disease
1. Shunts
• Left to Right shunts (Acyanotic or Late
Cyanotic)
I. Ventricular Septal Defects (25-30%)
II. Atrial Septal Defects (10-15%)
III.Patent ductus arteriosus (10-20%)
• Right to left Shunts (Cyanotic group)
I. Tetralogy of Fallot (6-15%)
II. Transposition of great arteries (4-10%)

25. Classification of Congenital
Heart Disease
III.Persistent truncus arteriosus (2%)
IV.Tricuspid atresia and stenosis (1%)
2. Obstructive congenital heart disease
I. Coarctation of the aorta (5-7%)
II. Aortic stenosis and atresia (4-6%)
III.Pulmonary stenosis and atresia (5-7%)
3. Malpositions of the heart

26. SEPTAL DEFECTS
• Defects in the interatrial septum or the
interventricular septum allow blood to flow
from the left side of the heart to the
right, reducing the heart's efficiency eg:
ASD and VSD.
• Ventricular septal defects are collectively
the most common type of CHD.

27. CYANOTIC DEFECTS
• They are called such because they result
in cyanosis, a bluish-grey discoloration of
the skin due to a lack of oxygen in the
body.
• Such defects include persistent truncus
arteriosus, total anomalous pulmonary
venous connection, tetralogy of
Fallot, transposition of the great
vessels, and tricuspid atresia.

28. OBSTRUCTION DEFECTS
• Occurs when heart valves, arteries, or
veins are abnormally narrow or blocked.
• Common defects include pulmonary
stenosis aortic stenosis and coarctation of
the aorta.
• Any narrowing or blockage can cause
heart enlargement or hypertension.

29. CLASSIFICATION
HYPOPLASTIC DEFECTS
• HYPOPLASIA can affect the heart, typically
resulting in the underdevelopment of the RT
ventricle or the LT ventricle causing Hypoplastic
RT heart syndrome and Hypoplastic LT heart
syndrome respectively.
• This results in only one side of the heart capable
of pumping blood to the body and lungs
effectively.
• Hypoplasia of the heart is rare but is the most
serious form of CHD.

30. NON CYANOTIC CONGENITAL
HEART DISEASES (SHUNTS)
• VENTRICULAR SEPTAL DEFECT (VSD)
• One of the common malformation .
• Failure of the formation or development of
ventricular septum causing flow of oxygen rich
blood from left ventricle to right ventricle rather
than aorta as normal.
• VSD can be small or large.
• A small VSD doesn't cause problems and may
often close on its own.

31. PATHOPHYSIOLOGY
• Normally left ventricle pressure is higher
120mmhg compared to right ventricle
20mmhg.
• Blood flows from high pressure to low
pressure (left–right)
• Less blood leaves the LV, reduces stroke
volume and cardiac output.
• Increase of blood to pulmonary circulation
causing pulmonary hypertension

32. PATHOPHYSIOLOGY
• High pressure in the right ventricle
• Reversal of shunt from right to left leading
to cyanosis
• (Eisenmenger Syndrome.)- pulmonary
hypertension irreversible, cyanosis and
reversal shunt( L2R shunt converted into
R2L due to PAP and pulmonary vascular
disease

33. COMPENSATION MECHANISM
• Through a sympathetic response, the heart
rate increases in order to increase cardiac
output.
• This increases the oxygen demand in the
heart, and restricts coronary perfusion.
• peripheral resistance increases.
• The heart dilates and becomes
hypertrophied, However, this response is
ineffective because of the defect in the heart
itself.

34. COMPENSATION MECHANISM
• Respiratory rate increases if the oxygen
deficit results in acidosis due to increased
lactic acid in the body, but oxygen levels
must drop considerably before this factor
influences the respiratory rate.
• Secondary polycythemia develops with
chronic hypoxia as erythropoietin secretion
increases as compensation.

36. EISENMENGER SYNDROME
• Dyspnoea upon exertion
• Syncope due to low CO
• Chest pain
• Cyanosis
• Congestive RHF
• Pulmonary haemorrhage/hemoptysis
• Erythrocytosis and hyperviscosity
complication
• Endocarditis, stroke, brain abscess

37. CLINICAL FEATURES
• The most common symptoms and signs
include:
• Pansystolic murmur
• Shortness of breath
• Fast breathing
• Hard breathing
• Delayed growth
• Decreased exercise intolerance

38. ATRIAL SEPTAL DEFECT
• Occurs at the septum between the right and left
atria.
• In fetal circulation, there is normally an opening
between the two atria.
• This opening normally closes around the time
the baby is born.
• If the ASD is persistent, blood continues to flow
from the left to the right atria hence shunt.

39. TYPES OF ASD
1. Fossa Ovalis type (90%)- situated at
fossa ovalis
2. Ostium primum type (5%)- located at the
interatrial septum adjacent to the
atrioventricular valves.
3. Sinous venous type (5%)- defect at the
interatrial septum near the SVC entry

40. PATHOPHYSIOLOGY
• Left to right shunt at the atrial level leading
to an increased pulmonary flow.
• Volume hypertrophy of RA and RV.
• Enlargement and hemodynamic changes
of the tricuspid and pulmonary valves
• Endocardial hypertrophy of RA and RV
• Volume atrophy of the LA and LV
• Small sized mitral and aortic orifices

41. CLINICAL SYMPTOMS
• Large defects; hyperdynamic state due to
increased diastolic filling and large SV.
• Diastolic and systolic murmurs
• palpitations
• Difficulty breathing
• Shortness of breath
• Pulmonary rales
• FTT, Hepatomegally

42. ASD

43. PATENT DUCTUS ARTERIOSUS
• In fetus, the ductus arteriosus (DA) is the
vascular connection between the
pulmonary artery and the aortic arch that
allows blood from the right ventricle to
bypass the fetus' fluid-filled compressed
lungs.
• This shunt protects the right ventricle from
pumping against the high resistance in the
lungs, which can lead to right ventricular
failure if the DA closes in-utero.

44. • When the newborn takes its first
breath, the lungs open and pulmonary
vascular resistance decreases.
• In normal newborns, the DA is
substantially closed within 12–24 hours
after birth, and is completely sealed after
three weeks.

45. • Stimulus for the closure of the ductus is
the increase in neonatal blood oxygen
content and withdrawal from maternal
circulating prostaglandins.
• After birth, the lungs release bradykinin to
constrict the smooth muscle wall of the DA
and reduce bloodflow through the DA as it
narrows and completely closes.

46. • In a patent ductus arteriosus (PDA) the duct
does not close, resulting in irregular
transmission of blood between the aorta and
the pulmonary artery.
• PDA is common in neonates with persistent
respiratory problems such as hypoxia, and in
premature children.
• In hypoxic newborns, too little oxygen reaches
the lungs to produce sufficient levels of
bradykinin and subsequent closing of the DA.

47. • Premature children are more likely to be
hypoxic and thus have PDA because of
their underdeveloped heart and lungs.
• A patent ductus arteriosus allows a portion
of the oxygenated blood from the left heart
to flow back to the lungs by flowing from
the aorta to the pulmonary artery.

48. • If this shunt is substantial, the neonate
becomes short of breath: the additional
fluid returning to the lungs increases lung
pressure to the point that the neonate has
greater difficulty inflating the lungs.
• This uses more calories than normal and
often interferes with feeding in infancy.
• This condition, as a constellation of
findings, is called congestive heart failure.

50. SIGNS AND SYMPTOMS
While some cases of PDA are
asymptomatic, common symptoms include:
• continuous machine-like heart murmur
• Increased work of breath
• Poor growth
• Tachycardia
• shortness of breath
• enlarged heart
• widened pulse pressure

51. RIGHT TO LEFT SHUNT
(Cyanotic Group)
There is entry of poorly oxygenated blood
into systemic circulation resulting in early
cyanosis.
4Ts
Tetralogy of Fallot
Transposition of great arteries
Persistent Truncus arteriosus
Tricuspid atresia and stenosis

52. TETRALOGY OF FALLOT
The four components of the Tetralogy
of Fallot.
VSD (“shunt”)
Displacement of the aorta to the right so
that it overrides the VSD
Pulmonary stenosis (“obstruction”)
 RV hypertrophy

53. TETRALOGY OF FALLOT.
Tetralogy of Fallot is the most common
cyanotic congenital heart disease.
It is found in about 10% of children with
anomalies of the heart.
There are two forms of tetralogy
Cyanotic
Acyanotic:

54. A. Cyanotic Tetralogy:
• Pulmonary stenosis is greater and the VSD
is mild.
• Resistance to the outflow of blood from the
right ventricle results into right to left shunt
causing cyanosis.

55. Pathophysiology of Cyanotic TF
The effects on the heart are as follows
Pressure hypertrophy of the right atrium
and right ventricle.
Smaller and abnormal tricuspid valve.
Smaller left atrium and left ventricle.
Enlarged aortic orifice.

56. B. Acyanotic Tetralogy:
The VSD is larger and pulmonary stenosis is
mild .
There is mainly left-to-right shunt with
increased pulmonary flow and increased
volume in the left heart but no cyanosis.
The effects on the heart are as under:
Pressure hypertrophy of the right ventricle
and right atrium.
Volume hypertrophy of the left atrium and left
ventricle.
Enlargement of mitral and aortic orifices.

57. TRANSPOSITION OF GREAT
ARTERIES
It is a complex malformation that regards
position of the aorta, pulmonary
trunk, atrioventricular orifices and the position
of atria in relation to the ventricles.
1. Regular transposition: most common type.
The aorta is displaced anteriorly and to the
right; The aorta emerges from the right
ventricle. The pulmonary trunk emerges from
the left ventricle.

58. TRANSPOSITION OF GREAT
ARTERIES
2. Corrected transposition: uncommon
anomaly
• Aorta arising from the right ventricle and
pulmonary trunk from the left ventricle.
• Pulmonary veins enter the right atrium,and
systemic veins drain into the left atrium.
• Results in a physiologically corrected
circulation.

59. PERSISTENT TRUNCUS
ARTERIOSUS.
Rare anomaly
The arch that normally separates the aorta
from the pulmonary artery fails to develop.
Large common vessel receiving blood from
the right as well as left ventricle persist.
There is L2R shunt and frequently early
systemic cyanosis.
The prognosis is generally poor.

60. TRICUSPID ATRESIA AND
STENOSIS
Tricuspid atresia and stenosis are rare
anomalies.
There is often associated pulmonary
stenosis or Pulmonary atresia.
There is often an interatrial defect through
which right-to-left shunt of blood takes
place.
 Children are cyanotic since birth and live
for a few weeks or months.

61. Atrioventricular Septal Defect
• AVSD results from incomplete fusion the
the endocardial cushions, which help to
form the lower portion of the atrial
septum, the membranous portion of the
ventricular septum and the septal leaflets
of the triscupid and mitral valves.
• They account for 4% OF ALL CHD.
• Associated with Down’s Syndrome
(Trisomy 21), Seen in 20-25% of cases.

62. Atrioventricular Septal Defect

63. Atrioventricular Septal Defect
• Hyperactive precordium
• Normal or accentuated 1st hrt sound
• Wide, fixed splitting of S2
• Pulmonary systolic ejection murmur w/thrill
• Holosystolic murmur @ apex w/radiation
to axilla
• Mid-diastolic rumbling murmur @ LSB
• Marked cardiac enlargement on CX-Ray

64. Atrioventricular Septal Defect
• Surgery is always required.
• Treat congestive symptoms.
• Pulmonary banding maybe required in
premature infants or infants < 5 kg.
• Correction is done during infancy to avoid
irreversible pulmonary vascular disease

65. OBSTRUCTIVE CONGENITAL
HEART DISEASE
1.Coarctation of Aorta
2.Aortic Stenosis and Atresia
3.Pulmonary Stenosis and Atresia

66. COARCTATION OF AORTA
Coarctation of aorta is a narrowing in any
part of aorta. The constriction may be:
Distal from Ductus Arteriosus (postductal or
adult), (common)
Proximal to Ductus Arteriosus (preductal or
infantile type)- (rare)
All occur in region of transverse aorta.

67. Postductal or adult type-CA
• The obstruction is distal to the point of
entry of Ductus Arteriosus, normally
closed.
• In the stenotic segment, the aorta appears
as if a suture has been tied around it.
• The condition is recognized in adulthood.

68. Postductal or adult type-CA
Pathophysiology
 BP in the upper extremities, weak pulses
 BP in the lower extremities
Arterial insufficiency such as claudication and
coldness
• Collateral circulation between Prestenotic and
Post-stenotic arterial branches so that
intercostal arteries are enlarged and palpable
and with time produce erosion on inner
surface of ribs.

69. Preductal or infantile CA
• The narrowing is proximal to the Ductus
Arteriosus which usually remains patent.
• There is often association with Atrial
Septal Defect.
• The manifestations are produced early in
life.

70. Preductal or infantile CA
Pathophysiological changes
Right ventricular hypertrophy occurs while
the left ventricle is small.
Cyanosis develops in the lower half of the
body while the upper half remains unaffected
since it is supplied by vessels originating
proximal to the Coarctation.
Children with this defect have poor prognosis.

71. AORTIC STENOSIS
Aortic Stenosis is a common congenital
anomaly of Aortic Valve which does not have
much functional significance but predisposes it
to calcification.
Aortic Stenosis may be also acquired- RHD
There is pressure hypertrophy of the left
ventricle and left atrium, and dilatation of the
aortic root.

72. PULMONARY STENOSIS AND
ATRESIA
• Isolated Pulmonary Stenosis and Atresia
do not cause Cyanosis and hence are
Acyanotic heart diseases.
• It may occur with Tetralogy of Fallot or as an
isolated defect.
• Pulmonary stenosis cause obstruction to the
outflow of blood from the right ventricle and
dilatation of the pulmonary trunk.

73. PULMONARY STENOSIS AND
ATRESIA
Pulmonary Atresia:
Commonest form of obstructive CHD (7%)
May occur as a component of tetralogy of
Fallot or as an isolated defect.
Pulmonary stenosis is formed by fusion
cusps of the pulmonary valve.

74. PULMONARY STENOSIS AND
ATRESIA
Leads to a diaphragm like obstruction to
the outflow of blood from the RV and
dilatation of the pulmonary trunk.
In atresia there is no communication
between RV and the lungs.
Blood bypasses the RV through an
interatrial septal defect.
It enters the lungs via PDA.

75. MANAGEMENT
• Prior to corrective surgery, children with tetralogy
of Fallot may be prone to consequential acute
hypoxia (tet spells), characterized by sudden
cyanosis and syncope.
• These may be treated with beta-blockers such
as propranolol,
• but acute episodes may require rapid
intervention with morphine to reduce ventilatory
drive and a vasopressor such as
epinephrine, phenylephrine, or norepinephrine to
increase blood pressure.

76. • Oxygen (100%) is effective in treating
spells because it is a potent pulmonary
vasodilator and systemic vasoconstrictor.
• This allows more blood flow to the lungs
and hence increasing the amount of
oxygenated blood.

77. • There are also simple procedures such as
squatting and the knee chest position
which increases aortic wave
reflection, increasing pressure on the left
side of the heart, decreasing the right to
left shunt thus decreasing the amount of
deoxygenated blood entering the systemic
circulation.

78. SUMMARY.
• Congenital heart defects are anomalies of the
heart's structure that are present at birth.
• Congenital heart defects change the normal
flow of blood through the heart.
• Congenital heart defects are the most common
type of birth defect, affecting 8-9 out of every
1,000 newborns.
• There are many types of congenital heart
defects ranging from simple to very complex.
• Specific cause is unknown but heredity may play
a role.

79. • Although many heart defects have few or no
symptoms, Severe defects can cause symptoms
such as:
– Rapid breathing.
– A bluish tint to skin, lips, and fingernails.
– Fatigue.
– Poor blood circulation.
• Serious heart defects are usually diagnosed
while a baby is still in the womb or soon after
birth. Some defects aren't diagnosed until later
in childhood, or even in adulthood.

80. • An echocardiogram is an important test for
both diagnosing a heart problem and
following the problem over time.
• This test helps diagnose problems with
how the heart is formed and how well it's
working.
• Other tests include ECG, chest x
ray, pulse oximetry and cardiac
catheterization.

81. • Treatment depends on the type and
severity of the defect which is done with
catheter or open surgery.
• With new advances in testing and
treatment, most children with congenital
heart defects grow into adulthood and can
live healthy, productive lives.
• Some need special care all through their
lives to maintain a good quality of life .

82. References
• Robbin pathologic basis of Diseases by
Contran, Kumar and Collins sixth Edition.
• Text book of medicine by Harrison
• Medical physiology text book by Guyton
and Hall
• https://emedicine.medscape.com/specialte
• http://www.kenyacardiacs.org/downloads/
CardiologyJKInstitute Dar

83. Thank you for listening!