The lecture is for medical student. It is from Dr RUSINGIZA Emmanuel, MD, senior lecture at UR( UNIVERSITY OF RWANDA) . It will help to understand heart diseases in newborn, infants and children.

1. CONGENITAL HEART
DISEASES (CHD)
Dr. Emmanuel RUSINGIZA

2. Objectives
 Understand the fetal circulation and changes
that occur at birth
 Understand the basic pathophysiology and the
clinical presentation and of common CHD
 Suggest the appropriate management of
common CHD in children

3. OUTLINE
1. FETAL & PERINATAL CIRCULATION
2. COMMON MALFORMATIONS & SYNDROMES
WITH
CARDIOVASCULAR INVOLVEMENT.
3. ACYANOTIC HEART DISEASES
3.1 VENTRICULAR SEPTAL DEFECT
3.2 ATRIAL SEPTAL DEFECT
3.3 ATRIOVENTRICULAR SEPTAL DEFECT
3.4 PATENT DUCTUS ARTERIOSUS

4. Outline…
4. COARCTATION OF AORTA
5. PULMONARY VALVULAR STENOSIS
6. CYANOTIC CONGENITAL HEART
DISEASES
6.1 TETRALOGY OF FALLOT
6.2 D-TRANSPOSITION OF GREAT ARTERIES
6.3 OTHER CYANOTIC HEART DEFECTS

5. FETAL CIRCULATION
 Is integral part of understanding pathophysiology,
clinical manifestations and natural history of CHD
 Arranged in parallel,
 Exchange of gases and nutrients in placenta, has
the lowest vascular resistances in the fetus
 RV delivering the majority of its output to the
placenta for oxygenation,
 LV : heart, brain, and upper part of the body.
This parallel circulation permits fetal survival despite a
wide variety of complex cardiac lesions.

6. Fetal circulation…
 Blood returning from the placenta via the
umbilical vein;
 Some of it: into the hepatic veins and the portal
system of the liver, whereas the remainder
passes through the ductus venous into the
inferior vena cava.

7. Fetal circulation…
 About 40% of the blood returning from the
inferior vena cava passes across the foramen
ovale into the left atrium;
 Pulmonary arteries: High resistance due to
fluid –filled lungs and constricted pulmonary
arterioles.
 Almost 90% of pulmonary flow, passes
through the open ductus arteriosus into the

10. Transitional circulation at birth
>>> Circulation from parallel to serial (gas exchange in the lungs).
Failure of any one of complex series that take place within minutes
of birth leads to generalized hypoxemia and brain damage or
death.
Removal of the placenta results:
 Incre asing o f syste m ic re sistance
 Cessation of blood flow in the umbilical vein, closure of ductus
venosus
 Re ductio n in the pulm o nary vascular re sistance
 Functional closure of the foramen ovale
 Closure of ductus arterious
 Incre asing o f syste m ic flo w

11. Chro m o so m a lsyndro m e s Chro m o so m al Syndro m e s
(fre q ue nce o f he a rt
m alfo rm a tio ns)
He art de fe ct
Down syndrome (50%) AV septal defect, VSD,
ASD, PDA, TOF
Trisomy 18 (90%) VSD, ASD, AV septal
defect, PDA
Trisomy 13 (90%) VSD, ASD, AV septal
defect, unique ventricle
Trisomy 22(50%) VSD, ASD, PDA
Ge ne tic a bno rm alitie s Syndro m e (lo calisatio n) He art de fe ct
Di George (22q11) Troncus arteriosus, TOF,
inter of aortic arch
Holt-Oram(12q24) ASD
Noonan (12q) Pulmonary stenosis, ASD,
cardiomyopathy
Williams Beuren (7q11.23) Supra-aortic stenosis
CHROMOSOMAL AND GENETIC ABNORMALITIES with
Cardiac involvement

12. NON CYANOTIC CONGENITAL
HEART DISEASES
 1. VENTRICULAR SEPTAL DEFECT (VSD).

13. VENTRICULAR SEPTAL DEFECT .
 Dehiscence of interventricular septum
 most common lesion seen in congenital heart
diseases (30%).
 Ventricular defect may be located anywhere in the
ventricular septum,
 may be single or multiple, and may be of variable
size and shape.

16. Anatomic types of VSDs
 muscular,
(5-6)
 membranous, (1-2-3)
 Infundibular (7), sub-
aortic (8)
 Endocardial cushion
(4).

17. VSD…
Anatomy
4 types of VSD according to their location:
• Me m brano us de fe ct: jonction tricuspid- aortic
valves
• Muscular de fe ct: may be located anywhere in
the apical, mid, anterior, or posterior muscular
septum and are often multiple.

18. VSD…
 Infundibular de fe ct: Located under the
pulmonary valve when viewed from the right
ventricle and are immediately beneath the aortic
valve when viewed from the LV.
 Endo cardialcushio n de fe ct: located beneath the
tricuspid valve, extending to the tricuspid valve
ring.

19. VSD…
Physiology
• Size of the defect and the pulmonary vascular
resistance determine the hemodynamic: left to right
shunting through the ventricular defect begins and
increases in the first weeks of life.
• The bulk of shunting occurs in systole, with lesser
amounts in diastole.
• Symptoms are determined by the size of the shunt: With
a large effect, such heart failure can occur within days of
birth, but is usually delayed until the third week of life.

20. VSD…
Symptoms:
• Tachypnea, sweating
• Failure to thrive (poor caloric intake and increased oxygen
consumption due to excessive work of the heart and lungs).
• Recurrent respiratory infections
Physical examination: depends up on amount of left to right
shunting.
- Polypnea
- Hyperdynamic impulse, rapid
- Systolic murmur at low sternal border
- Pulmonary crepitations are often due to infection or atelectasis
and
no pulmonary oedema.

21. VSD…
Investigations:
 Electrocradiogram
o Normal in case of small VSD
o Left ventricular hypertrophy
o High right ventricular pression
 Chest X-ray:
o Cardiomegaly
o Increased pulmonary vascular marking
 Echocardiography: Confirms the diagnosis
 Cardiac catheterization
o Rarely necessary since arrival of echocardiography.
o Used often to quantitate pulmonary vascular resistance and study resistance
responses to vasodilators.
Antenatal diagnosis: possible!!!

22. Pro g no sis & Co m plicatio ns
 30-50 % of small VSDs will close
spontaneously , most frequently during the 1st
year of life
 Majority of defects that close will do so before
age 4 years
 One of the long term risks for these patients is
that of infe ctive e ndo carditis.

23. It is less common for moderate or large VSD to close
spontaneously , even defects large enough to result in
H.F.(manifested in infants as F.T.T.) may become
smaller & rarely will close completely.
Recurrent chest infections , C.H.F. and pulmonary
hypertension in large defects leading to pulmonary
vascular obstructive disease = EISENMENGER
Syndrome.

24. Treatment (small defects)
- Reassure parents
- surgical repair is not recommended
- Protection against infective endocarditis
- Follow up screening for pulmonary HTN

25. Treatment (large defects)
Two aims :
-control CHF
-prevent development of pulmonary vascular disease.
•Medical: Lasix and captopril
•Feeding (high calories)
Surgical closure for large defects between 6 & 12

26. 2. ATRIAL SEPTAL DEFECT (ASD)

27. ATRIAL SEPTAL DEFECT
• 8% of congenital heart diseases.
• Anatomy and physiology:
o single or multiple.
o Involves three structures: the septum primum, septum secundum
and atrioventricular canal septum
o The amount of shunting : left ventricular compliance.
o Although most infants with ASD are asymptomatic, a few numbers
develop congestive heart failure and growth failure.
o Older patients may develop pulmonary vascular disease. In
general, this is rare before 20 years.

28. ASD…
Clinical manifestations
 The lack of symptoms and the lack of readily heart
murmur account for the delay in discovering
 A few small infants and many older adults present with
congestive heart failure.
Physical examination:
o Left parasternal bulge evidence
o Fixed splitting interval
o Ejection pulmonary systolic murmur, absent
occasionally
o Diastolic rumble at the left lower sternal border.

29. ASD…
1. Electrocardiography:
 Incomplete right bundle branch block
 RVH (rarely)
2. Chest X-Ray:
 Cardiomegaly proportionate to the amount of
shunting and the pulmonary vascularity.

30. ASD…
3. Echocardiography: confirms the diagnosis
Others exams:
• Catheterization in case of doubt on abnormal
pulmonary veins, pulmonary hypertension and
ASD closure.
• MRI: helpful in patient with a known or suspected
ASD, usually adolescent and adult with
inconclusive clinical and echocardiographic
findings.

32. ASD…
Treatment:
 Medical treatment in case of congestive heart
failure, with diuretics;
 Surgical repair or closure by device
(Amplatzer…).

33. 3. ATRIOVENTRICULAR SEPTAL
DEFECTS (AVSD)

34. ATRIOVENTRICULAR SEPTAL
DEFECTS
Abnormalities grouped together because they
represent a spectrum of a basic embryologic
abnormality:
a. Partialatrio ve ntricular se ptalde fe ct
 ostium primum defect is situated in the lower
portion of the atrial septum and overlies the
mitral and tricuspid valves.
 cleft in the anteriorleaflet of the mitral valve .
The ventricular septum is intact.

35. b. Co m ple te AVse ptalde fe ct, also known as an
AV canal defect or an endocardial cushion defect:
- Ostium primum defect
- Absence of AV septum
- ventricular septal defects with markedly
abnormal AV valves.
The severity of the valve abnormalities varies
considerably; in the complete form of AV septal
defect, a sing le atrio ve ntricular valve is co m m o n to
both ventricles with a lateral leaflet in each

36. AV septal defect

37. AV septal defect

38. common in children with Down
syndrome

40. Pathophysiology
Partialatrio ve ntricular se ptalde fe ct.
 Basic abnormality: ostium primum and a left-to-
right shunt across the atrial defect and mitral.
 Shunt is usually moderate to large,
 The degree of mitral insufficiency is generally
mild to moderate,

41.  Pulmonary arterial pressure is typically normal
or only mildly increased.
>> The physiology is therefore similar to that of
an ostium secundum ASD.

42. Pathophysiology
Co m ple te atrio ve ntricular se ptalde fe ct.
 L-R shunt occurs at both the atrial and
ventricular levels.
 Additional shunting may occur directly from the
left ventricle to the right atrium because of
absence of the AV septum.
 Pulmonary hypertension and an early tendency
to increase pulmonary vascular resistance are
common.

43.  AV valvular insufficiency increases the volume
load on one or both ventricles.
 Some R-L shunting may also occur at both the
atrial and ventricular levels and lead to mild
arterial desaturation.
 With time, progressive pulmonary vascular
disease increases the right-to-left shunt so that
clinical cyanosis develops (Eisenmenger).

44. Clinicalm anife statio ns .
 Ostium primum defects: asymptomatic
(anomaly is discovered during a general
physical examination.
 Moderate shunts and mild mitral insufficiency,
the physical signs are similar to those of the
secundum ASD, but with an additional apical
murmur caused by mitral insufficiency.

45. Clinical manifestation…
A following history may be abtained:
 exercise intolerance,
 easy fatigability,
 recurrent pneumonia especially in infants with
large left-to-right shunts and severe mitral
insufficiency.

46. Complete AV septal defects:
 Heart failure and intercurrent pulmonary
infection in infancy with minimal cyanosis.
 Failure to thrive
 Enlarged liver

47.  Systolic murmur in the lower left sternal
border.
 2nd heart sound is widely split if the
pulmonary flow is massive and a pulmonary
systolic ejection murmur is produced by the
large pulmonary flow.
 Apical holosystolic murmur of mitral
insufficiency may also be present.

48. Diagnosis
 Chest X-ray in complete AV septal defects
often show:
- moderate to severe cardiac enlargement
caused by the prominence of both ventricles
and atria.
- large pulmonary artery and increased
pulmonary vascularity.

49. Diagnosis…
 ECG :
- QRS axis with left axis deviation to the left
upper or right upper quadrant,
- signs of biventricular hypertrophy or isolated
right ventricular hypertrophy,
- right ventricular conduction delay (RSR′ pattern
in leads V3 and V1),
- normal or tall P waves, and occasional
prolongation of the P-R interval .

50. Diagnosis…
 Echocardiogram confirms the diagnosis
 Cardiac catheterisation: rarely indicated

51. Treatment
 Medical treatment as large VSD
 Surgical repair because of the risk of
pulmonary vascularobstructive disease
developing as early as 6–12 mo of age,
 Correction in infancy (3-6 months),
 Palliation with pulmonary arterial banding:
patients who have other associated lesions
that make early corrective surgery too risky.

52. 4. PATENT DUCTUS ARTERIOSUS

53. PATENT DUCTUS ARTERIOSUS
 Etiologies:
- Prematurity
- Congenital rubella
- Higher altitude

54. Anatomy
 Ductus arteriosus connects the origin of the
left main pulmonary to the aorta, just below
the left subclavian artery.
 The ductus closes through muscular
constriction a few hours after birth.

56. Physiology
Excessive blood flow to the lungs, left atrium, left
ventricle and ascending aorta with
enlargement of this structures in proportion to
the size of left-to-right shunt.

57. Clinical manifestations: L-R shunting
 Tachypnea,
 Dypnea with intercostals or subcostal retractions,
 Hepatomegaly
 growth failure
 prominent arterial pulsations (present when large
ductus arteriosus).

58. Investigations
 EKG : shows LV hypetrophy
 Chest X-Ray: cardiomegaly and enlargement
of pulmonary vessels
 Echocardiography: confirms the diagnosis

59. Investigations…
 Cardiac catheterization: necessary in case of
uncertain diagnostic and for studying
pulmonary resistance response to
vasodilatators (oxygen and nitric oxide).
 Used also for transcutaneous closure by
devices

62. Ste nting o f narro we d PDAto the patie nt pre se nting
se ve re cyano sis o n PAVSD.

63. Ductus arteriosus in premature Infants
 Fonctional closure of the ductus arteriosus
occurs in some 90% of full-term newborns
within a couple of days.
 In premature infants: ductus persists in many
with those of clinical significance being more
common in the smallest babies, with
respiratory distress syndrome.

64.  Maternal rubella is among etiologies of patent
ductus arteriosus.
Treatment:
 Indomathacine or ibuprofen
 Surgical ligation or closure

65. OTHER L to R shunts

70. COARCTATION OF AORTA
 Def: obstruction in the descending aorta
located almost invariably at the insertion of the
ductus arteriosus.
 Represents about 6% of congenital heart
diseases.
 The diagnosis is essentially clinic, based on
the absence or weakness of femoral pulse
compared to humeral ones.

71. Coarctation of Aorta
 Neonates with severe coarctation of the aorta
may present very ill with sudden onset of heart
failure within weeks of birth after closure of
ductus arteriosus.
 The frequent malformation in coarctation of
aorta is Turnersyndrome (20%).

73. Clinical manifestations
 Signs of heart failure in case of severe
coarctation (before the 14th
day of life) with
tachypnea, tachycardia, pulseless and acidosis.
 Decreased or absence of femoral pulses,
hypertension, decreased BP in lower limbs.
 Sub-clavian systolic murmur irradiating to the
back.

74. Investigations
 Chest X-ray: normal in most of the cases
 ECG: LV hypertrophy
 Echocardiography: confirmation of the obstacle
with Doppler and assessment of the LV
contractility.
 CT scan and RMI in big child

75. Management
 A severe coarctation of aorta with signs of
heart failure is a surgical emergency (Crafoord
intervention).

76. PULMONARY VALVAR STENOSIS
 Accounts for 7–10% of all congenital heart
defects.
 Pulmonary stenosis as a result of valve
dysplasia is the most common cardiac
abnormality in Noonan syndrome

77. Pathophysiology
 The obstruction to outflow from RV to the
pulmonary artery:
increased systolic pressure and wall
stress, leads to hypertrophy of the RV
 Severity of these abnormalities depends on
the size of the restricted valve opening.

78. Clinical manifestations
 moderate stenosis usually do not have any
symptoms.
 stenosis is severe, signs of right ventricular
failure such as:
 Hepatomegaly ( with hepatojugular reflux in older
children)
 peripheral edema,

79. Clinical manifestations…
- exercise intolerance may be present
- loud, long, and harsh systolic ejection
murmur: usually accompanied by a thrill, is
maximally audible in the pulmonic area
 In a neonate or young infant with critical
pulmonic stenosis, signs of RV failure may be
more prominent, and cyanosis is often present
because of shunting at the foramen ovale.

80. Investigations:
 Electrocardiogram: RVH and tall P wave.
 Radiography: cardiac enlargement. Prominence
of the main pulmonary artery segment may be
seen. Intrapulmonary vascularity is decreased.
 Echocardiogram shows severe deformity of the
pulmonary valve and right ventricular hypertrophy.
 Cardiac catheterization for balloon valvuloplasty
procedure.

81. Treatment
 Balloon valvuloplasty
 Surgery intervention for Noonan syndrom
(severily thickened valves)

83. CYANOTIC HEART DISEASES

84. TETRALOGY OF FALLOT
Cyanotic congenital heart malformation
comprising:
 infundibular pulmonary stenosis,
 conoventricular septal defect(VSD),
 dextroposition of the aorta such the aortic root
overrides the crest of the ventricular septum
 RV hypertrophy.

86. Tetralogy of Fallot…
 Most common cyanotic cardiac defect with an
incidence of 3.26 per 10.000 live births.
 Patients with TOF present sometimes
chromosomal abnormalities (22q11.2
microdeletion).

87. Di Georges Syndrom

88. Physiology
 Cyanosis due to R-L shunt at the ventricular
level.
 The volume of the ventricular R-L shunt, and
hence the degree of cyanosis, is directly
proportional to the severity of right ventricular
outflow obstruction.

89. Pathophysiology…
 Neonates with very mild obstruction of the
infundibulum may have normal systemic
arterial oxygen saturation and are said “pink
tetralogy”.
 There is a tendency in the TOF for
subpulmonary obstruction, and hence
cyanosis, to increase as the children grow.

90. Pathophysiology…
 Dynamic factors may serve to further
compromise pulmonary blood flow, increase R-L
shunting, and worsen cyanosis in TOF.
 Spasm of the sub-pulmonary infundibulum will
have such effect, as will increase in pulmonary
vascular resistance (crying) or decrease in
systemic vascular resistance (exercise).
 Catecholamine stimulation of RV mechano-
receptors has also been postulated to increase
R-L shunting = hype rcyano tic spe lls.

91. Clinical manifestations
 Cyanosis (in function of the RV outflow
obstruction, may be inapparent in neonate),
increasing with growth.
 Systolic ejection murmur of pulmonary stenosis
 Chronic cyanosis is associated with clubbing
fingers and toes, may also cause delayed
physical growth and diminished cognitive
function.

92.  Hypercyanotic spells: hallmark of tetralogy of Fallot!
o In a typical spell, the child becomes distressed and inconsolable, without
apparent reason, most often in the morning. Older children adopt
“squatting” position to compensate the malaise.
o Crying is associated with progressively deeper cyanosis and hyperpnea,
o Auscultation during the spell reveals a notably diminished or even absent
murmur.
o Not infrequently, the spell terminates with unconsciousness and, rarely,
convulsions.
o If the hypoxemia is extreme, permanent neurologic sequelae and even
death may occur.
Clinical manifestations…

93. Investigations
 ECG: shows RVH and right axis deviation
 Chest X-ray: normal heart size, decreased
pulmonary vascularity. The apex of the heart is
often elevated owing to RV hypertrophy with
aspect «boot shape” or ”Coeur en sabot”.
 Absence of thymus shadow in the newborn
indicate associated DiGeorge syndrome.

95. Investigations…
 Echocardiography: confirms the diagnosis and
associated lesions.
 Cardiac catheterization: limited indications in
case of pulmonary atresia, abnormal coronary
artery.

96. Complications
 Cerebral thrombosis : common in extreme
polycythemia and dehydration.
 Brain abcess
 Bacterial endocarditis

97. Management:
 Preventive treatment: Iron to prevent
microcytosis
 Hypercyanotic spells:
 Position of infant on abdomen in a knee-chest position
 O2
 Rehydration with colloid
 Morphine sulfate SC or IM only if a ventilator is
available
 Propranolol IV 0.1mg/kg slow
 Sodium bicarbonate 8.5% IV slow to correct acidosis
 Oral propranolol 0.5mg/kg 4 times/day for
maintenance.

98. Management…
 Surgical repair between 3-6 months but
indication if the patient presents hypercyanotic
spells.
 Rare newborns with critical RV outflow
obstruction and inadequate aorto-pulmonary
collaterals may be ductus arteriosus
dependent and require prostaglandin E1
before a Blalock Taussig shunt.

99. Balock Taussig Shunt

101. D-TRANSPOSITION OF GREAT
ARTERIES
 D-TGA with an intact ventricular septum is also
referred to as simple TGA or isolated TGA.
 Before birth, oxygenation of the fetus is nearly
normal,
 After birth, once the ductus begins to close,
blood via the FO usually insufficient and severe
hypoxemia ensues, generally within the 1st few
days of life.

103. CLINICAL MANIFESTATIONS
 Cyanosis and tachypnea are most often
recognized within the 1st hrs or days of life.
 Hypoxemia is usually severe, but heart failure
is less common.

104. Clinical manifestations…
 Medical emergency, only early diagnosis and
appropriate intervention can avert the
development of prolonged severe hypoxemia
and acidosis, which lead to death.
 Physical findings associated with cyanosis
may be nonspecific (no murmur).

105. Investigations.
 ECG : neonatal right-sided dominant pattern.
 Roentgenograms of the chest may show mild
cardiomegaly, a narrow mediastinum (hence an
“egg-shaped” heart, generally normal in early
newborn.
 Echocardiography confirms the transposed
ventricular-arterial connections and associated
lesions.
 Cardiac catheterization: in patients who require

107. Treatment
 Infusion of prostaglandin E1 to maintain
patency of the ductus arteriosus and improve
oxygenation
 Rashkind balloon atrial septostomy.
 Arterial switch (Jantene operation) is
performed within the 1st 2 wk of life.

108. Rashkind m ane uve r and ste nting o f ASD to the patie nt adm itte d with
se ve re cyano tic he art dise ase (be fo re surg e ry).

109. Surgery: Arterial switch

110. OTHER CYANOTIC CHD

112. Pulmonary atresia