1.
CONGENITAL HEART
DISEASES
Iman Sulaiman Al-Hatmi
85569
Done by:

2.
Objectives
 Classification of CHD
 Pathophysiological changes in circulation that
occurs after birth
 Innocent murmur vs. pathological murmur
 Maternal illness that can result in CHD
 Appropriate investigations
 Management options
 Indications for infective endocarditis prophylaxis

3.
Case Scenario
A 5-year old boy brought by his mother to the
health center for pre school check up.
The child has bee seen previously in the health
center for immunization and for minor acute
respiratory infection.
At this visit the physical examination reveals a
systolic murmur for the first time.

4.
History
 Cardinal cardiac symptoms: congestive heart failure
(FTT, breathlesness, poor feeding, cyanosis, sweating,
syncope …)
 PMH: rheumatic fever, recurrent chest infections
 FHx: of hypertrophic cardiomyopathy, congenital heart
disease or unexplained childhood/early adulthood death
is of importance.
 Perinatal Hx: of premature birth, maternal diabetes,
drug or toxin ingestion and intrauterine infection is
relevant.

5.
Physical Examination
 Dysmorphism and congenital anomalies. Presence of
anomalies of other organ systems associated with CHD in as many as 25%
of cases.
 Child's growth and development
 CVS:
 Cyanosis, cool periphries. arterial pulse, perfusion, delay , BP, HR,
edema
 Precordiam:
 Inspection, palpation
 Auscultation in the four different areas ( heart sounds, murmurs, and
for additional sounds, clicks)
 A crucial in children is to characterise the second heart sound and its
components.
 Auscultation over the back, the axillae and the neck.
 Variations of murmurs and heart sounds with position (supine, sitting,
standing)

6.
Circulatory changes at birth
In the fetus:

7.
Circulatory changes at birth
With 1st
breaths:

8.
Definition
 CHD: group of anatomic
abnormalities of the heart that are
generally present at birth.
 Ranges from asymptomatic to fatal
 The most common group of structural
malformations in children.
 Occur in 8 per 1000 births

9.
Incidence and spectrum of congenital
heart disease in Oman
 Hospital-based study analysed the incidence and spectrum of
congenital heart disease (CHD) in the Sultanate of Oman from
1994 to 1996.
 CHD was detected in 992 of 139,707 live births (incidence 7.1/1000
live births).
 The common CHDs were VSD(24.9%), ASD(14.4%) and PDA
(10.3%).
 The frequency of AV septal defects (5.9%) was higherthan
reported from other countries.
 Age at diagnosis was under 1 month in 38% and 1-12 months in
40%.
 Cyanotic CHDwas found in 21.7% of the whole group and 35% of
neonates. Incidence and spectrum of congenital heart disease in Oman.
Subramanyan R, Joy J, Venugopalan P, Sapru A, al Khusaiby SM.
Ann Trop Paediatr. 2000 Dec;20(4):337-41.

10.
Causes of CHD
Cause example
Maternal disorder Rubella infection
SLE
DM
Maternal drugs Warfarin therapy
Fetal alcohol syndrome
Sodium valproate
Phenytoin
Chromosomal abnormalities Down syndrome(trisomy 21)
Edward’s syndrome(trisomy 18)
Patau’s syndrome(trisomy 13)
Turner’s syndrome(45XO)
William’s syndrome
(chromosome 7 microdeletion)
Chromosome 22q11.2 deletion

11.
Presentation
 Antenatal cardiac ultrasound diagnosis
 Heart murmur (most common)
 Cyanosis
 Heart failure
 Shock (severe L heart obstruction)

12.
Heart murmurs
 Vast majority of children with murmurs have a normal
heart, ‘Innocent murmur’, from turbulent flow in great
vessels outflow tracts.
 2 types of innocent murmur:
 Ejection murmur
 turbulent blood flow in the ventricle, outflow tract or great
vessels
 not associated with structural abnormalities
 Venous hum
 turbulent blood flow in head & neck veins
 continuous low pitched rumble heard beneath either clavicle.
Increase on inspiration, louder after exercise.
 Distinguished from PDA by its disappearance on lying flat/ with
compression of jugular veins on same side.

13.
Cont.
7 S’s :
Soft (low
amplitude)
Short
Systolic
Single (no
click/gallop)
Sensitive (to
posture)
left Sternal edge
aSymptomatic
 Hallmarks of inno ce nt ejection
murmur:
 Soft blowing systolic ( usually from R
side pulmonary outflow in 2nd
L
interspace) OR short buzzing ( usually
from L side aortic blood flow in 4th
L
interspace)
 Localized to L sternal edge
 No diastolic component
 Normal heart sound with no added
sounds
 No parasternal thrill
 No radiation
 Asymptomatic pt

14.
Cyanosis
 Concentration of reduced Hb > 5 g/dL
 Cardiac cyanosis may be caused by:
 Reduced pulmonary blood flow
 Duct-dependent pulmonary circulation relies on blood flowing from L
to R across ductus arteriosus
 Abnormal mixing of systemic venous & pulmonary blood
(transposition of great arteries)
 Most infants with cyanotic heart disease in 1st
few days
of life are duct-dependent
 The key to early survival is Maintenance of
ductal patency with IV prostaglandin ‘PGE’

15.
Classification
AcyanoticAcyanotic
CyanoticCyanotic
1-Left- to –right shunt
•Ventricular septal defect (VSD)
•Persistant ducus arteriosus
(PDA)
•Atrial septal defect(ASD)
•Atrioventricular septal defect
AVSD(endocardial cushion
defect)
2-Obstructive lesions
•Pulmonary stenosis (PS)
•Aortic stenosis (AS)
•Coarctation of the aorta (COA)
Cyanotic (right-to-left
shunt(
•Teratology of fallot
•Transposition of great artieries
•Truncus arteriosus
•Tricuspid atresia
•Total anomalous pulmonary
venous drainage

16.
Left-to-right shunt
breathlessness,
feeding difficulty,
recurrent chest
infections

17.
Atrial Septal Defect

18.
ASD
Due to failure of septal growth or
excessive reabsorption of tissue.
2 main types:
Secundum ASD
 defect in the center of the atrial septum
involving the foramen ovale.
Partial AV septal defect (primum ASD)
 defect of the AV septum characterized by:
 An inter-atrial communication between the
bottom end of the atrial septum and the AV
valves (primum ASD)
 Abnormal AV valve which has 3 leaflets and
tend to leak ( regurgitant valve)

19.
Cont.
 Symptoms:
 Rarely symptomatic
 Recurrent chest
infections/wheeze
 HF
 Physical signs:
 Fixed splitting of S2 .. ?
 Ejection systolic
murmur over the
pulmonary area ..?
 Mid-diastolic murmur at
the left lower sternal
border .. ?

20.
ASD.. Investigations
 Chest X-ray:
 Cardiomegaly
 Right atrial enlargement
 Enlarged pulmonary arteries
 Increased pulmonary vascular markings
 ECG:
 Croee-sectional echocardiography

21.
ASD.. Management
 Children with significant ASD (shunt is still
present at around 3yr of age) will require
treatment :
 Secundum ASD by cardiac cathetrization with
insertion of an occlusion device
 Partial AVSD by surgical correction
Treatment undertaken at 3-5 yrs of age to
prevent RHF & arrhythmias in later life.

22.
Ventricular Septal Defect

23.
Ventricular septal defect
 The most common CHD (30%)
 Occur when there is a defect
anywhere in the vetricular
septum usually
perimembranous (adjacent to
tricuspid valve)or muscular
septum.
 The size of the VSD affects the
clinical presentation
 Small VSD: smaller than aortic
valve, up to 3mm
 Large VSD: same/bigger than aortic
valve.
Small
VSD
Large
VSD

24.
Small VSD
Clinical features:
Symptoms:
 Asymptomatic
Physical signs:
 May have thrill at lower
sternal edge
 Loud pansystolic murmur
at lower left sternal edge
Investigations:
•Chest X-ray:
-Normal
•ECG:
-Normal
•Echocardiography:
-Show the defect
- Doppler echocardiography
to asses the hemodynamic
effect
Management:
 Most of these lesions will close spontaneously by 3 years
of age ( conformed by disappearance of murmur, normal
ECG, normal echocardiogram)

25.
Large VSD
Clinical features:
Symptoms: ( 2-4 wks)
 HF with
breathlessness, poor
feeding, diaphoresis
& FTT
 Recurrent chest
infection
• Physical Signs:
-Soft pansystolic
murmur or no murmur
-Apical –mid diastolic
murmur
-Loud and palpable P2
-Left parasternal heave
-Tachypnea
,Tachycardia
-Enlarged liver

26.
Cont.
Investigations:
Chest X-ray:
 Cardiomegaly
 Enlarged pulmonary
arteries
 Increased pulmonary
vascular marking
 Pulmonary
congestion
• ECG:
– Biventricular
hypertrophy
• Echocardiogram:
– Demonstrates the
anatomy of the defect,
hemodynamic effects ,
severity of pulmonary
hypertension.
cardiomegaly
Increased
pulm
markings
Enlarged
pulm
arteries

27.
Cont.
Management:
 Anti-heart failure therapy: diuretics, digoxin,
ACE inhibitors
 If symptoms are controlled and pulmonary
HTN dose not develop> follow up
 Continued poor growth and pulmonary HTN
despite therapy > surgical closure

28.
Patent Ductus Arteriosus

29.
PDA
 The ductus arteriosus allows blood to
flow from the pulmonary artery to the
aorta during fetal life. This changes to
the opposite after birth.
 In term infants, it normally closes
shortly after birth. Failure of the normal
closure of it by a month post term is
due to a defect in the constrictor
mechanismof the duct.
 In preterm infants, the PDA is not from
CHD but due to prematurity.

30.
Cont.
Clinical features:
Symptoms:
 Small PDA: asymtomatic
 Large PDA: HF
Physical signs:
 High volume collapsing pulse
 Widened pulse pressure
 Loud S2
 Continuous murmur (beneath
left clavicle)
Investigation:
Small PDA> normal X-ray and
ECG
Large PDA:
 Chest X-ray:
 Cardiomegaly
 Pulmonary congestion
 ECG:
 Left ventricular
hypertrophy
 If pulmonary HTN> right
ventricular hypertrophy
 Echocardiography
Management:
Closure with a coil or occlusion device introduced via a cardiac
catheter at about 1 year of age.

31.
Complete AV septal defect

32.
cAVSD
 A combination of several closely
associated heart problems that
result in a large defect in the
center of the heart:
 Defects include holes such as
ASD, VSD and abnormalities of
the AV valves.
 Blood can move freely among
the four heart chambers, mixing
oxygen-rich (red) blood with
oxygen-poor (blue) blood.
 The condition is common in
children with Down syndrome
(about 20%).

33.
Cont.
Clinical features:
 Pulmonary HTN
 As the pressure in the lungs rises, blood within the heart will eventually
"shunt" through the septal openings from right heart to the left. This
allows oxygen-poor (blue) blood to reach the body, and cyanosis will be
noted.
Investigations:
Chest X-ray:
 Cardiomegaly with enlargement of all chamber
ECG:
 Superior axis
 Combined ventricular hypertrophy
Echocardiography
Treatment:
 Treat HF medically & surgical repair at 3-6 months of age.

34.
Summary.. L-to-R shunt
lesion Symptoms signs management
ASD-secundum None Ejection systolic
murmur at ULSE
Catheter device
closure at 3-5 yrs
ASD-partial None, HF Fixed split S2 Surgery at 3 yrs
VSD-small (80-
90%)
None Pansystolic
murmur at LLSE
None
VSD-large(10-
20%)
HF Loud P2, soft
murmur,
tachypnoea,
hepatomegaly
Diuretics, captopril
Surgery at 3-6
months
PDA-tem None Continous murmur
at ULSE +/-
bounding pulses
Coil/device closure
at cardiac catheter
PDA-preterm None, HF Systolic murmur at
ULSE +/-
bounding pulses
Fluid restriction,
surgical ligation

35.
Outflow Obstruction

36.
Pulmonary Stenosis

37.
PS
 Site: Valvar (most),
supravalvar, or
subvalvar
 The valve may have
only two or one leaflets
 The leaflets that are
partially fused together
 Three leaflets, but thick
and partly or completely
stuck together
narrowing of the valve

38.
Pathophysiology
The right ventricle pump
harder and at a higher
pressure to propel blood
through the valve
Right ventricular
hypertrophy
Pulmonary valve is
mildly to moderately
narrowed

39.
severe stenosis in a
neonate
Right ventricle cannot eject sufficient volume of
blood flow into the pulmonary artery
Right ventricular pressure becomes extremely high
cyanosi
s
Lead to right-to-left shunting through a
patent foramen ovale/atrial septal
defect
delay the closure of the foramen ovale

40.
Cont.
Clinical features:
 Symptoms:
 Mild PS:
asymptomatic
 Moderate- severe
PS:
 exertional dyspnea
and easy fatigability.
 Newborn with
severe stenosis
may be more
symptomatic and
even cyanotic
because of right-to-
left shunting at the
atrial level.
 Physical signs:
 Ejection systolic
murmur over the
pulmonary area that
radiate to the back
 Systolic thrill over
the pulmonary area
 S2 widely splitting
 Left parasternal
heave (RV
hypertrophy)
 Ejection click that
audible in inspiration

41.
Cont.
Investigations:
Mild PS > normal X-ray and
ECG
Severe PS:
 Chest X-ray:
 normal or post-stenotic
dilatation of the main
pulmonary artery
- ECG:
 RVH
Management:
Indicated for moderate to severe
cases
Treatment measures designed to
maintain the patency of the ductus
arteriosus > used as palliative
measure to maintain or increase
pulmonary blood flow in infants with
sever pulmonary stenosis
Trans-catheter balloon dilatation
is the treatment of choice (when
pressure gradient across
pulmonary valve > 64mmHg)

42.
Aortic stenosis

43.
AS
 Valvular, subvalvular
or supravulvalar
 Failure of :
 development of the
three leaflets
 Resorption of tissue
around the valve

44.
Cont.
Clinical features:
Mild- moderate AS >
asymptomatic
Severe AS:
Symptoms:
Easy fatigability
Excertional chest pain
Syncope
Infants> symptoms of HF
Physical signs:
 Ejection systolic
murmur over the
aortic area and
radiating to the neck
 Carotid thrill
(always)
 Apical ejection click

45.
Cont.
Investigations:
 Chest x-ray:
 Normal or prominent left
ventricle with post-
stenotic dilation of the
ascending aorta
 ECG:
 LVH
 Echocardiography
Managements:
The degree of aortic stenosis
frequently progress with growth
and age > regular clinical and
echocardiographic assessments.
Balloon valvotomy > children
with Sx on exercise or who have
high resting pressure gradient
(>64mmHg) across aortic valve.
Balloon dilatation in older
children is safe, but in neonates
much more difficult & dangerous.

46.
Coarctation of Aorta

47.
COA
 Narrowing of the aorta at the
junction of the arch with
descending aorta preductal or
postductal(98%).
 2X more common in males
 25% of patients with Turner’s
Syndrome
have coarctation of aorta
 Associated Defects:
 Bicuspid aortic valve (most
common
associated defect seen in 50%)
 VSD
 ASD

48.
Cont.
Clinical features:
Symptoms:
 Less severe: no symptoms
 In severe cases the blood
supply to the descending
aorta comes through ductus
arteriosus> when it close in
the first week of life baby
present with shock,
respiratory distress & poor
feeding.
 HF in neonatal period
 Older children are usually
asymptomatic but may
present with leg discomfort
with exercise , headache,
 Physical signs:
 Radio-femoral delay
 Weak pulse in the lower
extremities
 Bounding pulse of the arms
and carotid vessels.
 Fall in systolic BP in the
lower extremities compared
to the upper extremities.
 Systemic HTN in the upper
extremities
 Loud aortic S2
 Systolic ejection murmur
 Systolic ejection click

49.
Cont.
Investigations:
CXR : rib notching with large
collaterals
ECG: LVH
Managements:
Infants: intravenous
infusion of prostaglandin E1 ,
inotropic agents, diuretics.
Balloon angioplasty and
stenting
Surgical repair

50.
Summary
Lesion Signs Management
Aortic stenosis • Murmur: upper R
sternal edge
• carotid thrill
Ballon dilatation
Pulmonary stenosis •Murmur: upper L
sternal edge
• no carotid thrill
Ballon dilatation
Coarctation of aorta • systemic HPT
•Radio-femoral delay
Stent insertion or
surgery

51.
Cyanotic CHD
 Cyanotic (right-to-left shunt)
 Occurs when the systemic venous return
crosses from the right side to the left side of the
heart and returns to the body without going
through the lungs.
 Examples:
 Teratology of fallot
 Transposition of great artieries
 Truncus arteriosus
 Tricuspid atresia
 Total anomalous pulmonary venous drainage

52.
Teratology of fallot

53.
Teratology of fallot

54.
Cont.
Clinical features:
Symptoms:
 Vary widely (cyanosis) and depend mainly on the
severity of pulmonary stenosis.
 Infancy:
 cyanosis
 SOB on exertion (feeding )
 hyper-cyanotic spells : periods of increasing cyanosis
associated with inconsolable crying , fast breathing and
irritability (may lead to unconsciousness , anoxic seizures, MI,
cerebrovascular accidents, death)
 Older children: effort intolerance and squatting

55.
Cont.
 Physical signs:
 Central cyanosis
 Clubbing of the fingers and toes
 Loud harsh ejection systolic murmur initially
and then with increasing severity of pulmonary
stenosis the murmur become shorter and
softer.
 Single second heart sound (A2)

56.
Cont.
Investigations:
Chest X-ray:
 Boot-shaped heart ( caused by
small main pulmonary artery
and upturned apex secondary
to RVH)
 Pulmonary oligemia>
decreased pulmonary vascular
marking
ECG:
 RVH
 LAD
Echocardiography

57.
Cont.
Management:
Hypoxic spells:
 Oxygen administration
 Placing the child in the
knee- chest position
 Morphine > to relaxe the
pulmonary infundibulum
and for sedation
 Alpha-adrenergic
agonist> increase the
systemic vascular
resistance
 Occurance of cyanotic spell
indicate the need for surgical
intervention :
 Complete surgical repair>
VSD closure and removal or
patching of the pulmonary
stenosis
 Palliative shunt surgery>
between the subclavian
artery and pulmonary artery

58.
Truncus
arteriosus
 There is a
common arterial
trunk. The trunkal
valve is often very
abnormal.
Presents with
cyanosis and
heart failure in the
first few weeks, as
pulmonary
vascular

59.
Totally anomalous pulmonary venous drainage
(infradiaphragmatic(
 All four pulmonary
veins drain to the right
side. Below the
diaphragm they are
always obstructed.
Infant presents in first
days with cyanosis,
circulatory and
respiratory failure and
collapse.

60.
Infective endocarditis
prophylaxis
whom to give?
 In Yasmeen’s presentation of IE in medicine
^_~

61.
References
 Karen J, Robert M, Hal B , Richard E. Nelson
Essential of Pediatrics. 6th edition. P537- 543
 Joshi S, Wali Y. Practical Pediatrics.1st
edition.
P279-283
 Lissauer T, Clayden G. Illustrated textbook of
Pediatrics. 3rd
edition. P290-300
 Porth C. Essential of Pathophysiology. 2nd
edition. P 411-415

62.
Thank You