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)
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.
13. 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.
14. 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
15. 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’
16. 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
19. 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)
20. 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 .. ?
22. 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.
24. 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
25. 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)
26. 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
30. 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.
31. 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.
33. 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%).
34. 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.
35. 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
38. 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
39. 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
40. 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
41. 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
42. 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)
44. AS
Valvular, subvalvular
or supravulvalar
Failure of :
development of the
three leaflets
Resorption of tissue
around the valve
45. 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
46. 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.
48. 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
49. 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
50. 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
51. 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
52. 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
55. 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
56. 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)
57. 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
58. 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
59. 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
60. 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.
62. 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
No definite etiological factors can be identified in the vast majority of children and the disease is believed to be multifactorial in origin
Abnormal communication between the right and the left side of the heart
Pressure is greater on the left side> blood flows from the left to right side of the heart
Excess blood entering the lungs > pulmonary congestion (symptoms like breathlessness, feeding difficulty, recurrent chest infections
Foramen ovale > enable the fetal heart to transport the oxygenated umbilical venous blood to the left side of the heart
- Fixed splitting> due to overload of the right ventricle with prolonged ejection into the pulmonary trunk >right ventricular SV equal in both inspiration and expiration
Ejection systolic murmur > due to increased flow to the RV because of the shunt
Mid-diastolic murmur at the left lower sternal border > because of increased volume passing across the tricuspid valve
Non-specific features
Mid diastolic murmur> increase the flow across the mitral valve
Palpable P2 > pulmonary HTN
Parasternal heave: indicate right vetricular enlargement or left atrial enlargement.
X-ray> enlargment of left ventricle+ may be right ventricle( because of pulmonary hypertention due to increased flow/ increased pulmonary vascular resistance)
ACE inhibitors> captopril
Some VSDs especially muscular defect can be closed with devices placed at cardiac catheterization
Best age of surgical closure is 6-12 monthes
Widened pulse pressure> after the infants pulmonary vascular resistance falls the PDA cause continuous runoff of aortic blood into the pulmonary artery > decrease in aortic diastolic and mean arterial pressure> widening of pulse pressure
* Increased flow across the mitral valve > mid-diastolic murmur at the apex
The ductus arteroisus may provide the vital accessory route for perfusing the lungs in infant
When pulmonary stenosis is extreme > increased pressure in the right side> delay the closure of the foramen ovale
Upright T wave in V1 indicate RVH in children
Pulse delay > due to blood bypassing the obstruction via collateral vessels in the chest wall and hence the pulse in the legs is delayed.
Normally the systolic BP in the legs is 10-20 mmHg higher than the arm.
Rib –notching > due to the development of large collateral intercostal arteries running under the ribs posteriorly to bypass the obstruction
10% of all CHD
Blue baby
Infants initially may be acyanotic > if the PS become more severe the amount of right –to- left shunt at the VSD will increase > more cyanotic
hyper-cyanotic spells = tet spells
Crying , feeding, defecating> increase the pulmonary vascular resistance > increase right-to- left shunt> decrease pulmonary blood flow
squatting : sitting with bent hip and knee joints> help to increase systemic vascular resistance > promoting pulmonary blood flow
Placing child in the knee-chest position > increase systemic vascular resistance
Pulmonary oligemia> due to reduced pulmonary blood flow