CONGENITAL HEART

DISEASES
Iman Sulaiman Al-Hatmi
: Done by
85569
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
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.
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.
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)
Circulatory changes at birth

:In the fetus

Circulatory changes at birth

:With 1st breaths

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
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 higher than
reported from other countries.
 Age at diagnosis was under 1 month in 38% and 1-12 months in
40%.
 Cyanotic CHD was 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.
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
Presentation
 Antenatal cardiac ultrasound diagnosis
 Heart murmur (most common)
 Cyanosis
 Heart failure
 Shock (severe L heart obstruction)
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.
.Cont

7 S’s :
 Hallmarks of inno c e nt ejection
murmur:
Soft (low
amplitude)
 Soft blowing systolic ( usually from R
side pulmonary outflow in 2nd L
Short interspace) OR short buzzing ( usually
from L side aortic blood flow in 4th L
Systolic
interspace)
Single (no  Localized to L sternal edge
click/gallop)  No diastolic component

Sensitive (to  Normal heart sound with no added

posture) sounds
 No parasternal thrill
left Sternal edge
 No radiation
aSymptomatic  Asymptomatic pt
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’
 Left- to –right shunt-1
Classification •Ventricular septal defect (VSD)
•Persistant ducus arteriosus
(PDA)
•Atrial septal defect(ASD)
•Atrioventricular septal defect
AVSD(endocardial cushion
defect)
Obstructive lesions-2
Acyanotic •Pulmonary stenosis (PS)
Acyanotic •Aortic stenosis (AS)
•Coarctation of the aorta (COA)

Cyanotic (right-to-left
(shunt
•Teratology of fallot
•Transposition of great artieries
Cyanotic
Cyanotic •Truncus arteriosus
•Tricuspid atresia
•Total anomalous pulmonary
venous drainage
 Left-to-right shunt

breathlessness,
feeding difficulty,
recurrent chest
infections
Atrial Septal Defect
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)
.Cont
 Symptoms:  Physical signs:
 Rarely symptomatic  Fixed splitting of S2 .. ?
 Recurrent chest  Ejection systolic
infections/wheeze murmur over the
 HF pulmonary area ..?
 Mid-diastolic murmur at
the left lower sternal
border .. ?
ASD.. Investigations
 Chest X-ray:
 Cardiomegaly
 Right atrial enlargement
 Enlarged pulmonary arteries
 Increased pulmonary vascular markings

 ECG:

 Croee-sectional echocardiography
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.
Ventricular Septal Defect
 Ventricular septal defect
 The most common CHD (30%)
 Occur when there is a defect
anywhere in the vetricular
Small
septum usually VSD
perimembranous (adjacent to
tricuspid valve)or muscular
septum.

 The size of the VSD affects the

clinical presentation
 Small VSD: smaller than aortic Large
valve, up to 3mm VSD
 Large VSD: same/bigger than aortic
valve.
Small VSD
Clinical features: Investigations:
Symptoms: •Chest X-ray:
 Asymptomatic -Normal
•ECG:
Physical signs: -Normal
 May have thrill at lower •Echocardiography:
sternal edge -Show the defect
 Loud pansystolic murmur - Doppler echocardiography
at lower left sternal edge 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)
 Large VSD

Clinical features: • Physical Signs:

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

Investigations: • ECG:
Chest X-ray: Enlarged
– Biventricular
pulm
 Cardiomegaly hypertrophy
arteries

 Enlarged pulmonary
• Echocardiogram:
arteries
– Demonstrates the
 Increased pulmonary
anatomy of the defect,
vascular marking Increased
pulm hemodynamic effects ,
 Pulmonary markings
severitycardiomegaly
of pulmonary
congestion hypertension.
.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
Patent Ductus Arteriosus
 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
mechanism of the duct.

 In preterm infants, the PDA is not from

CHD but due to prematurity.
.Cont
Clinical features: Investigation:
 Symptoms: Small PDA> normal X-ray and
 Small PDA: asymtomatic ECG
 Large PDA: HF  Large PDA:
Physical signs:  Chest X-ray:

 High volume collapsing pulse  Cardiomegaly

 Widened pulse pressure  Pulmonary congestion

 Loud S2  ECG:

 Continuous murmur (beneath  Left ventricular

left clavicle) hypertrophy

 If pulmonary HTN> right

Management: ventricular hypertrophy

 Echocardiography
Closure with a coil or occlusion device introduced via a cardiac
catheter at about 1 year of age.
Complete AV septal defect
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%).
.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.
 Summary.. L-to-R shunt

lesion Symptoms signs management

ASD-secundum None Ejection systolic Catheter device
murmur at ULSE closure at 3-5 yrs
ASD-partial None, HF Fixed split S2 Surgery at 3 yrs
VSD-small (80- None Pansystolic None
90%) murmur at LLSE
VSD-large(10- HF Loud P2, soft Diuretics, captopril
20%) murmur, Surgery at 3-6
tachypnoea, months
hepatomegaly
PDA-tem None Continous murmur Coil/device closure
at ULSE +/- at cardiac catheter
bounding pulses
PDA-preterm None, HF Systolic murmur at Fluid restriction,
ULSE +/- surgical ligation
bounding pulses
Outflow Obstruction
Pulmonary Stenosis
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

Pathophysiology

Pulmonary valve is
mildly to moderately
narrowed
The right ventricle pump
harder and at a higher
pressure to propel blood
through the valve
Right ventricular
hypertrophy
 severe stenosis in a
neonate

Right ventricle cannot eject sufficient volume of

blood flow into the pulmonary artery

Right ventricular pressure becomes extremely high

delay the closure of the foramen ovale

Lead to right-to-left shunting through a

patent foramen ovale/atrial septal
defect

cyanosi
s
.Cont
Clinical features:  Physical signs:
 Symptoms:  Ejection systolic
 Mild PS: murmur over the
asymptomatic
pulmonary area that
 Moderate- severe
PS: radiate to the back
 exertional dyspnea  Systolic thrill over
and easy fatigability. the pulmonary area
 Newborn with
 S2 widely splitting
severe stenosis
may be more  Left parasternal
symptomatic and
even cyanotic heave (RV
because of right-to- hypertrophy)
left shunting at the  Ejection click that
atrial level.
audible in inspiration
 .Cont
Investigations: Management:
Mild PS > normal X-ray and Indicated for moderate to severe
ECG cases
Severe PS: Treatment measures designed to
 Chest X-ray: maintain the patency of the ductus
 normal or post-stenotic arteriosus > used as palliative
measure to maintain or increase
dilatation of the main
pulmonary blood flow in infants with
pulmonary artery
sever pulmonary stenosis
- ECG:
 Trans-catheter balloon dilatation
 RVH
is the treatment of choice (when
pressure gradient across
pulmonary valve > 64mmHg)
Aortic stenosis
AS
 Valvular, subvalvular
or supravulvalar
 Failure of :
 development of the
three leaflets
 Resorption of tissue
around the valve
 .Cont
Clinical features: Physical signs:
Mild- moderate AS >  Ejection systolic
asymptomatic murmur over the
Severe AS: aortic area and
Symptoms: radiating to the neck
Easy fatigability  Carotid thrill

Excertional chest pain

(always)
 Apical ejection click
Syncope

Infants> symptoms of HF
.Cont
Investigations:
Managements:
 Chest x-ray:
 The degree of aortic stenosis
 Normal or prominent left frequently progress with growth
ventricle with post- and age > regular clinical and
stenotic dilation of the echocardiographic assessments.
ascending aorta Balloon valvotomy > children
 ECG: with Sx on exercise or who have
 LVH high resting pressure gradient
(>64mmHg) across aortic valve.
 Echocardiography
Balloon dilatation in older
children is safe, but in neonates
much more difficult & dangerous.
Coarctation of Aorta
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
.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
.Cont
Investigations: Managements:
CXR : rib notching with large Infants: intravenous
collaterals infusion of prostaglandin E1 ,
ECG: LVH inotropic agents, diuretics.
Balloon angioplasty and
stenting
Surgical repair
Summary

Lesion Signs Management

Aortic stenosis • Murmur: upper R Ballon dilatation
sternal edge
• carotid thrill
Pulmonary stenosis •Murmur: upper L Ballon dilatation
sternal edge
• no carotid thrill

Coarctation of aorta • systemic HPT Stent insertion or

•Radio-femoral delay surgery
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
Teratology of fallot
Teratology of fallot
 .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
.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)
 .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
 .Cont
Management:
Hypoxic spells:
  Occurance of cyanotic spell
 Oxygen administration indicate the need for surgical
intervention :
 Placing the child in the
 Complete surgical repair>
knee- chest position
VSD closure and removal or
 Morphine > to relaxe the
patching of the pulmonary
pulmonary infundibulum stenosis
and for sedation  Palliative shunt surgery>
 Alpha-adrenergic
between the subclavian
agonist> increase the artery and pulmonary artery
systemic vascular
resistance
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
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.
Infective endocarditis
prophylaxis
whom to give?
 In Yasmeen’s presentation of IE in medicine
^_~
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
Thank You