Embryological Basis for

Congenital Heart Diseases

Natasha Namuziya
 Epidemiology
• Incidence :
❖ 8/1000 live births
❖ 3-4/100 still born
❖ 2/100 premature infants excluding PDA
❖ 10-25/100 abortuses
• Most of congenital defects are well tolerated
during fetal life
 Etiology
• Unknown in most case
• Genetic factors single gene defect :
❖ Di George(22q11)
• Chromosomal abnormality :
❖ Down syndrome (50%) trisomy18 (90%)
• Environmental factors:
❖ Maternal diseases ( DM ),
Infection during pregnancy (Rubella)
❖ Drugs(alcohol ,thalidomide)
Obesity increases the risk of congenital heart
disease
• Gender differences in type of CHD
Causes of CHD
. Maternal disorders
. Maternal drugs
. Chromosomal abnormalities
Maternal disorders
. Rubella PDA
. SLE Heart block
. Diabetes mellitus HOCM
Maternal drugs
. Warfarin PDA
. FAS TOF
Chromosomal abnormalities
. Trisomy 21 AVSD
. Trisomy 18 Complex CHD
. Trisomy 13 Complex CHD
. Turners(45 XO) Coarctation of the aorta
. Di George Aortic abnormalities
Presentation of CHD
. Antenatal cardiac ultrasound scan
. Heart murmur
. Cyanosis
. Heart failure
. Shock
Antenatal diagnosis
. Foetal anomaly scan at 18-20/40
. Detailed foetal echography
Suspected trisomy 21
Previous child with CHD
Maternal CHD
. Family counselling
. Referral to a cardiac centre for those with
duct-dependent lesions
Heart murmur
. Most common presentation
. Beware of “innocent murmur”
Systolic
Localised
No radiation
Asymptomatic
Intensity varies with position
Louder during hyperdynamic states
Normal CXR, ECG and ECHO
Cyanosis
. Beware of peripheral cyanosis
. Central cyanosis
. Pulse oxymetry
. Cyanosis with respiratory distress may be due to
RDS
MAS
PPHN
SEPSIS
IEM
Cardiac cyanosis
. Reduced pulmonary blood flow
Duct-dependent systemic circulation
Cyanosis occurs when the duct closes
. HLHS
. Critical aortic valve stenosis
. Severe coarctation of the aorta
. Interrupted aortic arch
. Abnormal mixing of systemic venous and pulmonary
venous blood (cyanosis occurs on day 1 or 2)
. TGA
Hyperoxia (nitrogen washout) test
. Place the infant in 100% O2 for 10 minutes
. Check right radial PO2
If PO2 < 15 kPa , it is a cyanotic CHD
If PO2 > 20 kPa , it is not a cyanotic CHD
Immediate management of cyanotic CHD
. Airway
. Breathing (may need ventilation)
. Circulation (may be in shock)
. PGE to maintain duct patency
Heart failure (1)
. Symptoms
Breathlessness on feeding/exertion
Excessive sweating
Poor feeding
Recurrent chest infections
Heart failure (2)
Signs
. Failure to thrive
. Tachypnoea
. Tachycardia
. Murmur (may have gallop rhythm)
. Enlarged heart
. Hepatomegaly
. Cool peripheries
Progressive heart failure beyond the neonatal period
is mostly due to left to right shunts.
Shock
Left heart obstruction (duct-dependent systemic
circulation) in the neonatal period.
Closure of the duct leads to
. Severe acidosis
. Collapse
. Death unless duct patency is restored
Exclude
. Sepsis
. IEM
Diagnosis
. CXR
. ECG
. ECHO (with doppler ultrasound)
. Catheterisation
 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
•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 •Truncus arteriosus
•Tricuspid atresia
•Total anomalous pulmonary
venous drainage
 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.
Ventricular Septal Defect
 Ventricular septal defect
 The most common CHD (30%)
 Occur when there is a defect
anywhere in the vetricular
septum usually Small
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.
 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
Clinical features:
Symptoms:
Asymptomatic

Physical signs:
May have thrill at lower sternal edge
Loud pansystolic murmur at lower left sternal edge
Management:
• Most of these lesions will close spontaneously
by 3 years of age ( conformed by disappearance
Investigations:
of murmur, normal ECG, normal
echocardiogram)
•Chest X-ray: -Normal
 Large VSD
• Clinical features:
• Symptoms: (2-4 wks) • Physical Signs:
• HF with breathlessness, • -Soft pansystolic murmur
poor feeding, diaphoresis Left LSE or no murmur
& FTT • Apical –mid diastolic
• Recurrent chest infection murmur Loud and
palpable P2
• Left parasternal heave
• Tachypnea ,Tachycardia
• Enlarged liver
• Investigations: ECG:
Chest X-ray: – Biventricular
•Cardiomegaly Hypertrophy
•Enlarged pulmonary
Echocardiogram:
•arteries • NormaL/LVH.
•Increased pulmonary
•vascular marking
•Pulmonary
•congestion

cardiomegal
• 1/3 symptomatic

• 1/3 eisenmenger

• 1/3 infections
 VSD 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
• Repair needed if: Severe symptoms, PHTN or
Aortic regurgitation develops and persistant
significant shunting >10 yrs of age
Atrial Septal Defect
 ASD
• Due to failure of septal growth or
excessive reabsorption of tissue.
• 7-10% of CHD, M>F 2:1
• 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)
 ASD Cont...
Symptoms: Physical signs:
• Rarely symptomatic • Fixed wide splitting
• Recurrent chest of S2.
infections/wheeze • Ejection systolic
• HF murmur over the
pulmonary area.
Upper-LSE
• Mid-diastolic
murmur at the left
lower sternal border
 ASD Cont...
Chest X-ray:
🡲 Cardiomegaly
🡲 Right atrial enlargement
🡲 Enlarged pulmonary arteries
🡲 Increased pulmonary vascular
markings

• ECG:
🡲 RAD, RBBB, RVH
 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.
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.
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:
 Cardiomegaly

High volume collapsing pulse
 Pulmonary congestion
 Widened pulse pressure
ECG:
Loud S2 

 Left ventricular
Continuous murmur (beneath
 hypertrophy
left clavicle)
 If pulmonary HTN> right
ventricular hypertrophy
Management:

 Closure with a coil or occlusion device introduced via a cardiac
catheter at about 1 year 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
.Cont
Clinical features:  Physical signs:

Symptoms: 
Ejection systolic

Mild PS: murmur over the
asymptomatic
pulmonary area that

Moderate- severe
PS: radiate to the back.
 Systolic thrill over
 exertional dyspnea
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
dilatation of the main measure to maintain or increase
pulmonary artery pulmonary blood flow in infants with
sever pulmonary stenosis
- ECG:
 RVH
 Trans-catheter balloon dilatation
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
 Carotid thrill

Easy fatigability
(always)
Excertional chest pain
 Apical ejection click
Syncope
Paradoxical splitting of
Infants> symptoms of HF
 S2 and Soft A2
Duct dependent circulation
.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
•  Mitral valve anomaly
•  Turners (25%)
• Berry Aneurysm
 .Cont
Clinical features:  Physical signs:
 Symptoms: 
Radio-femoraldelay

Less severe: no symptoms 
Weak pulse in the lower
 In severe cases the blood extremities
supply to the descending 
Bounding pulse of the arms
aorta comes through ductus and carotid vessels.
arteriosus> when it close in 
Fall in systolic BP in the
the first week of life baby lower extremities compared
present with shock, to the upper extremities.
respiratory distress & poor  Systemic HTN in the upper
feeding. extremities

HF in neonatal period 
Loud aortic S2

Older children are usually Systolic ejection murmur


asymptomatic but may Systolic ejection click


present with leg discomfort
with Exercise intolerance, headache
 .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
 Associated Syndromes
• 30% of TOF have associated syndromes or
extracardiac anomalies
• Downs, DiGeorge, Alagille’s, CHARGE,
VACTERL
• Cleft lip and palate, hypospadius, and
vertebral anomalies more common in TOF
 Physiology
• Direction of flow through VSD depends on
severity of PS
• With moderate PS there is net L→R flow
• As PS increases there is bi-directional flow
• With severe PS there is net R→L flow
• Cardiac output is normal or increased
.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)
 Haematology
• Hb and Hct increased
• Normal Hb reflects a relative anaemia
– Decreased exercise tolerance
– Hypercyanotic spells
• As Hb increases
– Headaches and decreased exercise tolerance
– Deficiency of coagulation factors if Hct>65%
 Hypercyanotic Spells
• Also called “tet spells”
• More common in morning after awakening
• May be precipitated by exercise, hot baths
• Infant becomes irritable and cyanotic
• Respiratory rate increases
• If severe infant becomes pale and grey
• Last 15-30 minutes
 Physiology Of Tet-Spells
• Decreased pulmonary blood flow and increased L→R
shunting
• Secondary to increased RVOT obstruction
– Infundibular spasm
– Disappearance of murmur during spell
• Secondary to increased respiratory rate
– Causes increased CO and systemic venous return
– Pulmonary blood flow fixed so get increased L→R shunt
– This causes ↓PaO2, ↑PaCO2, and ↓pH which stimulate
respiration and the cycle perpetuates
 Exercise Tolerance
• Related to severity of PS
• If mild then ordinary activities well tolerated
• Exercise → ↓SVR and ↑CO → ↑ R→L shunt
• Dyspnoea more a feature than fatigability
 Squatting
• Common for older children to squat
• Increases PaO2
• Compression of femoral arteries increases SVR
• Decreased venous return of highly
unsaturated blood from legs
 CCF
• Not a part of TOF
• Rarely seen with very mild PS and large L→R
shunt or absent valve leaflets
 .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
 Medical Treatment
• Optimise Hb level
– Iron supplements if low
– Partial exchange if too high
• Bacterial endocarditis prophylaxis
– R→L shunt removes filter of pulmonary bed
– Can get cerebral abscesses
 Treatment Of Spells
• Oxygen
• Calm child
• Knee-chest position
• Morphine
– 0.2mg/kg IM
– Decreases agitation
– Negative inotropic effect on infundibulum
– Suppresses respiratory centre
 Treatment Of Spells
• Sodium bicarbonate
– 1mmol/kg
– Reduces respiratory stimulating effect of acidosis
• Propranolol
– 0.1mg/kg IV slow bolus
– 1-4mg/kg PO in 4 divided doses prophylaxis
– β-blocker reduces infundibular spasm and HR
 Treatment Of Spells
• Phenylephrine
– 0.02mg/kg IV
– Systemic vasoconstrictor
• Ketamine
– 1-3mg/kg IV
– Increases SVR and sedates infant
• General anaesthetic
 .Cont
Management:
 Hypoxic spells:  Occurance ofcyanotic spell
indicate the need for surgical

Oxygen administration
intervention :
 Placing the child in the
knee- chest position

Complete surgical repair>
Morphine > to relaxe the VSD closure and removal or

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 Blalock Taussig Shunt
resistance
 Surgery
• Palliative or definitive
• Primary repair if possible
• Indications
– Decreased exercise tolerance
– Hypercyanotic spells
– Increased Hb and Hct
– Attainment of appropriate age and size for elective
repair
Transposition of the Great Arteries (TGA)

• the aorta is connected to the right ventricle, and the pulmonary

artery is connected to the left ventricle
• Oxygen-poor (blue) blood returns to the right atrium from the
body  passes through the right atrium and ventricle,  into the
misconnected aorta back to the body.

• Oxygen-rich (red) blood returns to the left atrium from the lungs
passes through the left atrium and ventricle, into the
pulmonary artery and back to the lungs.

• Other heart defects are often associated with TGA

- atrial or ventricular septal defect

- may be necessary in order for the infant with TGA to survive

- Allow mixing of blood – providing at least smaller amounts of
oxygen to the body
 Signs and Symptoms

• Cyanosis soon after delivery

• rapid breathing
• labored breathing
• rapid heart rate
• murmur
• cool, clammy skin
 Treatment
• admitted to the NICU, placed on oxygen, and possibly even on a
ventilator, IV medications to help the heart and lungs function
more efficiently.

• a cardiac catheterization procedure will usually be performed to

evaluate the defect(s) and the amount of blood that is mixing.
• as part of the cardiac catheterization, a balloon atrial septostomy
may be performed to improve mixing of oxygen-rich (red) and
oxygen-poor (blue) blood.
– A catheter with a balloon in the tip is used to create an opening in
the atrial septum
– The catheter is guided through the foramen ovale (a small opening
present in the atrial septum that closes shortly after birth) and into
the left atrium.
– The balloon is inflated.
– The catheter is quickly pulled back through the hole, into the right
 Treatment
• An IV prostaglandin E1 is given to keep the ductus arteriosus from
closing.
Within the first 1 to 2 weeks of age, TGA is surgically repaired.
The “switch” operation is performed under GA, and involves the ff:

• The aorta is moved from the right ventricle to its normal position
over the left ventricle.
• The pulmonary artery is moved from the left ventricle to its normal
position over the right ventricle.
• The coronary arteries are moved so they will originate from the
aorta and take oxygen-rich (red) blood to the heart muscle.
• Other defects, such as atrial or ventricular septal defects or a
patent ductus arteriosus, are commonly closed.
 Tricuspid Atresia

• In this condition, there is no tricuspid valve, therefore, no

blood flows from the right atrium to the right ventricle.
• Blood in right atrium 🡲 foramen ovale 🡲 left atrium and left
ventricle 🡲 aorta
• Tricuspid atresia defect is characterized by the following:
– a small right ventricle
– a large left ventricle

– Small VSD and PDA

– diminished pulmonary circulation
– cyanosis - bluish color of the skin and mucous membranes
caused from a lack of oxygen.

• A surgical shunting procedure is often necessary to increase

the blood flow to the lungs.
Truncus
arteriosus
There is a
 common arterial
trunk. The truncal
valve is often very
abnormal.
Presents with
cyanosis and
heart failure in the
first few weeks, as
pulmonary
vascular
resistance falls.
Totally anomalous pulmonary venous drainage

 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.
 Anomalies of position of the
heart
• Dextrocardia
• occurs if heart tube bends to the left instead
of the right, the heart is displaced to the
right, all the chambers of the heart and
associated blood vessels are reversed as a
mirror image
• associated with situs inversus
(transposition of abdominal
viscera).
 Anomalies of position of the
heart
Ectopia cordis
• rare condition
• heart lies exposed on the
surface of the thorax.
• occurs due to nonunion of
two sternal plates of
developing sternum.
• Death occurs in most of
the cases during first
few days of the birth.
CXR
Shunts
 Cardiac Anomalies
Cyanotic CHD (R →L) Acyanotic CHD(L →R)
Tetralogy of Fallot (TOF) Atrial septal defects(ASD)
Tricuspid atresia (TA) Ventricular septal defects(VSD)

Total anomalous pulmonary AV canal defects

venous return (TAPVR)
Truncus arteriosus Coarctation of aorta
Transposition of the great Aortic stenosis
vessels
Hypoplastic left heart syndrome Patent ductus arteriosus
(HLH)
Pulmonary atresia (PA) / critical
PS
PS Double outlet right ventricle
(DORV)
 Golden facts to remember
Most common congenital Ventricular septal defect
anomaly of the heart
Ventricular septal defect membranous part of the
is most common in IV septum
Most significant atrial ostium secundum defect
septal defect
Most common congenital Fallot’s tetralogy
cyanotic heart disease
Most common positional Dextrocardia
anomaly of the heart
 References
• Robert M. Kliegman, Karen J. Marcdane(2006)
Nelson Essentials of Pediatrics, 5th Edition
Elsevier saunders
• Robert M. Kliegman (2007) Nelsons Texbook
of Paediatrics 19th Edition Elsevier saunders
• 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.
Thank You