CONGENITAL HEART

DISEASES
• Cause of congenital heart disease
usually not known in individual cases.
• Evidence points to multifactorial
aetiology with insult probably
occurring in the first 8 weeks of
gestation.
• Most of the lesions are sporadic.
• Incidence is slightly higher in families
that include one member with such an
abnormality.
 CHD has been associated with several
different teratogenic factors:
• 1. Medications such as thalidomide, folic
acid antagonist, dextroamphetamine,
anticonvulsants, lithium and estrogens.
• 2. Excessive maternal alcohol ingestion.
• 3. Maternal infections e.g antenatal
rubella, cytomegalovirus and
coxsackievirus.
 TYPES OF CHD
• Can be divided into acyanotic and cyanotic
conditions.
• Acyanotic congenital heart diseases (VSD) :
1. Ventricular septal defect is communication
between ventricles.
. Is the commonest type.
. can be single or multiple defects.
. may be found anywhere along the
septum.
. commonest in the membranomuscular
portion.
 PATHOPHSIOLOGY
The amount of blood shunted is
determined by the size and resistance at
the defect.
• Small defects result in small shunts.
• In large defects, both the size and
direction of the shunt are determined
by resistance in the pulmonary and
systemic circuits.
• The shunt remain left to right as long
as pulmonary resistance is lower than
• If pulmonary vascular resistance rises
above systemic one the shunt reverses
to right to left.
• Large defects tend to result in
pulmonary hypertension.
• Pulmonary hypertension may lead to
the development of pulmonary vascular
disease called Eisenmenger syndrome.
• Patient becomes cyanosed.
 CLINCAL FEATURES
• If defect is small no symptoms.
• If large they present with recurrent chest
infections, dyspnoea, feeding difficulties,
profuse perspiration, growth failure and
cardiac failure early in infancy.
When reversal of shunt occurs they present
with
shortness of breath , dyspnoea on exertion,
chest pains
and cyanosis.
 DIAGNOSIS
a. Physical examination
• Systolic murmur louder left lower
sternal border.
• mid-diastolic murmur in a large VSD.
• As pulmonary vascular resistance
increases the diastolic murmur
disappears, systolic murmur becomes
shorter, diastolic murmur of pulmonary
valve insufficiency develops and P2
• In the presence of pulmonary vascular
obstructive disease, a right ventricular heave,
short systolic murmur and loud P2.

Investigations
• CxR may be normal in small defects.
Shows cardiomegally and increased vascular
markings.
• ECG normal in small defects
• ECG continues
• left atrium, left ventricular
hypertrophy or biventricular
hypertrophy.
• Right ventricular hypertrophy
predominates when pulmonary vascular
resistance become high.
•
 Echocardiogram
• Identify the lesion and determine
chamber size.
Cardiac catheterisation
• Measurement of intracardiac and
intravascular oxygen can define the
degree and direction of shunting.
• Pulmonary arterial pressure can be
measured.
 Therapy
• Treatment of heart failure when it
occurs.
• Treatment of infective endocarditis.
• Surgical management by closure of
lesion before pulmonary vascular
disease develops.
• Small VSD do not need surgical repair.
• Indications for surgical closure:;
• Any age when medical treatment has failed.
• Failure to thrive with severe symptoms.
• Age between 6-12 months with large defects
associated with pulmonary hypertension.
• Aortic regurgitation
• Persistent significant shunting > 10 yrs
• Severe pulmonary vascular disease is a
contraindication to surgery.
 PROGNOSIS /
COMPLICATIONS
NATURAL COURSE
• Depends on the size of the defect
• 30-50% of small defects close
spontaneously by first 2 years of life.
• Small muscular defects are more likely
• to close up to 80% than membranous
up to 35%.
• Vast majority of those defects which close do
so before age 4 years.
• However spontaneous closure has been
reported in adults.
• Children with small defects remain
asymptomatic
• May go into heart failure around 4-6 weeks
when pulmonary vascular resistance falls to
it’s lowest level.
• Recurrent chest infection and heart failure
• Other risk include development of aortic
regurgitation and infundibular pulmonary
stenosis.
• Long term risks include infective
endocarditis and in adults increased
incidence of arrhythmias, sub aortic
stenosis, exercise intolerance.
NOTE
• There is need for prophylaxis against
infective endocarditis when doing certain
PATENT DUCTUS ARTERIOSUS
• Ductus arteriosus connects pulmonary artery
and descending aorta.
• It is a left to right shunt.
• It varies in size.
• Left ventricle and left atrium are enlarged in
direct proportion to the magnitude of
shunting.
• Right ventricle only enlarged when pulmonary
hypertension develops.
•
 PATHOPHYSIOLOGY
• The direction of flow through a large PDA
depends on the relative resistances between
pulmonary and systemic circulation.

• As long as pulmonary resistance is lower than

systemic a left to right shunt continues.

• In large defects pulmonary vascular disease

may develop leading to reversal of shunt.
Eisenmenger complex.
 CLINICAL FEATURES
• Small defects causes no
symptoms.Commonest presentation.

• Large defects may result in CCF, growth

failure and repeated chest infections.

• Reversal of shunt present with shortness of

breath, dyspnoea on exertion and and
cyanosis.
 DIAGNOSIS
EXAMINATION
• Bounding pulses in large defects.
• Continuous murmur which begins with
S1, peaks with S2 and trails off in diastole.
• Loud P2 when pulmonary hypertension
develops. Investigations
• CxR shows normal heart size if defect
is small, cardiomegally if large and
increased pulmonary vascularity.
 ECG
• Normal if defect small.
• Left ventricle hypertrophy or
biventricular hypertrophy in large
defects.
• Right ventricle predominate in the
presence of pulmonary hypertension.
 Echocardiogram
• To visualize the lesion.

• Doppler demonstrates the direction of

flow.

Cardiac catheterization
 THERAPY
• Indomethacin is effective in closing the
duct in premature infants. MOA-
suppresses prostaglandin production
• Treatment of heart failure and bacteria
endoarteritis.
• Surgical intervention by ligation or
division of the ductus.
HYPOPLASTIC LEFT HEART
SYNDROME
• Characterised by underdevelopment of
the aortic root, aortic valve, left ventricle
and mitral valve.
• Aortic valve usually atretic
• Ascending Aorta measuring only a few
millimeters and coarctaction often
present.
• Right atrium and ventricle usually
dilated.
 PATHOPHYSIOLOGY
Systemic blood flow is ductus
dependent.
• There is a left to right shunt at atrial
level. Mixing of systemic and venous
return occur at this level.
• Because the pulmonary vascular
resistance is high, flow is directed
through the ductus to the aorta.
•
 CLINICAL FEATURES
• Evident in the first days of life.
• Severe symptoms of congestive cardiac
failure and vascular collapse occur as
the ductus arteriosus close.
 DIAGNOSIS
Examination
• Poor systemic perfusion is characterised
by mottling of the skin
• Pulses are poor or totally absent.
• Tarchypnoea, dyspnoea and grunting.
• Hepatomegaly , a gallop rhythm with
loud P2.
 Investigations
• CxR shows cardiomegally, often with
pulmonary congestion or oedema.
• ECG is normal for age.
• Echocardiogram is diagnostic. Defines
the configuration and size of the various
structures.
 THERAPY
• Medical management is palliative
directed at preserving systemic
perfusion.
• Prostaglandin E1 (PGE1) is infused to
maintain patency of the ductus.
• Corrective Surgery is not feasible.
• Some surgical procedures e.g Norwood
procedure has allowed some children to
survive infancy.
• This involves anastomosis of the main
pulmonary artery to the hypoplastic
aorta.
• Another possibility is neonatal cardiac
transplant.
COARCTATION OF THE
AORTA
• Accounts for about 8% of CHD.
• It is twice as common in males as it is in
females.
• When it occurs in females Turner
syndrome must be considered.
• The obstruction usually is located in the
descending aorta opposite the
ligamentum arteriosum.
• May coexist with tubular hypoplasia of
the aortic arch.
• Mitral valve stenosis and or
regurgitation may be present.
•
 PATHOPHYSIOLOGY
• Coarctation represents a mechanical
obstruction between the proximal and
distal aorta.
• The proximal aortic pressure and left
ventricular after load are elevated
• The distal aortic pressure is low.
• Collateral vessels usually involving the
internal mammary and the intercostal
arteries develop.
 CLINICAL FEATURES
Most children are asymptomatic.
• Congestive heart failure may develop in
infancy
• Leg cramps, headaches and chest
pains occur only rarely.
 DIAGNOSIS
Examination
• Weak, delayed or absent femoral pulses
compared with upper extremity pulses.
• Upper extremity hypertension.
• These signs may not be present in a new born
with a patent ductus arteriosus.
• Systolic murmur heard at the apex, left
sternal border, and interscapular area.
• Collateral pulsations are heard around the
scapula.
 INVESTIGATIONS
CxR
• in older children may show soft tissue
densities consisting of the aortic knob
and the dilated descending aorta
forming a “3”.

• Notching of fourth through to eighth

ribs caused by erosion from collateral
vessels. May be seen in children older
than five years.
• ECG may be normal or show left
ventricular hypertrophy.
• Echocardiogram coarctation can be
visualized.
• Therapy
• Treatment of hypertension may
necessary
• Surgical repair by resection and end to
end anastomosis, subclavian flap
 CYANOTIC CHD
• There is central cyanosis manifested as a
blue coloured tongue.
• Occurs when capillary deoxygenated
haemoglobin is > 3g per dl (100ml) of
blood.
• Can be difficult to detect clinically in the
presence of anaemia.
 Causes of central cyanosis
• Lung disease
• Cardiac disease
• Persistent pulmonary hypertension of
the newborn.
• Methaemoglobinaemia.
• Cyanotic CHD result from
• Right to left shunt with decreased
pulmonary flow e.g Tetralogy of fallot,
Tricusp atresia, Pulmonary atresia,
Ebstein anomaly or
• Abnormal blood mixing with normal or
increased pulmonary flow e.g
Transposition of great arteries, Total
anomalies of venous drainage and
• The nitrogen washout test used to
distinguish cardiac from respiratory
causes of central cyanosis.
• Baby is given > 90% of oxygen for
10mins to breath.
• If paO2 rises to >100 mmHg (14kPa)
the cause is respiratory.
• If no change the cause is cardiac.
TETRALOGY OF FALLOT
• Most common cyanotic heart disease.
• Has four many components:
1.Pulmonary stenosis.
2. Overriding aorta
3. Ventricular septal defect
4.Right ventricular hypertrophy.
• Hypoplasia of pulmonary arteries is often
present to varying degrees.
 PATHOPHYSIOLOGY
• There is a right to left shunt which
depends on the degree of the right
ventricular obstruction.
Clinical features
• Cyanosis present in the first few days of
life.
• Murmur detected at 1-2 months.
• Hypercyanotic spells late in infancy.
 Hypercyanotic spells
• Occur in the morning and on crying.
• Increasing cyanosis or pallor
• Acidosis and irritability
• Child assumes squatting position.
• Murmur becomes undetected due to no
flow through the pulmonary valve.
• The spells often are paroxysmal and
may be fatal.
• They are not necessarily related to the
severity of the obstruction.
 DIAGNOSIS
• Cyanosis is variable and may be absent.
(Acyanotic Tetralogy).
• Finger clubbing.
• Tarchypnoea at rest which is directly
related to the degree of cyanosis.
• Right ventricular heave is present.
• Single second heart sound.
• Systolic murmur in pulmonary area
 INVESTIGATIONS
CxR
• Heart size is normal.
• Boot shaped heart.
• Diminished pulmonary vascular
markings
ECG
• Right axis deviation
• Right ventricular hypertrophy
 Echocardiogram
• Demonstrates the lesions

Cardiac catheterization
•
 THERAPY
Cyanotic spells are treated by
1. Place child knee to chest position.
2. Morphine is given to depress the
respiratory centre.
3. Oxygen
4. Propranolol to reduce on infundibular
spasms and peripheral resistance.
5. Iv fluinds.
6. IPPV ( paralysed therefore oxygen demand is
less)
 Surgery
• Can be corrective surgery at 4-12
months.
• Palliative early surgery in the first few
months of life. Anastomose subclavian
artery to pulmonary artery.
• This is called Blalock Taussig shunt.
 COMPLICATIONS
• Metabolic acidosis.
• Polycythaemia which may lead to
cerebral thrombosis, embolism,
haemorrhage and cerebral abscess
formation.
• Infective endocarditis
• Myocardial infarction.
• Increased affinity for oxygen.