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CONGENITAL HEART DISEASES
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Types.
Acyanotic: VSD, PDA, ASD, AVSD, PS, CoA.
Cyanotic: ToF, TGA.
Types
b.
Right to left shunt: deoxygenated blood from the systemic
venous system is being directed back into the systemic circulation
without transiting the pulmonary vascular bed.
c.
All such defects are associated with the presence of a septal
defect coupled with additional abnormalities which alter the pressure
relationship between two sides of the heart.
1.
Congenital malformations affecting the heart and/or the great
vessels occur in a little under 1% of newborn infants.
d.
2.
i.
pulmonary flow is reduced due to obstruction to normal flow
into lung circulation and a septal defect behind obstruction through
which blood may shunt from right to left, e.g. tetralogy of Fallot.
Relative frequency of common congenital heart defects
Defect
Ventricular septal defect
Persistent ductus arteriosus
Atrial septal defect
Pulmonary stenosis
Aortic stenosis
Coarctation of aorta
Tetralogy of Fallot
Transposition of great arteries
Approximate frequency %
30
12
8
8
5
5
5
5
Three major subgroups exist:
ii.
bidirectional shunting is associated with very large
communications between the left and right sides of the heart with
free mixing of blood, e.g. single ventricle.
iii.
transposition of great arteries: the aorta and pulmonary
artery are connected to the wrong side of the heart and as a result
systemic venous blood is directed straight through into the systemic
circulation again.
3.
Acyanotic defects
4.
The major presenting features are:
a.
Comprise 75% of all congenital heart defects.
a.
Presence of an abnormal murmur.
b.
ASD.
Associated with an isolated left to right shunt, e.g. VSD,
b.
Development of symptoms or signs of congestive heart
failure.
c.
Those which are not associated with any shunting, in which
no septal defect is present, e.g. pulmonary stenosis.
4.
Cyanotic defects
a.
Comprise 25% of all congenital heart defects.
c.
Central cyanosis.
d.
Any combination of the above.
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Ventricular Septal Defect
1.
f.
If there is combination of PSM at LSE and MDM at apex and
after 6 months, the MDM disappears, this indicates:
Types:
i.
pulmonary hypertension is developing.
a.
Permembranous: defect is close to the membranous part of
the ventricular septum.
ii.
VSD getting smaller.
b.
Subarterial: beneath the aortic and pulmonary valve.
4.
Size of VSD and present signs
c.
Muscular: entirely enclosed in the muscular septum.
Small + moderate VSD with
L-to-R shunt
2.
Symptoms:
a.
Can be asymptomatic.
b.
Dyspnoea with easy tiring.
c.
Failure to thrive.
d.
Recurrent chest infections.
3.
Signs:
Large VSD with L-to-R
shunt
Large VSD with
bidirectional shunt +
pulmonary hypertension.
a.
Loud harsh PSM at lower left sternal edge frequently
associated with a thrill.
b.
P2 may be increased in pulmonary hypertension.
c.
MDM at apex due to increased flow through mitral valve.
5.
Natural history
a.
Spontaneous closure:
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Acyanotic, asymptomatic.
PSM.
No P2.
No MDM.
Acyanotic but symptomatic.
Hyperactive heart sounds.
PSM.
No P2.
MDM at apex.
Cyanosis.
Quiet praecordium.
No PSM.
P2 loud.
No MDM.
i.
variable rate.
d.
Atypical findings with a larger VSD: parasternal heave and
displaced apex beat.
ii.
as high as 60% by 5th year of life.
e.
VSD need not have PSM since there is no flow if the heart
contract and close the hole.
iii.
greatest number closed by 1 year, some by 5 year, few in
adulthood.
iv.
large VSD unlikely to close after 2 years.
2
b.
Complications:
i.
development of infundibular pulmonary stenosis to prevent
too much blood from entering the lungs.
ii.
progressive aortic incompetence when one leaflet of the
aortic valve prolapses into defect below valve.
7.
Management
a.
Treatment of cardiac failure.
b.
Echocardiography and cardiac catheterization:
i.
to establish diagnosis.
iii.
subacute bacterial endocarditis: 30 – 40% mortality.
ii.
determine severity.
iv.
recurrent chest infection.
iii.
explore and confirm associated lesions.
iv.
if pulmonary flow:systemic flow > 2:1, then operate.
v.
Eisenmenger’s syndrome developing in adolescence due to
rise in pulmonary vascular resistance leading to appearance of a
right to left shunt with cyanosis.
vi.
congestive cardiac failure.
c.
Death:
c.
Pulmonary artery banding in infancy: Dammann-Muffler
operation to decrease blood flow to lungs by 50%.
d.
Patch closure of VSD:
i.
done at 2 years.
i.
VSD die in infancy due to CCF or recurrent
bronchopneumonia.
ii.
surgery after body weight is greater than 10kg.
ii.
3% of VSD die later 1st year.
e.
SBE prophylaxis.
iii.
90% of death occur in infancy.
6.
Differentials
a.
PDA with pulmonary hypertension.
b.
AVSD.
c.
Infundibular pulmonary stenosis.
b.
Primum defects: low in the atrial septum and abut on the
atrioventricular valves, which are abnormal and often incompetent.
d.
Truncus arteriosus.
2.
Atrial Septal Defect
1.
Classification
a.
Secundum defects: found in the fossa ovale.
Symptoms
3
a.
Generally asymptomatic in childhood.
b.
Not detected until 5 years of age.
c.
Severity of lesion depends on:
i.
site of defect.
ii.
pressure gradient across defect.
d.
Large defect may present early with easy tiring, dyspnoea
and congestive cardiac failure.
3.
Signs
a.
Fixed and wide splitting of soft S2.
b.
ESM at pulmonary area due to high pulmonary flow.
c.
Right ventricular hypertrophy.
d.
Atrial arrhythmias.
6.
Associated defect
a.
Partial anomalous pulmonary-venous drainage usually with
sinus venous which make ASD larger.
b.
Mitral valve prolapse.
c.
AVSD.
d.
Marfan syndrome.
7.
Complications
a.
Congestive heart failure.
c.
Soft MDM at lower end of sternum, secondary to increased
tricuspid flow.
b.
Recurrent chest infection.
d.
Palpable parasternal heave.
c.
Pulmonary hypertension.
4.
Radiology
d.
SBE.
a.
Right heart enlargement.
e.
Paradoxical emboli: where emboli from right side of heart
enters systemic circulation via ASD.
b.
Plethoric lung fields.
c.
Prominent pulmonary artery with small aorta.
5.
ECG
a.
Right axis deviation.
a.
Cardiac catheterization only when pulmonary hypertension is
present.
b.
Right bundle branch block.
b.
f.
Atrial fibrillation and flutter.
8.
Management
Indication of operation:
4
i.
symptomatic large heart with large shunt.
d.
ii.
elevated pulmonary vascular resistance.
i.
includes a group of atrial septal defects low in thea trial
septum which abut on the atrioventricular valves and may involve the
upper part of the ventricular septum.
c.
Defect usually closed by direct suture, but may require
insertion of a patch or a self-expanding ‘double umbrella device
placed in the defect.
d.
Most require operation due to relatively safety of operation
and possible complications if no operation is done.
9.
Differentials
a.
Innocent murmur.
b.
Mild pulmonary stenosis.
c.
Partial AVSD.
d.
Aortic stenosis.
Incomplete AVSD:
ii.
when the ventricular septum is intact only an atrial
communication is present – ‘ostium primum ASD’ associated with
malformations of the mitral and tricuspid valves which are often
incompetent.
e.
Complete AVSD: commonly associated with Down’s
syndrome.
2.
Symptoms
a.
Early onset dyspnoea.
b.
Easy tiring.
c.
Feeding problems.
Atrioventricular Septal Defect
d.
Failure to thrive.
1.
e.
Chest infections.
f.
Cardiac failure.
g.
Mild or no cyanosis.
3.
Signs
a.
Split S2 with loud P2.
b.
ESM at pulmonary area.
Anatomy
a.
AV septum is the septum between the right atrium and the
left ventricle.
b.
AV septum consists of:
i.
anterior membranous part.
ii.
posterior muscular part.
c.
Shunting is from left ventricle to right atrium.
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c.
PSM.
d.
MDM at mitral area.
4.
Radiology
2.
Symptoms such as failure to thrive, dypsnoea and recurrent
chest infections are similar to those of a large VSD.
a.
Plethoric lung fields.
3.
Signs
b.
Right heart enlargement.
a.
Patients with a small PDA frequently remain asymptomatic.
c.
Left ventricular hypertrophy.
b.
Continuous machinery murmur audible at the upper left
sternal border.
5.
ECG
a.
Left axis deviation.
c.
In the presence of a large ductus, collapsing pulses are
frequently apparent.
b.
Right bundle branch block.
d.
The apex may be displaced and forceful.
6.
Management
e.
Presence of an apical mid-diastolic murmur.
a.
Treatment of cardiac failure in early infancy.
4.
Differentials
b.
Surgery after cardiac catheterization:
a.
Venous hum.
i.
pulmonary artery bands.
b.
VSD with AR.
ii.
closure of VSD with repair of mitral valve.
5.
Management
Patent ductus arteriosus
1.
b.
In the small premature infant, delayed closure of the ductus
often will occur after a period of weeks or months.
a.
In symptomatic premature infants, specific medical treatment
with indomethacin, which inhibits prostaglandin synthesis, may be
effective in promoting ductal constriction.
Pathology
a.
Failure of the ductus arteriosus to close normally in the
newborn period may be due to a congenital abnormality of the
ductus or to severe prematurity.
b.
However, drug treatment is not effective in mature infants
with a persistent ductus and in such patients, surgical intervention to
close the ductus is indicated.
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c.
This should be carried out at an early stage in symptomatic
patients but may be delayed until the second year of life.
4.
Differentials of ESM
a.
ASD.
b.
Innocent murmur.
c.
MVP.
5.
Differentials of thrill
Pulmonary stenosis
a.
ASD.
1.
Classification
b.
PDA.
a.
Valvular: 90% bicuspid / tricuspid.
c.
Coarctation or aorta.
b.
Subvalvular: 10% usually with Tetralogy of Fallot.
6.
Radiology
c.
Supravalvular: includes peripheral arterial stenosis, e.g. in
congenital rubella syndrome.
a.
Normal heart size.
d.
In such infants surgery is indicated to eliminate the risk of
infective endocarditis.
e.
‘Device closure’ by introduction of one or more embolization
‘coils’ or by placement of a ‘double umbrella device’ via a cardiac
catheter.
2.
May be asymptomatic, dyspnoeic or rarely cyanosis.
b.
Prominent pulmonary artery: abnormal convexity on the
upper left heart border just below the aortic knuckle.
3.
Signs
7.
a.
Parasternal heave.
a.
Mild pulmonary stenosis is a benign condition and is often
not progressive.
b.
ESM best heard at pulmonary area and radiating through to
the back and neck.
c.
Prognosis
b.
More severe pulmonary stenosis leads eventually to effort
intolerance, angina on exertion and cardiac failure.
Thrill at suprasternal notch.
d.
Ejection click at left sternal border: louder during expiration
and fades on inspiration.
c.
Rarely, severe pulmonary stenosis may be present in early
infancy with cyanosis due to right to left shunting through the
foramen ovale or an associated ASD.
e.
8.
S2 split with soft P2.
Management
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a.
Surgical valvotomy.
b.
Inflation of a balloon in the valve orifice to separate the fused
commissures.
b.
Presentation may be delayed until late in childhood or
adolescence.
5.
Signs
a.
Diminished or absent femoral pulses.
b.
Radiofemoral delay, commonly right only.
Coarctation of aorta
1.
Pathology
a.
Narrowing of aorta, most commonly around origin of
subclavian artery.
c.
Higher upper limb pressure than lower limb pressure by 20
mmHg.
6.
Non-functional PDA Coarctation of Aorta
b.
A discrete stricture is present in the distal part of the aortic
arch close to the site of the ductus arteriosus.
a.
Blood supply to lower body via collaterals:
2.
Associated with:
i.
internal mammary artery to inferior epigastric artery.
a.
PDA.
ii.
anastomosis at shoulder girdle.
b.
Bicuspid aortic valve.
iii.
superior intercostal artery to 1st intercostal artery.
c.
Aneurysm of circle of Willis.
b.
Symptoms:
d.
Subaortic stenosis.
i.
asymptomatic.
3.
Types
ii.
headache, dizziness, tinnitus, epistaxis, palpitations and
insomnia.
a.
Functional PDA
Non-functional PDA
iii.
limb.
intermittent claudication, delayed wound healing in lower
b.
4.
Symptoms
c.
Signs:
i.
prominent carotid pulse.
a.
Development of severe cardiac failure in the newborn period,
often in the second or third week of life.
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ii.
visible / palpable collaterals in interscapular region.
iii.
loud ESM at aortic area radiating to neck and mitral area.
7.
Radiology
a.
Cardiomegaly.
b.
Pulmonary congestion.
c.
Abnormal aortic knuckle.
d.
Rib notching due to presence of enlarged intercostal
arteries.
b.
Pulmonary stenosis.
c.
Right ventricular hypertrophy.
d.
Overriding aorta.
2.
Pathology
a.
Important lesions are pulmonary stenosis and VSD.
b.
Presence of severe pulmonary stenosis associated with
infundibular muscular obstruction with valvar hypoplasia and
commissure fusion leads to elevation of right ventricular pressure.
8.
Complications
c.
In most patients, the systolic pressure in the left and right
ventricles is equal, but the marked resistance to ejection into the
pulmonary circulation, due to the stenosis, produces right to left
shunting into the aorta.
a.
Left ventricular failure.
b.
Aortic dissection.
c.
Subarachnoid haemorrhage due to ruptured berry aneurysm.
9.
Treatment
a.
Cyanosis appears gradually during the early months of life or
rarely in later childhood and is more obvious on crying or on exertion.
a.
Infuse prostaglandins E1.
b.
b.
Treat heart failure.
i.
development of intermittent episodes of severe hypoxia and
cyanosis.
c.
Surgery if symptomatic, re-stenosis.
3.
Symptoms
Hypoxic spells:
ii.
they may appear spontaneously or precipitated by stress or
exercise.
Tetralogy of Fallot
1.
Components
a.
VSD.
iii.
loss of consciousness may occur.
c.
Failure to thrive.
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d.
Reduced exercise tolerance: children often adopt a squatting
posture at regular intervals during exertion.
d.
Hypoxic spells.
4.
Signs
e.
Relative anaemia.
a.
Single loud S2.
f.
Bleeding tendency: thrombocytopenia and prolonged PTT.
b.
ESM along left sternal edge and in pulmonary area and
radiates through to the back: the softer the murmur, the more severe
the PS.
g.
Hyperuricacemia: may cause acute renal failure.
8.
Differentials
5.
Pink Fallot
a.
Small VSD.
a.
signs.
A less severe form, lesions not severe enough to cause
b.
Tricuspid atresia.
9.
Associated lesions
b.
Left to right shunting.
a.
Right sided aortic arch (25%).
c.
Blood oxygen saturation in range of 92% with no cyanosis.
b.
Absent pulmonary or dysplastic valve (5%).
6.
Course and prognosis
c.
Absent pulmonary arterial collateral circulation (5%).
d.
ASD.
e.
Pulmonary atresia.
f.
AVSD.
10.
Radiology
a.
Normal, small or slightly enlarged heart or right ventricle.
b.
Large aorta, stenosis is usually infundibular.
c.
Diminished vascularity, oliguric lung fields.
a.
Cyanosis generally progresses gradually with diminishing
exercise tolerance, finger clubbing and in severe cases, growth
retardation.
b.
Development of cardiac failure is unusual, but the severe
cyanosis leads to extreme compensatory polycythaemia and
cerebral thromboembolic complications.
7.
Complications
a.
Cerebral thrombosis due to increase in blood viscosity.
b.
Brain abscess normally due to embolization.
c.
SBE.
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11.
ECG
a.
RAD.
b.
RVH.
c.
Prolonged ventricular complex in older children.
12.
Management
a.
Prophylactic propranolol: to clamp down sympathetic
discharge to the heart and prevent cyanotic attack.
b.
Blalock – Taussic operation: creating a communication
between the aorta and a pulmonary artery to increase pulmonary
blood flow.
13.
Case scenarios
a.
The management of choice is surgery when:
i.
child is old enough: > 2 years old.
ii.
pulmonary artery is of sufficient size (limiting factor).
b.
The timing of this procedure depends on the age of
presentation and severity of disease.
c.
Severe FT in neonate / infant:
i.
provide immediate relief by increasing pulmonary blood flow.
ii.
IV PG E infusion in neonates to maintain patency of DA to
provide pulmonary blood flow.
c.
Total correction:
i.
usually done when child is 3 – 4 years old.
ii.
mortality: 5 – 10%.
iii.
close VSD.
d.
Stable FT in neonate / infant: while awaiting for corrective
surgery, conservative medical treatment is advisable.
iv.
ligate PDA.
e.
v.
open PS.
d.
Conservative:
i.
prophylaxis against SBE.
iii.
BT shunt to link up subclavian artery to ipsilateral branch of
pulmonary artery.
FT in older children: total corrective surgery.
Transposition of great arteries
1.
Definition
a.
Atrial situs solitus.
ii.
dyspnoea and cyanosis: adopt knee-chest position and gives
oxygen or morphine.
b.
AV concordant.
iii.
c.
Ventriculoarterial disconcordant.
correction of relative anaemia with Fe tablets.
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d.
Venoatrial concordant.
c.
Apart from the cyanosis the infant may appear completely
normal.
2.
Pathology
5.
Signs
a.
Forceful right ventricular impulse at the left sternal edge.
b.
Narrowly split / single S2.
c.
Soft / absent systolic murmur.
d.
Signs of pulmonary hypertension / congestive heart failure.
c.
Survival is dependent on transfer of blood across from each
circuit into the other via a foramen ovale, ductus arteriosus or a
septal defect.
6.
Differentials
a.
Respiratory distress syndrome.
d.
Affected infants generally survive for several days or even
weeks due to shunting through the foramen ovale, but few live longer
than a month without help.
b.
Persistent fetal circulation.
c.
Neonatal polyasplenia.
3.
Associated problems
d.
Pulmonary atresia.
a.
PDA.
e.
Tricuspid atresia.
b.
VSD.
f.
Truncus arteriosus.
c.
Left ventricle outflow tract obstruction.
g.
Ebstein anomaly.
4.
Symptoms
h.
Hypoplastic left heart.
7.
Treatment
a.
The aorta and pulmonary arteries arise from the incorrect
ventricles.
b.
Systemic venous blood is directed through from the right
side of the heart back into the aorta and pulmonary venous blood
through the left side of the heart and back into the pulmonary
circulation.
a.
Cyanosis is present from the early hours of life and usually
progresses gradually over the next few days.
b.
Metabolic acidosis also may develop if the situation persists
untreated due to the tissue hypoxia.
a.
Cardiac catheterization is performed as an emergency
procedure and a catheter with an inflatable balloon at the tip is
passed into the left atrium via the foramen ovale.
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b.
After inflation of the balloon, the catheter is withdrawn with
force into the right atrium producing a tear in the atrial septum and
hence creating an atrial septal defect.
c.
This allows more effective interatrial shunting with
amelioration of the cyanosis and hypoxia.
c.
Persistent truncus arteriosus
1.
8.
Prone to arrhythmias.
Pathology
Surgery
a.
After successful balloon septostomy most infants will
manage comfortably for many weeks or months.
a.
A rare defect associated with presence of a single artery
which branches shortly after arising from the heart to give rise to the
pulmonary artery and aorta.
b.
Surgical correction is now performed by transferring the
pulmonary artery and the aorta back to their appropriate ventricles.
b.
The truncal valve usually sits astride a large VSD and
receives blood from both right and left ventricles.
c.
This needs to be performed in early infancy, usually the first
month of life, before the left ventricle has adapted to feeding the low
pressure circulation.
c.
Pulmonary artery may be rudimentary and blood flow to
lungs will be via bronchial artery.
d.
Mustard’s operation: wait till infant is 3 – 6 months old and
then rerouting blood at atrial level by insertion of a complex intraatrial patch or baffle.
e.
Senning’s operation: repositioning the patient’s own atrial
septum and infolding of part of the right atrium.
9.
Corrected TGA
a.
Physiological correction (ventricle inversion).
b.
Anatomical and radiological transposition tell by:
i.
mitral / tricuspid valve.
ii.
incompetence of left AV valve.
iii.
subvalvular AS.
2.
Symptoms
a.
toes.
Central cyanosis: polycythaemia, clubbing of fingers and
b.
Breathlessness of exertion, fatigue.
3.
Signs
a.
Poor physical growth.
b.
S2: loud, distinct and always single.
c.
Systolic murmur / thrill at base of heart.
4.
Radiology
a.
Plethoric lung fields.
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b.
Cardiomegaly.
c.
Absence of pulmonary artery – concavity / vascular shadow
of ventricle.
3.
Signs
a.
Weak peripheral pulses.
d.
Enlarged supra-cardiac ‘aortic’ shadow.
b.
Triple rhythm.
5.
Treatment
4.
Radiology
a.
Surgical correction in early infancy.
a.
Oligemic lung fields.
b.
The pulmonary artery is separated from the truncus and after
closure of the VSD leaving the aorta arising from the left ventricle a
valved conduit is placed to connect the right ventricle to the
pulmonary arteries.
b.
Gross cardiomegaly, enlarged right atrium – waterbag
appearance (differential is pericardial effusion).
5.
ECG
a.
Right atrial deviation.
b.
Pulmonary pulmonale.
c.
Frequently with partial / complete RBBB.
6.
Treatment: usually arrhythmia control.
Ebstein Anomaly
1.
Pathology
a.
Downward displacement of a part of tricuspid valve into right
ventricle.
b.
The posterior and medial cusps arise from the wall of the
right ventricle instead of the annulus fibrosus resulting in downward
displacement of right ventricle.
Tricuspid atresia
1.
c.
May be associated with ASD.
2.
Symptoms
a.
Breathlessness on exertion and fatigue.
b.
Central cyanosis during attacks of paroxysmal tachycardia.
c.
Development of CCF.
Pathology
a.
The tricuspid valve is blocked completely and there is no
communication between the right atrium and ventricle.
b.
Systemic venous blood passes via the foramen ovale or an
ASD into the left side of the heart and at ventricular or arterial level a
left to right shunt exists.
14
c.
This allows blood to perfuse the pulmonary circulation,
usually in reduced amounts.
b.
Blood in the right side of the heart passes via an ASD,
foramen ovale or VSD into the left ventricle or aorta.
2.
Signs
c.
The pulmonary circulation depends on collateral flow from
the aorta via a PDA or other collateral channels.
a.
Cyanosis develops early.
b.
A systolic murmur is audible along the left sternal border.
3.
ECG
a.
LAD.
b.
RAH.
c.
LVH.
d.
RV hypoplasia.
4.
Treatment
a.
A palliative shunt operation may be performed in infancy.
2.
Signs
a.
Cyanosis develops early.
b.
Continuous murmur due to associated PDA.
3.
Treatment
a.
Prostaglandin infusion to maintain patency of the ductus.
b.
Early surgical treatment involves a systemic to pulmonary
shunt procedure.
c.
Surgical correction by insertion of a ‘valved conduit’ from the
right ventricle into the pulmonary arteries.
b.
Later in childhood, reconstructive cardiac surgery to create a
wide anastomosis between the right atrium and the pulmonary
arteries allowing systemic venous blood to pass directly into the
pulmonary circulation (Fontan operation).
Pulmonary atresia
1.
Pathology
a.
The origin of the pulmonary artery from the right ventricle is
completely obstructed or absent.
15