CONGENITAL HEART

DISEASES
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PREVALENCE
Occurs in 0.5–0.8% of live births. The incidence is
higher in stillborn (3–4%), spontaneous abortuses (10–
25%), and premature infants (about 2% excluding
patent ductus arteriosus [PDA]). This overall incidence
does not include mitral valve prolapse, PDA of preterm
infants, and bicuspid aortic valves (present in 1–2% of
adults). Congenital cardiac defects have a wide
spectrum of severity in infants: about 2–3 in 1,000
newborn infants will be symptomatic with heart
disease in the 1st yr of life.
ETIOLOGY
The cause of most congenital heart defects is
unknown. Most cases of congenital heart disease were
thought to be multifactorial and result from a
combination of genetic predisposition and
environmental stimulus. A small percentage of
congenital heart lesions are related to chromosomal
abnormalities, in particular, trisomy 21, 13, and 18 and
Turner syndrome; heart disease is found in more than
90% of patients with trisomy 18, 50% of patients with
trisomy 21, and 40% of those with Turner syndrome.
CYANOTIC HEART DISEASES
There is usually a shunt from right to left
Occurs due to main factors(shunting of blood)
1. Abnormal connection
2. Excessive pressure on the right
In cyanotic heart disease there is increased carboxyheamoglobin
in blood
The normal carboxyhaemoglobine is less than 2%
Cyanosis usually results from levels of more than 5mg
There is shunting of deoxygenated blood from right to left
then to tissues.
Cyanosis can also occur in respiratory diseases.
TYPES OF CYANOTIC HEART DISEASES
1. TETRALOGY OF FALLOT
Named after the person who studied it DR fallot
(French physician)
Studied defects which makes up tetralogy of fallot.
I. Ventricular septal defect
II. Pulmonary valve stenosis
III. Right ventricular hypertrophy
IV. Overriding of aorta
V. Artrio septal defect/patent foramen effect
TETRALOGY OF FALLOT
TETRALOGY OF FALLOT
TETRALOGY OF FALLOT
HEMODYNAMIC CHANGES
In this condition obstruction to the right ventricular
out flow which reduces pulmonary blood flow and
diverts un oxygenated systemic venus blood through
the VSD into the aorta.
Also the right ventrical is hypertrophied and during
systole blood is shunted from right to the left, as a
result there is cyanosis.
Cyanosis does not occur at birth ,this is because at
birth PDA has not yet fibrosed it act as an alternative
rout to the lungs
 CLINICAL FINDING
They vary depending on degree of right ventricular
obstruction
If obstruction is minimal at pulmonary valve ,cyanosis will be
minimal the baby may be even acyanotic
If the obstruction is maximal the baby will be deeply cyanosed
Some children are asymptomatic and develop cyanosis at four
months which becomes progressive.
Growth retardation, gains weight poorly
Becomes fatigued very easily
Have dyspnea on exertion, breast feeds for a shot time then
tires.
When big enough to walk like squatting.
Cont.
HYPERCYANOTIC SPELLS
Get cyanotic spells or hypoxemia spells characterized by ;
a) Sudden deepening or development of cyanosis
b) Sudden onset of dyspnea.
c) Alteration in consciousness
d) They become irritable tend to develop syncope
e) Are usually small and thin
f) Finger and toe clubbing depending on degree of cyanosis.
g) Rough ejection mummur it is well felt at left mid sternal border
in the third intercostal space, the murmur usually caused by
turbulent blood flow through narrowed right ventricular outflow
tract.
Treatment of Hypercyanotic Spells
Comfort child and place in knee chest position
Administer oxygen by face mask
Give morphine, 0.1 mg/kg, subcutaneously
Begin intravenous fluid replacement and volume
expansion (if child is anemic, administer blood)
Treat acidosis with sodium bicarbonate
Repeat morphine, 0.1 mg/kg, intravenously
Treatment of Hypercyanotic Spells cont.
Increase systemic vascular resistance by intravenous
administration of phenylephrine; titrate dose to
increase systemic systolic blood pressure by 20%
Administer propranolol, 0.1 mg/kg, intravenously
Administer general anesthesia
Operate to repair defect or to establish systemic-to-
pulmonary artery anastomosis
Cont.
Flow is severe restricted as in infants with sever
cyanosis
Absence of a systolic mummur in a child with features
of TOF will suggest complete pulmonary atresia with
blood flow being supplied by systemic collateral
vessels.
Investigations
Take a chest x-ray –
I. pulmonary vascular markings will be decreased
II. Heart size will be normal
III.Evidence of right ventricular hypertrophy
IV. Absence of pulmonary artery segment forming a BOOT
SHAPPED HEART
Echo –will show right ventricular hypertrophy
Laboratory findings-HB, hematocrit, rbc count are increased
Cardiac catheterization-it shows absence of significant left to
right shunt.
Complications of TOF.
Cerebral infarction-due to reduced o2 supply
Brain abscess- most of times due to anaerobes
Congestive cardiac failure occur to almost all CHD
Infective bacterial endocarditis
TREATMENT
Divided into;
1. Palliative
2. Total correction
PALLIATIVE
Divided into;
1. Medical
2. Surgical
Treatment cont.
MEDICALTREATMENT
Give oral beta blocking agents
Neonates with marked right ventricular outflow tract
obstruction may deteriorate rapidly because, as the ductus
arteriosus begins to close, pulmonary blood flow is further
compromised. The intravenous administration of
prostaglandin E1 (0.01–0.20 μg/kg/min), a potent and
specific relaxant of ductal smooth muscle, causes
dilatation of the ductus arteriosus and usually provides
adequate pulmonary blood flow until a surgical procedure
can be performed
Treatment cont.
SURGICAL; create a pulmonary arterial from artery to
pulmonary artery through arterial anastomosis. The
earliest procedure in surgery is called BLALOCK
TAUSING SHUNT. Also less often used procedure is
anastomosis from ascending aorta to right pulmonary
artery which is called WATERSON ANASTOMOSIS.
Treatment cont.
TOTAL COLLECTION
Performed under cardiopulmonary bypass it involves
the following
1. Opening right ventricle
2. Closing septal defects
3. Removing obstruction to right ventricle, follow
opening of pulmonary valve
Major risk is sudden death due to arrhythmias
2.TRICUPSID ARTRESIA
 Failure of canalization of tricuspid valve
 It Is relatively a rare condition
 It makes about 1% of congenital heart diseases
 It is characterized by complete atresia of tricuspid valve no
communication between right atrium and right ventricle
 Divided into;
1. Type 1-the condition is without transposition of great artery.
2. Type 2-trans position of great artery is present
 In this condition since there is no direct communication between right
atrium and right ventricle the entire systemic venous return must flow
through artrial septum either through ASD or patent ductus ovale
TRICUPSID ARTRESIA
TRICUPSID ARTRESIA
Cont.
Complete mixing of blood occurs in left atrium
There is usually severe hypoplasia of right ventricle where there is
no VSD or VSD is small
CLINICAL FEATURES
1. Symptoms develops in early infancy babies are cyanosed at birth
2. Have poor growth and development
3. Easy fatigability when feeding
4. Tachycardia
5. Dyspnea
6. Cyanotic spells
7. Evidence of right heart failure
Investigations.
Chest x-ray- shows reduced pulmonary vascular
markings, enlargement of right atrium and heart is
slightly enlarged
Echo
Treatment
Usually surgical
TRUNCUS ARTERIOSUS
Persistent truncus arteriosus accounts for less than 1%
of all CHD
In this condition there is one huge vessel arising from
the heart and supplies both systemic and pulmonary
arterial bed
There is complete lack of foramen of SPIRAL RIDGES
that divide fetal truncus arteriosus into aorta and
pulmonary artery
A high large ventricular septal defect is always present
TRUNCUS ARTERIOSUS
TRUNCUS ARTERIOSUS
Clinical features
1. Patients presents with marked cyanosis
2. Growth retardation
3. Easy fatigability
4. Dyspnea on exertion
5. Features of CCf
6. Systolic murmur in the lower left sternal boarder.
investigations
Chest x-ray; heart is boot shaped
Angiography
Echo
TRANSPOSITION OF GREAT ARTERIES
Complete transposition of great arteries is the 2nd most
common of CHD
Accounts for about 16% of all cases
It I s3 times more common in males than females ratio of 3:1
Usually due to embryological abnormality in the spiral
division of truncus arteriosus
The aorta is located anterior to pulmonary artery or to the
left or to the right
In most cases there is an associated intra cardiac
abnormality like VSD, ASD,PDA and pulmonary stenosis
TRANSPOSITION OF GREAT ARTERIES
TRANSPOSITION OF GREAT ARTERIES
Classification
1. Group1;there is transposition with intact ventricular septum
2. Group2; transposition with VSD
HAEMODYNAMICS
Un oxygenated blood flows from systemic veins to the right
atrium to right ventricle then back to systemic arteries
through aorta
The oxygenated pulmonary artery blood flows to the left
atrium to the left ventricle directly to the lungs through
pulmonary artery.
In absence of connection between these two circuits the
situation is incompatible with life
Clinical features
1. Many neonates are quit large 4kg at birth
2. Most are cyanotic at birth
3. Growth retardation
4. Systolic murmur at left of sternum boarder
TOTAL ANOMALOUS PULMONARY VENUS
RETURN
Accounts for 2% of all CHD
The pulmonary venous blood does not delay in left
atrium but drains either directly or indirectly through
systemic venous connection to the right atrium
A right to left shunt is always present either its ASD or
patent foramen ovale
TOTAL ANOMALOUS PULMONARY VENUS
RETURN
TOTAL ANOMALOUS PULMONARY VENUS
RETURN
TYPES
Total anomalous pulmonary venous return is classified
into different types, based on how and where the
pulmonary veins drain to the heart:
1. Supracardiac Total Anomalous Pulmonary Venous
Return
The pulmonary veins drain to the right atrium via the
superior vena cava. In this type of TAPVR, the pulmonary
veins first come together behind the heart and then drain
upwards to an abnormal “vertical vein.” This vertical vein
joins the innominate vein which connects to the right
superior vena cava and drains to the right atrium.
TYPES CONT.
2. Cardiac Total Anomalous Pulmonary Venous
Return
The pulmonary veins come together behind the
heart and then drain to the right atrium through
the coronary sinus. The coronary sinus is the
vein that normally returns blood from the heart
muscle itself back to the right atrium after its
oxygen has been depleted. The coronary sinus
drains directly into the right atrium.
TYPES CONT.
3. Infracardiac Total Anomalous Pulmonary Venous
Return
The pulmonary veins drain to the right atrium
via the hepatic (liver) veins and inferior vena
cava. In this type, the pulmonary veins join
together behind the heart and then typically
drain downwards, connecting to the liver's
portal vein system. They then drain through the
vascular bed of the liver and enter the right
atrium from the hepatic veins.
CLINICAL FEATURES
These infants look very sick ½ of them die within
6months of life
They have cyanosis.
Develop CCF
Have severe tachypnea
A systolic murmur which is usually heard best at
pulmonary area.
Treatment
Usually surgical
POSSIBLE COMPLICATIONS
Breathing difficulties
Heart failure
Irregular, fast heart rhythms (arrhythmias)
Lung infections
Pulmonary hypertension
Double-Outlet Right Ventricle
It’s a congenital heart disease where by aorta connects
to the right ventricle
Both pulmonary artery and aorta connects to the
right ventricle
VSD always occur with DORV
Other conditions that may be part of the defect are
pulmonary valve stenosis and transposition of the
great arteries
Double-Outlet Right Ventricle
TYPES OF DORV
There are 4 types of DORV that occurs depends on
where the VSD is located in relation to great arteries.
a) DORV WITH SUBAORTIC VSD; this means that the
VSD is located just below the aorta
b) DORV with sub pulmonary VSD; this means that
the VSD is located below the pulmonary artery
c) DORV with double committed VSD; this means
there is 2VSD are below the pulmonary artery and
one below the aorta.
Cont.
d) DORV with a non-committed VSD; this means that the VSD is not located
near the aorta or pulmonary artery.
SYMPTOMS OF DORV
The most common sign and symptom of DORV may not appear for days or
weeks after birth.
1. Shortness of breath
2. Heart murmur
3. Sweating
4. Extreme tiredness
5. Fast and difficult breath
6. Cyanosis
7. No interest in feeding
8. Loss of weight or no weight gain
Treatment of DORV
It depends on the type of DORV the child age and how
serious the DORV is.
For most cases of DORV surgery is the treatment of
choice.
Single Ventricle
The anatomic variability of neonates with a single
ventricle is broad. Two forms of single ventricle—
tricuspid atresia and hypoplastic left heart syndrome
Complete mixing of the systemic and pulmonary
venous blood flow occurs in all forms of single
ventricle. The cause can be anomalous pulmonary
venous return, atresia of one of the AV valves with
atrial-level shunting, or double inlet of the mitral and
tricuspid valves into a single ventricle.
Single Ventricle
ACYANOTIC HEART DISEASES
In this disease the shunt is usually from left to right,
usually causes excessive pulmonary circulation
PATENT DUCTUS ARTERIOSUS
Persistent in extra uterine life of the normal fetal
vessel that joins the pulmonary artery to aorta.
Its quit common condition accounts for 12% of all
CHD
Its twice common in females than males
PATENT DUCTUS ARTERIOSUS
Predisposing factors for PDA
This condition is common in children of mothers who
had rubella in the 1st trimester.
There is also higher incidence in infants born of
higher altitude over 10000m
CLINICAL FEATURES
Clinical findings depends on the size of shunt and
degree of pulmonary hypertension
Presents with;
Clinical features cont.
a) Wide pulse pressure
b) Growth retardation
c) A murmur which is rough machinery
murmur heard at 2nd intercostal space left
sternal boarder
d) Features of CCF
Clinical features cont.
A small patent ductus does not usually have
any symptoms associated with it.
A large PDA will result in heart failure
similar to that encountered in infants with a
large VSD.
Retardation of physical growth may be a
major manifestation in infants with large
shunts.
INVESTIGATIONS
Chest x-ray – evidence of left atrium and
ventricle
Cardiac catheterization
echo
Treatment of PDA
May close spontaneously by age of 4months
The remainder which don’t close are usually surgically
corrected
Ligation is done before 2yrs to avoid bacterial
endocarditis
Eisenmenger's syndrome
Eisenmenger syndrome is a cyanotic heart defect
characterized by a long-standing intracardiac shunt
(caused by "VSD": Ventricular septal defect, "ASD":
Atrial septal defect), or, less commonly, "PDA": Patent
ductus arteriosus that eventually reverses to a right-to-
left shunt. This syndrome is less frequent today
because of medical screening with echocardiography
early in life.
COARCTATION OF AORTA
Its narrowing of aorta
It commonly occurs distal to the left subclavian artery where
ductus arteriosus joins the aorta
It accounts for 6% of all cases of CHD
Its 3 times common in males than in females
CLINICAL FINDINGS
It may have cardiovascular symptoms
Hypertension in upper extemiries
Tiredness weakness of lower limbs and mucle cramps
Weak and delayed radial femoral pulse
Evidence of collateral circulation in older children
COARCTATION OF AORTA
investigations
Chest x-ray-may be normal
Echo
TREATMENT
By surgical correction
Complication of coarctation of aorta
Complications that may occur before, during, or soon after surgery
include:
Aortic aneurysm
Aortic dissection
Aortic rupture
Bleeding in the brain
Early development of coronary artery disease (CAD)
Endocarditis (infection in the heart)
Heart failure
Hoarseness
Kidney problems
Paralysis of the lower half of the body (a rare complication of surgery
to repair coarctation)
Severe high blood pressure
Stroke
Complication of coarctation of aorta cont.
Long-term complications include:
Continued or repeated narrowing of the aorta
Endocarditis 
High blood pressure
Ventricular septal defect
Most common congenital cardiac malformation
Accounts for 30% of all CHD-isolated VSD 15% VSD
with other malformation e.g. TOF
Defects may occur in any portion of the ventricular
septum, but most are of the membranous type.
These defects are in a posteroinferior position,
anterior to the septal leaflet of the tricuspid valve.
VSDs in the midportion or apical region of the
ventricular septum are muscular in type and may be
single or multiple
ETIOLOGY
Genetic predisposition in cases i.e. VSD is
common in some families
Also common in children with congenital
rubella
It can also be caused by some drugs e.g.
thalidomide, tetracycline.
PATHOPHYSIOLOGY.
The physical size of the VSD is a major, but not
the only determinant of the size of the left-to-right
shunt
When a small communication is present (usually
<0.5 cm2), the VSD is called restrictive and right
ventricular pressure is normal.
In large nonrestrictive VSDs (usually >1.0 cm2),
right and left ventricular pressure is equalized.
Ventricular septal defect
TYPES OF VSD
There are four types of VSD:
(i) Perimembranous,
(ii) supracristal (or subpulmonary or
subaortic),
(iii) inlet (VSD of the AV canal type), and
(iv) muscular
Hemodynamics
The flow of blood through VSD is depedent on size of
defect and pulmonary vascular resistance
Shunting is minimal at birth even with large defect
because of low pulmonary resistance
CCF may occur as early as 2nd week of life
Prognosis
Spontaneous closure occur in about 25% in early child
hood except large VSD
Clinical finding
a) Frequent respiratory chest infections in early child
hood
b) Growth retardation
c) Exercise intorelance
d) Fatigue
e) CCF
f) There is a murmur which is systolic radiates from
right to left lower sternal boarder
Clinical manifestations.
The clinical findings of patients with a VSD vary
according to the size of the defect and pulmonary
blood flow and pressure
In small VSD characteristically, a loud, harsh, or
blowing holosystolic murmur is present and heard
best over the lower left sternal border, and it is
frequently accompanied by a thrill.
The holosystolic murmur of a large VSD is
generally less harsh than that of a small VSD and
more blowing in nature because of the absence of
a significant pressure gradient across the defect.
Diagnosis
In patients with small VSDs, the chest radiograph
is usually normal, although minimal cardiomegaly
and a borderline increase in pulmonary
vasculature may be observed.
The electrocardiogram is generally normal but
may suggest left ventricular hypertrophy.
Management of VSD
Depends on clinical symptoms
The natural course of a VSD depends to a
large degree on the size of the defect.
A significant number (30–50%) of small
defects close spontaneously, most frequently
during the 1st 2 yr of life.
Management of VSD cont.
Small muscular VSDs are more likely to
close (up to 80%) than membranous VSDs
are (up to 35%).
The vast majority of defects that close do so
before the age of 4 yr, although spontaneous
closure has been reported in adults.
Recommended age of operation is around 4
years otherwise most will close
sponteneously
Arterial septal defect
Atrial septal defects (ASDs) can occur in any portion of the atrial
septum
secundum,
primum, or
sinus venosus,
depending on which embryonic septal structure has failed to
develop normally
Less commonly, the atrial septum may be nearly absent, with the
creation of a functional single atrium. Isolated secundum ASDs
account for ≈7% of congenital heart defects.
Defects is usually at arterial septum in this condition blood flows
from left to right
Ostium Secundum ASD
An ostium secundum defect in the region of
the fossa ovalis is the most common form of
ASD and is associated with structurally
normal atrioventricular (AV) valves.
Mitral valve prolapse has been described in
association with this defect but is rarely an
important clinical consideration.
 Sinus Venosus ASD
A sinus venosus ASD is situated in the
upper part of the atrial septum in close
relation to the entry of the superior vena
cava.
Often, one or more pulmonary veins
(usually from the right lung) drain
anomalously into the superior vena cava.
Ostium Primum ASD
An ostium primum defect is situated in the lower
portion of the atrial septum and overlies the mitral
and tricuspid valves.
In most instances, a cleft in the anterior leaflet of
the mitral valve is also noted.
The tricuspid valve is usually functionally normal,
although some anatomic abnormality of the septal
leaflet is generally present.
The ventricular septum is intact.
CLINICAL FEATURES
a) Poor weight gain
b) Systolic murmur heard best in the 1st -2nd intercostal
spaces left sternal boarder
c) A child with an ostium secundum ASD is most often
asymptomatic; the lesion may be discovered
inadvertently during physical examination.
d) Even an extremely large secundum ASD rarely
produces clinically evident heart failure in
childhood.
MANAGEMENT
May close spontaneously, if it fails repaired surgically
PROGNOSIS
ASDs detected in term infants may close
spontaneously. Secundum ASDs are well tolerated
during childhood, and symptoms do not usually
appear until the 3rd decade or later.
Infective endocarditis is extremely rare, and antibiotic
prophylaxis for isolated secundum ASDs is not
recommended.
Arterial septal defect
Aortic valve stenosis
Obstruction of the outflow from left ventricle at or
near the aortic valve
A condition in which a systolic pressure gradient is
more than 10mmHg exist between the left ventricle
and aorta
Accounts for 5% of all CHD
Can occur as acquired
CLINICAL FEATURES
Mild exercise intolerance
Fatigability
Dizziness
Syncope
May have sudden death
Severe heart disease
A systolic thrill
Weak pulses
High pitched ejection systolic murmur
Investigations
Chest x-ray- left ventricular prominent
Echo- left ventricular hypertrophy
Cardiac catheterization
MANAGEMENT
Surgical repair
Mitral stenosis
A rare condition as a congenital
CLINICAL FEATURES
Tachypnea
Dyspnea
Mild diastolic murmur
Blood stained sputum
Mitral stenosis
THE END
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