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A Cyanotic
Congenital
Heart Diseases
Prepared by
Ismail Fadhil Abbas
6th Stage – A2
2019-2020
Undersupervision of
Dr. Zeyad Mohammed

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1.
Epidemiology

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✗ CHD incidence 8 per 1000 births.
✗ CHD may be asymptomatic.
✗ CHD multifactorial (chromosomal disorders,
single gene defects, teratogens, or maternal
metabolicdisease).
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2.
Presenting Problems

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Depend on Volume of shunt & severity of
obstruction:
1. Feeding difficulties
2. Tachypnea
3. Sweating
4. Sub-costalrecession
5. Recurrent respiratoryinfection
6. Growth impairment in infants
7. Exercise intolerance
8. Easy Fatigue
9. Murmur in olderchildren
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3.
Classification

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3.1
Atrial Septal Defect
(ASD)

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ASD: occur due to failure of septal growth or excessive
reabsorption of tissue. F:M ratio 3:1
Classification:
1- Secundum ASD (80%): the most common type, it is caused
by defect in the floor of fossa ovalis, resulting in failure of
the septum secondum to develop completely.
2- Primum ASD or partial atrioventricular septal defect:
Ostium primum ASDs may occur in isolation but most
commonly present with a cleft in the anterior leaflet of the
mitral valve (partial atrioventricular septal defect)
3- Sinus venosus defect: least common, occurs in the upper
atrial septum & associated with anomalous pulmonary
venous return
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Pathophysiology:Shuntingleft to right. The degree
of this shuntingis dependenton:
1. Size of the defect
2. Relative vascular resistance in the pulmonary
and systemic circulations.
Resistance in the pulmonaryvascular is commonly
normal in children with ASD, and increase in
volume load is usually well tolerated.
The chronic significant left-to-right shunt can alter
the pulmonaryvascular resistance leading to
pulmonaryarterial hypertension, even reversal of
shunt and Eisenmenger syndrome (if not treated)
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Symptoms
1. Asymptomatic (commonly)
2. Breathlessness, tiredness on exertion
3. Recurrent chest infections with wheezing
4. Heart failure
5. Arrhythmias
Physical Signs
1. A fixed and widely split 2nd heart sound
2. An ejection systolic murmur (soft), upper left sternal
edge
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Investigatons:
A- Chest X-ray
1. Usually normal
2. Cardiomegaly
3. Enlarged pulmonary arteries
4. Increased pulmonary vascular markings
B- Echocardiography Documents type, size and direction of
shunt. It’s the mainstay of diagnostic investigations
C- ECG: Provide strong diagnostic clue:
1. Both: right bundle branch block
2. Secundum ASD – shows right axis deviation
3. Partial AVSD – shows left axis deviation (superior axis)
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Chest X-ray Findings:
1. Cardiomegaly
2. Enlarged pulmonary
arteries
3. Increased
pulmonary vascular
markings

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Echocardiography

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ECG Findings:
1. Secundum ASD –
shows right axis
deviation
2. Right bundle branch
block

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Management
A- Secundum ASDs: If significant shunt is present at
around 3 y/o, closureis recommended. Cardiac
catheterizationwith insertion of an occlusion
device (closuredevice)
B- Primum ASD: Prophylaxisfor subacute bacterial
endocarditis. Surgical correctionat 3-5 y/o to
prevent right heart failure and arrhythmias in later
life.
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Closure Device
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Prognosis: ASDs detected in term infants may
close spontaneously. SecundumASDs are well
toleratedduring childhood, and symptoms do not
usuallyappear until the 3rd decadeor later.
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Complications:
1. Congestive heart failure
2. Arrhythmias
3. Pulmonaryhypertension
4. Infective endocarditis
5. Surgery may be associated with a long-termrisk
of atrial fibrillation or flutter. The risk of
infective endocarditisexists during the first 6
months after surgery.
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3.2
Ventricular Septal
Defect
(VSD)

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VSD: Most Common CHD. Three important things
with VSD:
✗ Location
✗ Size
✗ Pulmonaryvascular resistance
The amount of flow crossing a VSD dependson the
size of defect and the pulmonaryvascular
resistance.
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A- Locationof the VSD (prognostic and repair
approach):
The VSDs are subdivided according to the part of
the septum they occur in :
✗ Muscular,
✗ Perimembranous (adjacent to the tricuspid valve),
✗ Inlet,
✗ Outlet
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Locations of the VSD
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B- Pulmonaryvascularresistance:
At birth, the pulmonaryvascular resistance is
normally elevated, thus, even large VSDs are not
symptomatic at birth.
Over the first 6-8 weeks of life, pulmonaryvascular
resistance normally decreases.
More blood flows through the lung and into the left
atrium.
However, in VSD, the amount of shunt increases,
and symptoms may start to develop.
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C- Size of VSD
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Pathophysiology:
VSD permits a left-to-right shunt to occur at the
ventricular level with 3 adverse hemodynamic
consequences:
✗ Left ventricular (LV) volume overload
✗ Increased pulmonarybloodflow
✗ Compromise of systemic cardiac output
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Symptoms
A- Small VSD: Asymptomatic
B- Large VSD:
1. Heart failure with breathlessness
2. Failure to thrive.
3. Recurrent chest infections
Physical Signs
1. Murmur Grade II-IV/VI
2. Medium- to high-pitched
3. Harsh
4. Pansystolic murmur: heard best at the lower left sternal
border with radiation over the entire precordium
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Investigations:
✗ A-Echocardiography: Demonstrates the anatomy defect,
hemodynamic effects and severity of pulmonary HPT.
Small VSD: Chest X-ray & ECG – normal
Large VSD:
1- Chest X-ray shows
✗ Cardiomegaly
✗ Enlarged pulmonary arteries
✗ ↑ Pulmonary vascular markings
✗ Pulmonary oedema
2- ECG :
✗ Biventricular hypertrophy and signs of pulmonary HPT
✗ Right ventricular enlargement and hypertrophy (if not
treated)
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Echocardiography

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Chest X-ray Findings (large VSD)

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ECG Findings (large VSD)

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Management of small VSD:
Most will close spontaneously. Ensureby the
disappearanceof the murmur, normal ECG on
follow up, normal echocardiogram.
While the VSD is present, for prevention of bacterial
endocarditis :
✗ Maintain good dental hygiene
✗ Antibioticprophylaxis before dental extraction or
any operation where there’ll be bleeding
Surgical closure may not be required
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Complications:
1. PulmonaryHypertension
2. Heart Failure
3. Growth delay
4. Eisenmenger complex (cyanosis, PH &
Erythrocytosis)
5. Secondaryaortic insufficiency &Aortic
regurgitation
6. Infective endocarditis
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3.3
Atrio-ventricular
Canal Defects

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AVCD: Also referred to as Endocarial cushion defect, may
be complete or partial .
Pathophysiology:
The defect occurs as the result of abnormal development of
the Endocardial cushion tissue, resulting in failure of the
septum to fuse with the Endocardial cushion; this results
in abnormal atrioventricular valves as well.
The complete defect results in a primum ASD, Inlet VSD,
and cleft in leaflet of mitral and cleft leaflet of the
tricuspid valves.
In addition to left-to-right shunting at both levels, there may
be atrioventricular valvular insufficiency.
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Clinical Manifestations: The symptoms of CHF usually
develop as the pulmonary vascular resistance decreases
over the first 6 to 8 weeks of life.
A- Complete atrioventricular canal defect: develops in
the first several weeks of life:
1. Difficulty breathing or rapid breathing
2. Wheezing
3. Fatigue
4. Lack of appetite
5. Poor weight gain
6. Pale skin color
7. Bluish discoloration of the lips and skin
8. Excessive sweating
9. Irregular or rapid heartbeat
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B- Partial atrioventricular canal defect: not
appears until early adulthood and might be related
to complications:
1. Abnormal heartbeat(arrhythmia)
2. Shortnessof breath
3. High blood pressure in the lungs (pulmonary
hypertension)
4. Heart failure
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Investigations: The diagnosis usually is made with
echocardiography.
A- Chest x-ray: shows cardiomegaly with enlargement of
all chambers and the presence of increased vascularity.
B- ECG: shows left axis deviation and combined
ventricular hypertrophy and may show combined atrial
enlargement.
Treatment:
1. Initial treatment (Medical): diuretics and ACI
(captopril) or digoxin diuretics for treatment of CHF.
2. Surgical repair of the entire defect ultimately is
required.
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Echocardiography

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Chest X-ray Findings:
1. Cardiomegaly
2. Increased
pulmonary vascular
markings
3. Enlargement of all
chambers of heart

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ECG Findings

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3.4
Patent Ductus
Arteriosus

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DA: allows blood to flow from the pulmonaryartery
to the aorta during fetal life. This changes to the
oppositeafter birth.
In term infants, it normally closes shortly after birth.
Failure of the normal closureof it by a month
post term is due to a defect in the constrictor
mechanism of the duct.
In preterminfants, the PDA is not from CHD but
due to prematurity.
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Symptoms: Depend on size of PDA
1. Small: asymptomatic
2. Moderate to larger shunts: symptoms of CHF or even
pulmonary HPT
Signs:
1. Continuous machinery murmur beneath the left
clavicle
2. Widened pulse pressure collapsing or
bounding pulse
Investigations:
1. Chest X-ray & ECG: Usually normal unless the PDA
is large and symptomatic
2. Features seen are indistinguishable from VSD so Duct
should be readily identified by echocardiography
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Management:
A- Small PDA: closureis recommended due to the
risk of bacterial endocarditis
B- Moderateand large PDA: initially diuretics &
digoxin, but eventually closure(Closure is with a
coil or occlusion device introducedvia cardiac
catheterat about 1 y/o)
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3.5
Coarctation of the
Aorta

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COA: It is almost always juxtaductalin position (the
part near where the Ductus Arteriosus attaches)
During development of the aortic arch, the area near
the insertion of the Ductus Arteriosus fails to
develop correctly, resultingin a narrowing of the
aortic lumen.
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Clinical Manifestations: Timing of presentation
dependsprimarily on the severity of obstruction
and associated cardiac defects.
Symptoms:
1. Severe: Shock
2. Moderate: CHF
3. Mild : leg discomfort with exercise, headache, or
epistaxis.
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Signs:
1. Femoral pulses are weaker and delayed
compared with the radial pulses.
2. The blood pressure in the lower extremities is
lower than that in the upperextremities
3. The murmur is typically best heard in the left
interscapular area of the back. Continuous
murmurs may be heard throughout thechest. An
abnormal aortic valve is present approximately
50% of the time, causing a systolic ejection click
and systolic ejection murmur of aortic stenosis.
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Investigations:
1. Echocardiography:shows the site of Coarctation
and associated lesions.
2. In olderchildren, the ECG and chest x-ray
usuallyshow left ventricular hypertrophyand a
mildly enlarged heart with rib notchingmay also
be seen in olderchildren (>8 years old)with
large collaterals.
Management:
Balloonangioplasty or surgical repair.
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Thanks!
Any Questions?
References:
- Nelson Textbook
- Stanford Children’s
Health

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Case: 3 month old female presented with dypnea
with recurrent chest infection. On ausculation,
wheezing heard with fixed and widely split 2nd
heart sound. Chest x-ray was normal but ECG
showed right bundlebranch block.
What is your diagnosis? How can you treat this
case?
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