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Congenital Heart Disease
Prof. Pavlyshyn H.A.
Congenital heart disease (CHD) –
general points
is a defect in the structure of the heart and
great vessels which is present at birth
• CHD are the main cause of defect-related deaths
• Incidence is 8-9/1000 live births
• More common in premature infants
• May be associated with a significant musculoskeletal defect
(e.g. diaphragmatic hernia, exomphalos, tracheo-oesophageal
fistula, imperforate anus)
Congenital heart disease (CHD)
• Causes are multifactorial and
include maternal illness (diabetes
mellitus, phenylketonuria, and
systemic lupus erythematosus),
maternal infections (Rubella),
drugs (lithium, thalidomide),
known teratogens, harmful
habits (alcohol, hydantoin)
and associations with
chromosomal abnormality or
other recognized patterns of
malformation or syndrome;
Trisomy 18
100% have CHD
Evaluation of the newborn
Recognition of Cyanosis
• Cyanosis = blue color of skin and mucous membranes
caused by reduced oxygen content
• oxygen content of blood depends upon:
Hgb level
oxygen saturation
blood flow
• cyanosis usually noted when Sat’s <86%
• cyanosis more easily seen in polycythemia
• cyanosis more difficult to see in anemia
• Acrocyanosis vs. central cyanosis
Recognition of Cyanosis
Central cyanosis
• noted in the trunk, tongue, mucous membranes
• due to reduced oxygen saturation
Peripheral cyanosis
• noted in the hands and feet, around mouth
• due to reduced local blood flow
Recognition of Cyanosis
Differential cyanosis
1. pink upper, blue lower
CoA (Coarctation of the aorta), IAA (Interrupted aortic arch), Pulm Htn
2. blue upper, pink lower Transposition of the great vessels
d-TGA with pulm Htn dextro-Transposition of the great arteries
*indicates serious underlying cardiac or lung disease*
Chest Radiograph may be helpful
The following lesions present with reduced
pulmonary vascular markings
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• Tetralogy of Fallot (TOF)
• Pulmonary atresia
• Tricuspid atresia
• Critical pulmonary stenosis
The following lesions present with increased
pulmonary vascular markings on chest X-ray
• • VSD, Transposition of the great arteries (TGA)
• • Truncus arteriosus
• • Total anomalous pulmonary venous drainage (TAPVD)
A 15-year-old girl with short stature, neck webbing, and
sexual infantilism is found to have coarctation of the aorta.
A chromosomal analysis likely would demonstrate
which of the following?
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a. Mutation at chromosome 15q21.1
b. Trisomy 21
c. XO karyotype
d. Defect at chromosome 4p16
e. Normal chromosome analysis
Acyanotic Congenital Heart Disease
↑ Pulmanary blood flow
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•
Left-to-Right Shunt Lesions
Patent Ductus Arteriosus (PDA)
Atrial Septal Defect (ASD)
Ventricular Septal Defect (VSD)
Atrioventricular Septal Defect (AV Canal)
Patent Ductus Arteriosus
• PDA – Persistence of the normal fetal vessel that joins the
PA to the Aorta.
• Normally closes in the 1st wk of life.
• Female:Male ratio of 2:1
• Often associated w/
coarctation & VSD.
to R arm
& head
To L arm
MHMC PDA ligation
Patent Ductus Arteriosus
Hemodynamics
• As a result of higher
aortic pressure, blood
shunts L to R through
the ductus from Aorta
to PA.
Patent Ductus Arteriosus
Clinical Signs & Symptoms
• tachycardia
• respiratory problems shortness of breath
• Poor growth
• Differential cyanosis cyanosis of the lower extremities
but not of the upper body.
Patent Ductus Arteriosus
Clinical Signs & Symptoms
• Characteristic systolicdiastolic murmur at the
base of the heart with
maximum in the PA
• It localized to the 2nd left
intercostal space or radiate
down the left sternal border or
to the left clavicle.
Patent Ductus Arteriosus
Clinical Signs & Symptoms
• Classic continuous
machine-like murmur
• It begins soon after onset of the 1st sound,
reaches maximal intensity at the end of
systole, and wanes in late diastole.
• prominent apical impulse
enlarged heart,
• Left subclavicular thrill
• Bounding pulse
• Widened pulse pressure
Chest X-ray
• pulmonary
vascularity is
increased;
•
• enlargement of
left sided heart
Patent Ductus Arteriosus
Treatment
• Indomethacin - can be used in premature
infants (0.2 mg/kg)
• Ibuprofen -10-5-5 mg\kg
• PDA requires surgical or catheter closure.
• Closure is required treatment heart failure &
to prevent pulmonary vascular disease.
• Mortality is < 1%
How can you characterize the PDA?
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Cyanotic CHD with R-to-L shunt
Cyanotic CHD with mixed blood flow
Acyanotic CHD with R-to-L shunt
Acyanotic CHD with L-to-R shunt
Cyanotic CHD with ↓ Pulmonary blood flow
Ventricular Septal Defect
• VSD – is an abnormal opening in the
ventricular septum, which allows free
communication between the Rt & Lt
ventricles.
• Accounts for 25% of CHD.
Ventricular Septal
Defect
• During systole some of the blood from the LV leaks into the RV,
passes through the lungs and reenters the LV via the pulmonary veins
and LA.
• Such circuitous route of blood causes volume overload on the LV.
• The LV normally has a much higher systolic pressure (~100 mm Hg)
than the RV (~85 mm Hg) and through VSD blood leaks into the RV
and elevates RV pressure and volume, causing Pulm HTN.
• These changes lead to elevated RV & pulmonary pressures & volume
hypertrophy of the LA & LV.
Ventricular Septal Defect
Clinical Signs & Symptoms
• Small - moderate VSD, 3-6mm, are usually
asymptomatic.
Small defects located predominantly in the muscular
septum with slight hemodynamic impairment
(Tolochinov-Roge disease)
• Moderate – large VSD, almost always have
symptoms and will require surgical repair.
Ventricular Septal Defect
Clinical Signs & Symptoms
• If the defect is large and pulmonary vascular
resistance is not significantly elevated (L-t-R-shunt)
– growth failure, CHF, repeated lower respiratory
tract infections (begin at 1-2month);
• If the defect is large and pulmonary vascular
resistance is very high (Eisenmenger’s reaction) –
shortness of breath, dyspnea on exertion, chest pain,
cyanosis;
Ventricular Septal
Defect
Listen at the back for radiation of murmurs
• Pansystolic/holosystolic murmur - loud, harsh, blowing
heard best over the LLSB, frequently is accompanied by thrill
(depending upon the size of the defect) +/• more prominent with small VSD, may be absent with a very large
VSD.
Ventricular Septal Defect
Chest X-ray:
• increased pulmonary
vascularity,
• enlargement of the
LA and LV;
CXR: progressive dilatation of heart.
• cardiomegaly
• increased
pulmonary
vascularity,
• enlargement
of the LA and LV;
ECG:
overload of LV and RV
І
ІІ
ІІІ
V1
V2
V3
AVR
V4
AVL
V5
AVF
V6
LA, LV or biventricular hypertrophy. RV hypertrophy predominates
when pulmonary vascular resistance is high.
Ventricular Septal
Defect
Treatment
• Small VSD - no surgical intervention, no
physical restrictions;
• Bacterial endocarditis prophylaxis is indicated.
• Symptomatic VSD - Medical treatment
initially with afterload reducers & diuretics.
Atrial Septal Defect - ASD
• is a form of CHD that enables blood flow between the left and
right atria via the interatrial septum (it is possible for blood to
travel from the left side to the right side of the heart).
• Seen in 10% of all CHD.
There are 3 major types:
Sinus
Venosus
• Secundum ASD
• Primum ASD – low in the septum
• Sinus Venosus ASD
ASD
with left-to-right shunt
In normal, the chambers of the left side of the
heart are higher pressure than of the right side;
ASD with left-to-right
shunt
• In the case of a large ASD (>9mm), may result in left-to-right shunt,
blood will shunt from the LA to the RA.
• This extra blood may cause a volume overload of both the right
atrium and the right ventricle.
• Ultimately the RV must push out more blood than the LV due to the
L-to-R shunt. This condition can result in eventually RV-failure
(dilatation and decreased systolic function) and Pulm Htn.
Atrial septal defect with
left-to-right shunt
• When the pressure in the RA rises to the level in the LA,
the left-to-right shunt will diminish or cease.
• When the pressure in the RA to be higher than the pressure
in the LA and will reverse the shunt → right-to-left shunt
will exist (this phenomenon is known as Eisenmenger’s
syndrome).
Atrial Septal Defect
Clinical Signs & Symptoms
• Most are asymptomatic, but may have easy
fatigability, mild growth failure, frequent
lower respiratory tract infection.
• Cyanosis does not occur unless Pulm HTN or
R-to-L shunt is present.
Atrial Septal Defect
Physical finding
• mild left precordial bulge
(hyperactive precordium);
• RV heave (RV systolic lift
is palpable at the LSB);
Feel the precordium for
hyperactivity
and for thrills
Atrial Septal Defect
• Loud 1st heart sound, sometimes pulmonic ejection click;
• The 2nd heart sound is widely split and fixed in all
phases respiration;
Listen carefully
Systolic ejection murmur – its medium pitched, seldom
accompanied by a thrill, and best heard at the LSB (left middle and
upper sternal border);
Short, rumbling mid-diastolic murmur produced by the
increased volume of blood flow across the tricuspid valve is often
audible at the LLSB (lower left sternal border) .
Atrial Septal Defect
Diagnosis
• X-ray chest: pulmonary vascularity is increased
• ECG: right-axis deviation;
• Echo-CG: RV is enlarged, defect is visualized;
І
ІІ
V1
ECG:
V2
right-axis deviation,
hypertrophy RV, RA
ІІІ
AVR
V3
V4
V5
AVL
V6
AVF
Atrial Septal Defect
Treatment:
• Surgical or catheterization laboratory closure is
generally recommended for secundum ASD.
• Closure is performed electively between ages 2 & 5 yrs
to avoid late complications.
•
• Mortality is < 1%.
Acyanotic Congenital Heart Disease
Obstruction to blood flow
from ventricles
• Coarctation of the Aorta
• Pulmonary Stenosis
• Aortic Stenosis
Coarctation of the Aorta
• Coarctation- is narrowing of the aorta at
varying points anywhere from the
transverse arch to the iliac bifurcation.
• Male: Female ratio 3:1.
• Accounts for 7 % of all CHD.
Coarctation of the Aorta
Hemodynamics
• Obstruction of left ventricular outflow 
LV afterload increases  pressure
hypertrophy of the LV.
Coarctation of the Aorta
Clinical Signs & Symptoms
• Higher BP in the upper extremities as
compared to the lower extremities.
• 90% have systolic hypertension of the
upper extremities.
Coarctation of the Aorta
Clinical Signs &
Symptoms
• Classic signs of
coarctation are
diminution or absence
of femoral pulses.
• Pulse discrepancy
between rt & lt arms.
Feel the pulses
especially brachial and femoral
Coarctation of the Aorta
Clinical Signs & Symptoms
• Sings of low cardiac output, poor peripheral perfusion LE hypoperfusion, acidosis, HF and shock.
• Decreased and delayed pulses in lower extremities.
• Systolic ejection murmur @ LSB.
• Cardiomegaly, rib notching on X-ray.
Coarctation of the Aorta
rib notching
Coarctation of the Aorta
Treatment
• With severe coarctation maintaining the ductus
with prostaglandin E is essential.
• Surgical intervention, to prevent LV dysfunction.
• Angioplasty is used by some centers.
• Balloon angioplasty is the procedure of choice.
Pulmonary Stenosis
• Pulmonary Stenosis is obstruction in the region
of either the pulmonary valve or the subpulmonary
ventricular outflow tract.
• Accounts for 7-10% of all CHD.
• Most cases are
isolated lesions
Pulmonary
Stenosis
Hemodynamics
RV pressure hypertrophy  RV failure.
RV pressures maybe > systemic pressure.
Post-stenotic dilation of main PA.
W/intact septum & severe stenosis  R-L
shunt through FO  cyanosis.
• Cyanosis is indicative of Critical PS.
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Pulmonary Stenosis
Clinical Signs & Symptoms
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Depends on the severity of obstruction.
Asymptomatic w/ mild PS < 30mmHg.
Mod-severe: 30-60mmHg, > 60mmHg
Prominent jugular a-wave
RV lift, RV heave
Split 2nd hrt sound
Ejection click, followed by systolic murmur.
Heart failure & cyanosis not relieved by inhaled
oxygen seen in severe cases.
Pulmonary Stenosis
Treatment
• Balloon valvuloplasty, treatment of choice.
• Surgical valvotomy is also a consideration.
Cyanotic Congenital Heart Disease
•Severe Cyanosis
PaO2 ≤ 40 mmHg
• Obstruction to RV outflow causes intracardiac R-to-L shunting
• Complex anatomic defects cause an admixture of pulmonary and
systemic venous return in the heart
• Decreased pulmonary blood flow
– Tricuspid atresia, intact ventricular septum
– Critical pulmonary stenosis
– Ebstein’s anomaly
– Tetralogy of Fallot*
• Chest X-Ray
Decreased pulmonary vascular markings
“Boot-shaped heart” in Tetralogy of Fallot
Right sided obstruction
1. Obstruction of RV
outflow (Pulmonary
stenosis);
2. VSD;
3. Dextroposition of
the aorta with
override of the
ventricular septum;
4. RV hypertrophy
Tetralogy of Fallot
Assessment Findings with
Tetralogy of Fallot
Symptoms are variable depending of degree of obstruction
• Cyanosis – is variable (isn’t present at the birth, occurs later in
the 1st yr of life)
• Digital clubbing and hyperpnea at rest are directly related to the
degree of cyanosis
• Tachycardia
• Mental retardation
• Retarded growth and development
• RV heave
• Systolic ejection murmur is heard along the left sternal border
Assessment Findings with
Tetralogy of Fallot
• Paroxymal dyspnea
• Severe dyspnea on exertion
• Squatting position for the relief of dyspnea caused
physical effort,
• “Blue” spells, “tet” spells, paroxysmal
hypercyanotic attacks – infant becomes hyperpnea,
restless, cyanosis increases, gasping respirations,
syncope
Hypercyanotic Spells/Blue Spells/Tet Spells
Clinical Manifestations
‫ ٭‬Most often occurs in morning after feedings,
defecation, or crying
‫ ٭‬Acute cyanosis
‫ ٭‬Hyperpnea
‫ ٭‬Inconsolable crying
‫ ٭‬Hypoxia which leads to acidosis
Chest X-Ray
• Decreased
pulmonary vascular
marking
• “Boot-shaped
heart”
Treatment of the Child with TOF
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Decrease cardiac workload
Prevention of intercurrent infection
Prevention of hemoconcentration
Surgical repair – palliative or corrective
surgery
Balloon Dilatation
of Pulmonic Valve
d-Transposition of the Great Arteries
d-Transposition of the Great Arteries
• Pathophysiology
– Cyanosis due to failure of delivery of pulmonary
venous blood to the systemic circulation
– Two parallel circulations with no mixing
– Open atrial septum (fossa ovalis) allows some left-toright shunt, enhanced by a left-to-right ductus
arteriosus shunt
– Presence of ventricular septal defect facilitates mixing
Transposition of the Great
Arteries
• Aorta from right ventricle, pulmonary artery
from left ventricle.
• Cyanosis from birth, hypoxic spells
sometimes present.
• Heart failure often present.
• Cardiac enlargement and diminished
pulmonary artery segment on x-ray.
Transposition of the Great
Arteries
• Anatomic communication must exist
between pulmonary and systemic
circulation, VSD, ASD, or PDA.
• Untreated, the vast majority of these infants
would not survive the neonatal period.
Transposition of the Great Arteries
Clinical Manifestations
• Cyanosis, tachypnea are most often recognized within
the 1st hrs or days of life.
• Hypoxemia is usually moderate to severe, depending on
the degree of atrial level shunting and whether the ductus
is partially open or totally closed.
• Physical findings, other than cyanosis, may be remarkably
nonspecific.
• Murmurs may be absent, or a soft systolic ejection
murmur may be noted at the midleft sternal border.
d-Transposition of the Great Arteries
• Chest film
– Oval-shaped heart
– Narrow mediastinum
– Normal or increased pulmonary vascular markings
D-Transposition of the Great Arteries
This condition is a medical emergency,
and only early diagnosis and appropriate intervention can avert the
development of prolonged severe hypoxemia and acidosis,
which lead to death
Treatment
When transposition is suspected, an infusion of prostaglandin E1
should be initiated immediately to maintain patency of the ductus
arteriosus and improve oxygenation.
 Endotracheal intubation
 Infants who remain severely hypoxic or acidotic despite
prostaglandin infusion should undergo Rashkind balloon atrial
septostomy
 A Rashkind atrial septostomy is also usually performed in all patients
in whom any significant delay in surgery is necessary.
Preventing Birth
Defects
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Stop smoking
Avoid drinking alcohol while pregnant
Take a daily vitamin containing folic acid
Check with your doctor to make sure any medication
(over-the-counter or prescription) is safe to take during
pregnancy
• Stop use of any illegal or "street" drugs
Thank you for
attention!