CONGENITAL HEART

DISEASE
 Definition
 Congenital Cardiovascular malformations
generally are the result of aberrant
embryonic development of normal structure
or failure of such a structure to progress
beyond an early stage of embryonic or fetal
development.
 Malformations are due to complex

multifactorial genetic and environmental

factors.
 Causes Congenital Heart Disease
In the majority of people, the cause of congenital heart disease is
unknown.
However, there are some factors that are associated with an
increased chance of getting congenital heart disease.

These risk factors include:


Genetic or chromosomal abnormalities in the child such as
Down syndrome.

Taking certain medications or alcohol or drug abuse during
pregnancy.

Maternal viral infection, such as rubella (German measles) in the
first trimester of pregnancy.

The risk of having a child with congenital heart disease

is higher if a parent or a sibling has a congenital heart
defect -- the risk increases from eight in 1000 to 16 in
1000.
 Causes Congenital Heart Disease
Associated with embryogenesis

1st heart of embryo: 1 chamber ( sac )

Atrium and ventricle

2 atriums and 2 ventricles

Disorder of embryogenesis: Viral infection

during 1st trimester
Unknown disorders affecting vessels
and heart structure
Congenital heart disease is often divided into two types:
cyanotic (blue discoloration caused by a relative lack of
oxygen) and
non-cyanotic.
The following lists cover the most common of the congenital heart
diseases:
Cyanotic:

Tetralogy of Fallot

Transposition of the great vessels

Tricuspid atresia

Total anomalous pulmonary venous return

Truncus arteriosus

Hypoplastic left heart

Hypoplastic right heart

Some forms of total anomalous pulmonary venous
return

Ebstein's anomaly and Eisenmeiger’s syndrome
 Non-cyanotic:

Ventricular septal defect (VSD)

Atrial septal defect (ASD)

Patent ductus arteriosus (PDA)

Aortic stenosis

Pulmonic stenosis

Coarctation of the aorta

Atrioventricular canal (endocardial cushion
defect)

These problems may occur alone or together.
Ventricular septal defect
Ventricular septal defect is the
most common chd in infants and
children. It occurs with similar
frequency in boys and girls. 25 to
40%of such defects close
spontaneously when the child is
2 years.90% of those that
eventually close when the child
is 10
Anatomically, 70% are located in
the membranous portion of the
interventricular septum, 20% in
the muscular portion of the
septum, 5 %t just below the
aortic valve (thereby
undermining the valve annulus
and causing regurgitation), and
5% near the junction of the
mitral and tricuspid valves (so-
called atrioventricular canal
defects)
Ventricular septal defect

Localised in central part, ie fibrosis
of part of septum

There is flow of blood from LV to RV

Therefore increase volume of blood
to pulmonary artery and thus volume
associated lung hypertension
develops

Gradient between LV and RV sia
bout 100mmHG, in middle of systole
it is 120mmHg ( as in aorta )

Pressure in RV is about 50mmHg

During diastole this gradient is
equal.

This big gradient produce turbulent
flow through osteum ( defect )

Thus patient develops intensive
systolic murmur localized under
sternum
VSD Classification
 Involving the crista supraventricularis, termed
infundibular (outlet) VSD - 30%

 Pars atrioventriculare of septum membranaceum,

atrioventricular septal defect (inlet VSD) - 2%
 Pars interventriculare of septum membranaceum,
termed membranous VSD - 15%
 Smooth posterior septum or smooth VSD - 49%
 Trabeculated posterior septum, termed trabecular
VSD - 4%
Symptoms:

Shortness of breath

Fast breathing

Hard breathing

Paleness

Failure to gain weight

Fast heart rate

Pounding heart

Sweating while feeding

Frequent respiratory infections
Exams and Tests
Listening with a stethoscope usually reveals a heart murmur (the sound of the blood
crossing the hole). The loudness of the murmur is related to the size of the defect
and amount of blood crossing the defect.
ECG: shows signs of an enlarged left ventricle
paradoxical situation
QRS complex not changes if the defect is not along the branch as the same volume
flows out of LV as RV now
X-ray: ↑ heart size to left and right side ( due to equivalent load )
Echocardiogram -- used to make a definite diagnosis

Catherization:Venous blood seen in RA ↑ oxygenated blood in RV

(rarely needed, unless there are concerns of high blood pressure in the lungs, in
which case surgery to close the defect is generally not recommended)Symptoms

ECG & CXR
ECG: Patients with small defects may have normal ECGs. Normal QRS axis
is the rule in most patients with VSD.
Atrial arrhythmias (uncommon)
 Left ventricular hypertrophy
 Marked left axis deviation (endocardial cushion defect)

 Chest roentgenographic findings

 Left ventricular prominence
 Prominent pulmonary vasculature (shunt vessels)
 Enlarged main pulmonary arteries
 Left atrial enlargement
 Small aortic knob
 Patients with marked pulmonary hypertension or infundibular
 stenosis
 Right ventricular hypertrophy by ECG
 Right ventricular enlargement by chest x-ray
 Marked enlargement of main pulmonary artery segment
 Reduced pulmonary vasculature
ECG in VSD
 ECHO
Defective Septum easily
visualized
This is an ultrasound showing a ventricular septal defect pattern of the fetal
heartbeat. Some ultrasound machines have the ability to focus on different areas of
the heart and evaluate the heartbeat. This is useful in the early diagnosis of
congenital heart abnormalities.
 Treatment
If the defect is small, no treatment is usually
needed.

However, the baby should be closely monitored by

a health care provider to make sure that the hole
eventually closes properly and
signs of heart failure do not occur.

With congestive heart failure, medications such as

digitalis (digoxin) and
diuretics may be prescribed.

Regardless of the size of the defect, all children

with a VSD need to take antibiotics before
undergoing dental work and certain other invasive
procedures.
Treated surgical
Indication is ↑ of right chamber 2 times
( if 3 times is it associated with ↑ pressure in right
side )

Surgery is done when there is increase 2 times

because in persons this defect can close by
itself during some years especially during puberty.

If symptoms continue despite medication, surgery to

close the defect with a Gore-tex patch is needed.
Some VSDs can be closed with a special device
during a catheterization. Treating a VSD that does
not have symptoms is controversial, and should be
carefully discussed with your health care provider.
Possible Complications

Congestive heart failure

Infective endocarditis (bacterial infection of the heart)

Aortic insufficiency (leaking of the valve that separates the left ventricle from the aorta)

Damage to the electrical conduction system of the heart during surgery (causing
arrhythmias)

Delayed growth and development (failure to thrive in infancy)

Pulmonary hypertension (high blood pressure in the lungs) leading to

failure of the right side of the heart

Outlook (Prognosis)
Many small defects will close on their own.
For those defects that do not spontaneously close,
the outcome is good with surgical repair.
Complications may result if a large defect is not treated.
Atrial septal defect

Atrial septal defect accounts 1/3 of the
cases of congenital heart disease detected
in adults. It occurs in women 2 to3 times as
often as in men.

Anatomically, it may take the form of ostium
secundum, in the region of the fossa ovalis;
ostium primum, in the lower part of the atrial
septum; or sinus venosus, in the upper atrial
septum. Ostium secundum defects make up
75% of all atrial septal defects, ostium
primum defects make up 15 %,&sinus
venosus defects make up 10 %. Additional
cardiac abnormalities may occur with each
type of defect; these include mitral-valve
prolapse (with ostium secundum defects),4
mitral regurgitation (due to a cleft in the
anterior mitral-valve leaflet, which occurs
with ostium primum defects), and partial
anomalous drainage of the pulmonary veins
into the right atrium or venae cavae (with
sinus venosus defects).5 Although most
atrial septal defects result from spontaneous
genetic mutations, some are inherited
An atrial septal defect is a congenital heart defect
where the wall between the right and left atria does not close properly,
leaving a hole between the two atria.

ASD - AUSCULTATION
•Older pts lose pulm ejection
murmur as shunt becomes
bidirectional
• signs of pulm HTN/ CHF may
predominate
Increased flow across the
pulmonary
valve produces a systolic ejection
murmur
and fixed splitting of the second
heart sound.
The hallmark of patients with ASD
is the Fixed
splitting of S2 which may in part
be due to
delayed right bundle conduction.
Increased flow across the
Tricuspid Valve
produces a diastolic rumble at the
mid to
lower right sternal border.
 Intraatrial septum defect
Non closing of foramen Ovale or secondary defect in another place of this septum

Pressure in LA: 10mmHg

Pressure in RA: 0mmgHg

Therefore blood moves from the LA to the RA

Thus summary of blood volume increases in RA which goes to RV, and increased load
here.
Hypertrophy of the RV develops, because supply of bigger volume in Pulmonary
artery.
Spasm of arterioles begin ( Kitief reflex )
Arterial hypertension begins
Clinical symptoms develop
Symptoms

Frequent respiratory infections in children

Difficulty breathing (dyspnea)

Shortness of breath with activity

Sensation of feeling the heart beat (palpitations) in adults
Note: People with small-to-moderate-sized defects may show no symptoms, or not until
middle age or later.
Exams and Tests
Rarely, there may be a palpable pulsation of the pulmonary artery in the chest.
Examination with a stethoscope (auscultation) of the heart usually
reveals abnormal heart sounds.
There may be a murmur caused by the increased blood flow across the pulmonic valve,
and the second heart sound is widely split and fixed.

Signs of heart failure can occur in adults.

If the shunt is large, increased blood flow across the tricuspid valve
(between the right atrium and ventricle) may be responsible
for an additional murmur when the heart relaxes between beats.

Tests that may be performed in the diagnosis of ASD include:

Chest x-ray
Echocardiography (ultrasound of the heart)
Doppler study of the heart
Transesophageal echocardiography (TEE)
Cardiac catheterization
Coronary angiography (for patients over 35 years old)
MRI of heart
ECG - may show atrial fibrillation in adults, right atrial and ventricular enlargement,
or a pattern of delayed electrical conduction in the heart
ECG
CXR and ECHOCARDIOGRAM

ECG:Severe deviation of electrical axis to
right,Hypertrophyof RV or right bundle
break

X-ray:Increase heart size to right,Increase
of LV,Increase of pulmonary artery,Slight
mitral stenosis ( see venous vessels to
borderline of chest )

Echocardiography: Doesn’t give a lot of
Information because interseptal is very thin

Doppler effect: If there is movement the
angle is not equal
Therefore since pressure is very slow,


pathology is very slow and difficult to find



contrast of RA:We see contrast in RA




Catherization of right part of heart:Done
through the subclavian vein,to the Vena
cava inferior and to the RA, and we see
oxygenated blood is more in the Vena cava
inferior
Treatment
ASD may not require treatment if there are few or no symptoms, or if the defect is small.
Surgical closure of the defect is recommended if the atrial septal defect is large,
the heart is enlarged, or symptoms occur.

A relatively new procedure has been developed to close the defect without surgery.
The procedure involves the introduction of an ASD closure device (such as the Amplatzer
device)
into the heart through catheters. A tiny incision is made in the groin to introduce the catheters.
They are then advanced into the heart, where the closure devise is placed across the ASD
and the defect is closed.

All atrial septal defect patients may not be eligible for this procedure. Prophylactic (preventive)
antibiotics should be given prior to dental procedures to reduce the risk of developing infective
endocarditis immediately after surgery for the ASD, but they are not required later on.

Outlook (Prognosis)
With a small-to-moderate atrial septal defect,
a person may live a normal life span without symptoms.
Larger defects may cause disability by middle age because of increased blood flow and
shunting of blood back into the pulmonary circulation.

Possible Complications
Pulmonary hypertension
Arrhythmias, particularly atrial fibrillation
Heart failure
Patent ductus arteriosus
Definition
Patent ductus arteriosus
(PDA) is a condition in
which a blood vessel called
the ductus arteriosus fails
to close normally in an
infant soon after birth.
(The word "patent" means
open.)

The condition leads to

abnormal blood flow
between the aorta and
pulmonary artery, two major
blood vessels surrounding
the heart.
Causes
Before birth, the ductus arteriosus allows blood to bypass the baby's lungs by
connecting the pulmonary arteries (which supply blood to the lungs) with the aorta
(which supplies blood to the body). Soon after the infant is born and the lungs fill with air,
this blood vessel is no longer needed. It will usually close within a couple of days.
If the ductus arteriosus does not close, there will be abnormal blood circulation
between the heart and lungs.

PDA is rare. It affects girls more often than boys. The condition is more common in
premature infants and those with neonatal respiratory distress syndrome. Infants with
genetic disorders, such as Down syndrome, and whose mothers had German measles
(rubella) during pregnancy are at higher risk for PDA.

PDA is common in babies with congenital heart problems,

such as hypoplastic left heart syndrome, transposition of the great vessels,
and pulmonary stenosis
Symptoms
A small PDA may not cause any symptoms.
However, most infants do not tolerate a
PDA and may have symptoms such as:

Bounding pulse

Fast breathing

Poor feeding habits

Shortness of breath

Sweating while feeding

Tiring very easily

Poor growth
Opened Ductus arteriosus
In systole pressure in aorta is 120mmHg
In diastole pressure in aorta is 80mmHg

In opened ductus arteriosus the pressure is 25mmHg

Therefore there is pathological flow all the time

Murmur is known as mechanical murmur

This flow goes to pulmonary artery, thus load on RA, not by volume but by pressure ( ie pressure load )
an dthus there is and increases in size that is not acute, but over a period of time
( ie hypertrophy is gradual ) since the heart tries to compensate this pathology

Pulse is quick
Blood after going to aorta goes quickly to the pulmonary artery.

ECG: Deviation of electrical axis to the right

Hypertrophy of LV

X-ray: Signs of arterial lung hypertension

↑ size to the right
Calcification of vessels ( ductus arteriosus has venous load, but from aorta blood goes
with increased pressure thus destruction of wall chronically and thus calcification develops )

Echocardiography: Cant recognize this defect

Catherization: A lot of information about this pathology is found

Oxygenated blood is seen in the pulmonary artery
 ANGIOGRAPHY
AND COLOR

DOPPLER
The ductus can be well visualized from the left parasternal area (A) with low velocity flow back into the pulmonary artery
from the aorta (B). After therapy with indomethacin the PDA significantly decreases in size (C) with aliasing color Doppler
flow in a smaller jet (D), and a high velocity, restrictive spectral Doppler pattern (E). (MPA = main pulmonary artery, RPA
= right pulmonary artery, Ao = aorta, PDA = patent ductus arteriosus, DA = descending aorta, LPA = left pulmonary artery)
Treatment
Surgical treatment immediately after diagnosis
Can use embolization by endocardiovascular methods to close the duct

NB: ↑ oedema of legs is due to ↑ pressure in venous systems unlike in vulvular diseases.

Eventual Compensation

Izamiyo syndrome, if you close defects you stop the circulation

Oedema

↑ viscosity of blood

defects with lung circulation

chronic problems with blood oxygenation

secondary erythrocytosis

Necessary haem transfusion

The type and timing of surgical
repair depends on
the child's condition
and the type and severity of heart
defects.

In general, symptoms that indicate

that surgery
is needed are:

difficulty breathing because

the lungs are wet,
congested, or
fluid-filled (congestive heart failure)
problems with heart rate or
rhythm (arrhythmias)
excessive work load on heart that
interferes with
breathing, feeding, or sleeping
Outlook (Prognosis)
If a small PDA remains open, heart symptoms may or may not eventually develop.
Persons with a moderate or large PDA will usually develop heart problems sooner
or later unless the PDA is closed.

Closure with medications can work very well in some situations, with few side effects.
Early treatment with medications is more likely to be successful.

Surgery carries its own significant risks. It may eliminate some of the problems of a PDA,
but it can also introduce a new set of problems. The potential benefits and risks should
be weighed carefully before choosing surgery.

Possible Complications
If the patent ductus is not closed, the infant has a risk of developing heart failure,
bleeding in the lungs, problems with lung development, or infective endocarditis --
an infection of the inner lining of the heart
Most children need to stay in the Intensive
Care Unit
for 3 to 7 days and stay in the
hospital for 5 to 14 days. By the time the child
is
transferred out of the intensive care unit, most
of
the
tubes and wires have been removed and he
is
encouraged
to resume many of his daily activities. At the
time of
discharge,
the parents are instructed on activity, how to
care for
the incision and how to give medications
their child
may need to take such as Digoxin, Lasix,
Aldactone
and Coumadin. The child needs at least
several more
weeks at home to recover.
 Aortic stenosis

Aortic stenosis is a heart valve disorder that narrows or obstructs the aortic valve opening.
Narrowing of the aortic valve prevents the valve from opening properly and obstructs the
flow of blood from the left ventricle to the aorta. This can reduce the amount of blood
that flows forward to the body.
The most common pathological finding in patients with symptomatic aortic stenosis
who are younger than 65 years of age is a bicuspid aortic valve, which is found
in 2 to 3 percent of the population.44 It is four times as common in men and boys
as in women and girls. Twenty percent of patients with bicuspid aortic valve have
an associated cardiovascular abnormality,45 such as patent ductus arteriosus or
aortic coarctation. In patients with bicuspid aortic valve, the bicuspid valve has a
single fused commissure and an eccentrically oriented orifice. Although the deformed
valve is not stenotic at birth, it is subjected to abnormal hemodynamic stress,
which may lead to thickening and calcification of the leaflets, with resultant immobility.
In many patients, there is a coexisting abnormality of the medial layer of the
aorta above the valve, which predisposes patients to have dilatation of the aortic root.
The area of the aortic orifice in a normal adult is 3.0 to 4.0 cm2.
Aortic stenosis does not become hemodynamically important unless the valve area
is reduced to approximately 1.0 cm2.
Symptoms

Fainting, weakness, or dizziness with activity

Breathlessness with activity

Sensation of feeling the heart beat (palpitations)

Chest pain, angina-type

Under the chest bone, may move to other areas

crushing, squeezing, pressure, tightness

Pain increases with exercise, relieved with rest

Children born with aortic stenosis may show
symptoms

of shock, poor feeding, failure to thrive, and

shortness of breath

Note: Aortic stenosis may show no symptoms

until late in the course of the disease.
Exams and Tests
The health care provider will be able to feel a vibration or
movement when placing the hand over the heart.
A heart murmur, click, or other abnormal sound is almost always heard through a stethoscope.
The aortic component of the second heart sound is diminished or inaudible, and
a fourth heart sound is present. A harsh systolic crescendo–decrescendo murmur is audible
over the aortic area and often radiates to the neck. As the aortic steno-sis worsens,
the murmur peaks progressively later in systole.

There may be a faint pulse or changes in the quality of the pulse in the neck.
A change in neck pulse is called pulsus parvus et tardus.

Infants and children may be lethargic, sweaty, and have pale skin and fast breathing.
They may also be too small for their age.
Blood pressure may be low.

The following tests may be performed:

Echocardiogram

Doppler ultrasonography

transthoracic echocardiography with Doppler flow permits an accurate assessment of the
severity of the stenosis

and of left ventricular systolic function.

Transesophageal echocardiogram (TEE)

Chest x-ray :Unless the left ventricle dilates, the chest x-ray film demonstrates a normal
cardiothoracic silhouette

ECG :Left ventricular hypertrophy results from gradually worsening aortic stenosis and is
usually evident on electrocardiography.

MRI of the heart

Exercise stress testing

Aortic angiography

Left cardiac catheterization
is performed to determine the severity of aortic stenosis in cases in which it cannot be
assessed noninvasively and to determine whether concomitant coronary artery disease is
present.
Treatment
If there are no symptoms or symptoms are mild, you may only need to be monitored.
If symptoms are moderate to severe, you may need to stay in the hospital.
Infants and children may need immediate surgery.

Medications can include diuretics, digoxin, and other medications to control heart failure.
Symptomatic people may be advised to avoid strenuous physical activity.
People with symptoms of aortic stenosis (difficulty breathing, chest pain, fainting episodes)
should have a physical exam every 6 to 12 months and an ECG performed every 1 to 3 years.

Surgery to repair or replace the valve is the preferred treatment for adults or children
who have symptoms. Even if symptoms are not very bad, the doctor may recommend surgery.
Some high-risk patients are poor candidates for heart valve surgery.

A less invasive procedure called balloon valvuloplasty may be done in adults or children instead.
This is a procedure in which a balloon is placed into an artery in the groin, advanced to the heart,
placed across the valve, and inflated. This may relieve the obstruction caused by the narrowed
valve.

Infants and children may have various forms of surgery. If the diagnosis is isolated aortic stenosis,
the pulmonary valve may be used to replace the aortic valve.
Outlook (Prognosis)
Aortic stenosis can be cured with surgery, although there may be a continued risk for irregular
heart rhythms, which can sometimes cause sudden death. The person may be symptom-free
until complications develop. Without surgery, a patient who has signs of angina or heart failure
may do poorly.

Persons with aortic stenosis, particularly moderate and severe forms, should not participate in
strenuous activities, such as competitive sports.

Possible Complications

Left ventricular hypertrophy (enlargement) caused by the extra work of pushing blood through
the narrowed valve

Left-sided heart failure

Arrhythmias

Endocarditis
 Pulmonary valve stenosis
Pulmonary stenosis constitutes
10 to 12% of chd in adults.
Obstruction of right ventricular
outflow is valvular in 90 %
of patients, and in the remainder
it is supravalvular or subvalvular.
Supravalvular pulmonary stenosis
results from the narrowing of
the pulmonary trunk, its
bifurcation,
or its peripheral branches;
it often coexists with other
congenital cardiac abnormalities
(valvular pulmonary stenosis,
atrial septal defect, ventricular
septal defect,
patent ductus arteriosus,
or tetralogy of Fallot).
It is a common feature of
Definition Williams syndrome
Pulmonary valve stenosis is a condition, usually present at birth (congenital),
in which outflow of blood from the right ventricle (lower chamber) of the
heart is obstructed at the level of the pulmonic valve (the valve which
separates the heart from the pulmonary artery).
Causes
Pulmonary valve stenosis is most often caused by a malformation during fetal development.
The cause is unknown. A narrowing may occur in the pulmonary valve or below the
pulmonary valve at the pulmonary artery.

The defect may occur alone, but is relatively common in connection with other heart defects.
The condition can be mild or severe. It occurs in approximately 10% of patients with
congenital heart disease.

Pulmonary stenosis can also occur later in life as a result of conditions that cause damage

Symptoms
Shortness of breath
Fatigue
Bluish coloration to the skin (cyanosis)
Chest pain
Fainting
Poor weight gain or failure to thrive in infants
Sudden death
Note: There may be no symptoms until the disorder is severe. Symptoms,
when present, may get worse with exercise or activity
or scarring of the heart valves. These include rheumatic fever, endocarditis,
and other disorders
 Exams and Tests
A heart murmur may be heard by stethoscope:
The first heart sound is normal, and the second heart sound is widely
split but moves normally with respiration; its pulmonary component is soft
and delayed. A harsh crescendo–decrescendo systolic murmur that increases
in intensity with inspiration is audible along the left sternal border.
If the valve is pliable, an ejection click often precedes the murmur;
typically, the click softens or disappears with inspiration.
As the stenosis becomes more severe, the systolic murmur peaks later
in systole and the ejection click moves closer to the first heart sound
, eventually becoming virtually superimposed on it.
Tests used in the diagnosis of pulmonary stenosis may include:

Chest x-ray :Post-stenotic dilatation of the main pulmonary artery and diminished pulmonary
vascular markings are evident on radiography. The cardiac silhouette is usually normal in size.
An enlarged cardiac silhouette may be seen if the patient has right ventricular
failure or tricuspid regurgitation

ECG :In cases of moderate or severe pulmonary stenosis, the electrocardiogram
shows right-axis deviation and right ventricular hypertrophy.

Echocardiogram :
right ventricular hypertrophy and paradoxical septal motion during systole are evident.
The site of obstruction can be visualized in most patients. With the use of Doppler flow studies,
the severity of stenosis can usually be assessed,

Cardiac catheterization:unnecessary
Treatment
In some cases, treatment may not be required.

Percutaneous balloon pulmonary dilation (valvuloplasty) has recently

been found quite successful as treatment for the form of pulmonary
valve stenosis that occurs without the presence of other heart defects.

Surgical repair of the defect (heart valve surgery) is usually performed

when the child has reached preschool age. Oxygen may be required prior
to surgery if symptoms are severe.

Medications used before surgery may include prostaglandins (PGE) to

maintain pulmonary blood flow, water pills to remove the excess fluid,
anti-arrhythmics to improve the heart function, and blood thinners to prevent clots.

Outlook (Prognosis)
The outcome may be poor without surgical repair. The outcome is good with successful
surgery.

Possible Complications
Heart failure
Right ventricular hypertrophy (enlargement)
COARCTATION OF AORTA
1. 0.2-0.6 / 1000 live births
2. 5-8 % of all congenital heart
disease
3. associated congenital heart
lesions
a. PDA
b. VSD
c. Bicuspid Aortic valve
d. Mitral valve stenosis
4. Congenital narrowing of upper
descending thoracic aorta
5. Infolding of media, most
prominent opposite ductus > 50%
narrowing needed to be
significant
6. 6.5% of CHD
7. Isolated: M/F = 2:1
8. Coexisting anomalies: M/F =
1:1
9. RAS plays important role in
HTN
Coarctation of the aorta
 The condition, which is two to five times
as frequent in men and boys
as in women and girls, may occur in
conjunction
with gonadal dysgenesis
(e.g., Turner's syndrome), bicuspid aortic
valve,
ventricular septal defect,
patent ductus arteriosus, mitral stenosis
or regurgitation, or
aneurysms of the circle of Willis

Aortic coarctation is rare. It is usually diagnosed

in children or adults under age 40.

Coarctation of the aorta is a birth defect in which the aorta, the major artery from the heart, is
narrowed. The narrowing results in high blood pressure before the point of coarctation and low
blood pressure beyond
the point of coarctation. Most commonly, coarctation is located so that there is high blood
pressurein the upper body and arms and low blood pressure in the lower body and legs.
Symptoms can include localized hypertension, cold feet or legs, decreased exercise
performance, and heart failure.
Symptoms
Symptoms depend on how much blood can flow through the artery.
Other heart defects may also play a role. In severe cases, symptoms
are seen when the baby is very young.
In milder cases, symptoms may not develop until the child has reached adolescence
.
Symptoms include:

Dizziness or fainting

Shortness of breath

Pounding headache

Chest pain

Cold feet or legs

Nosebleed

Leg cramps with exercise

Hypertension (high blood pressure) with exercise

Decreased ability to exercise

Failure to thrive

Poor growth

Note: There may be no symptoms
CLASSIFICATION OF COARC
 1. Group I. isolated coarctation

 2. Group II. Coarctation and VSD

 3. Group III. Coarctation and complex congenital heart disease
 4. Other coarctations
a. pseudocoarctation: tortuous aorta but normal blood flow
surgery for compression or aneurysm only
b. Abdominal coarctation: .5-2% of all coarcts
OLDER CLASSIFICATION
 1. Preductal coarctation
 2. Ductal coarctation
 3. Postductal coarctation: most common in adults.
 Diagnosis
Asymptomatic mostly, sometimes
complain of intermittent claudication
Headache and ventricular failure
Usually manifests between 20-30
years of age and if uncorrected hi risk
of mortality
 Diagnosis
 Physical Findings
 marked development of the upper half of the body as
contrasted with the lower half.
 Normally, leg systolic blood pressure is 10-20 mm Hg higher
than arm pressure. In patients with COARC, arm systolic
blood pressure is much higher than leg pressure.
Simultaneous palpation of the brachial and femoral arteries
demonstrates that the femoral pulse is delayed and of smaller
amplitude.
 Auscultatory findings: early systolic ejection click associated
with systolic, diastolic, or continuous murmurs best heard
over the back in the vicinity of the fourth or fifth thoracic
vertebra either in the middle or just to the left of the spine.
 Continuous murmurs generated by turbulent flow in dilated
intercostal collateral vessels can be heard at various
locations over the entire chest, but they are usually best
heard posteriorly. S3 and S4 are often encountered as well.
 ECG, CXR and Other Diagnostics

Electrocardiographic findings: LVH, Incomplete RBBB, Complete RBBB,
Complete LBBB
Roentgenographic findings: Left ventricular enlargement,Rib notching,
Dilated left sublclavian artery and aortic knob forming a silhouette of the numeral
3

Echocardiography demonstrates increased LV wall thickness and dilatation of
the aortic root. Left ventricular and left atrial dilatation may be present. A
bicuspid aortic valve may be observed. The coarctation itself is usually difficult to
visualize with transthoracic echocardiography in adults. However, the COARC
can often be visualized by transesophageal echocardiography. Largeamplitude
carotid arterial pulsations often are recorded in patients with COARC.

Magnetic resonance imaging

Radionuclide studies. No L-R shunt.

Catheterization and angiography. No L-V shunt in uncomplicated COARC.
Left ventricular filling pressures may be elevated in patients with marked
hypertrophy or failure. Aortography in the left anterior oblique projection
visualizes the COARC and numerous dilated, tortuous collateral vessels. A
bicuspid aortic valve can be identified by aortography.

Criteria for Diagnosis: HTN c higher systolic pressures in the arm than in the
leg, a systolic or continuous murmur heard over the midthoracic spine, and rib
notching noted on the chest x-ray film and Aortography.
MR Angiography
MRA, ANGIOGRAPHY
 CXR
 LSA – left Subclavian artery
 COARC – coarctation
 DA – Descending Aorta

White Arrows point to rib

notching, typical of COARC
Exams and Tests

The health care provider will perform a physical exam

and take your blood pressure in your arms and legs.
Your pulse will be checked.
The pulse in the femoral (groin) area is weaker than the
carotid (neck) pulse.
Sometimes, the femoral pulse may not be felt at all.

The doctor will use a stethoscope to listen to your heart

and check for murmurs.
People with aortic coarctation have a harsh-sounding
murmur that can be heard from the back.
Other types of murmurs may also be present.
A systolic murmur, caused by flow through collateral
vessels, may be heard in the back.
In about 30 percent of patients with aortic coarctation, a
systolic murmur indicating an associated
bicuspid aortic valve is audible at the base.

Coarctation is often discovered during a newborn's first

examination or a well-baby exam.
Taking the pulses in an infant is an important part of the
examination
since there may not be any other symptoms or findings
until the child is older.
Treatment
Surgery is usually recommended. The narrowed part of the aorta will be removed or opened.
If the problem area is small, the two free ends of the aorta may be re-connected.
This is called anastomosis. If a large part of the aorta was removed, a Dacron graft (a synthetic
material) or
one of the patient's own arteries is used to fill the gap. A tube graft connecting two parts of the
aorta may also be used.

Sometimes, balloon angioplasty may be done instead of surgery.

Outlook (Prognosis)
Coarctation of the aorta can be cured with surgery. Symptoms quickly get better after surgery.

However, there is an increased risk for death due to heart problems among those
who have had their aorta repaired. But, without treatment, most people die before age 40.
For this reason, doctors usually recommend that the patient has surgery before age 10.
Most of the time, surgery to fix the coarctation is done during infancy.
Possible Complications

Aortic aneurysm

Aortic dissection

Aortic rupture

Severe hypertension

Endocarditis

Intracerebral hemorrhage

Stroke

Heart failure

Premature development of coronary artery
disease (CAD)

Paraplegia (rare complication of surgery to repair
coarctation)

Injury to the nerve to the larynx

Residual narrowing of the aorta
Atrioventricular canal defect
Atrioventricular canal defect
This is a combination of defects, including a large hole in the center of the
heart and a single common valve instead of the separate tricuspid and
mitral valves. Also called atrioventricular septal defect, this defect is
classified by whether it's only partial, involving only the upper chambers of
the heart, or complete, in which blood can travel freely among all four
chambers of the heart. Both forms allow extra blood to circulate to the
lungs, causing the heart to enlarge.

The condition is often associated with Down syndrome. Infants may also
have trouble breathing and not grow well. Surgery is often done in infancy
to close the hole and reconstruct the valves.
Cyanotic Conditions
Patients with cyanotic congenital heart disease have arterial
oxygen desaturation resulting from the shunting of systemic
venous blood to the arterial circulation.
The magnitude of shunting determines the severity of
desaturation. Most children with cyanotic heart disease
do not survive to adulthood without surgical intervention.
In adults, the most common causes of cyanotic congenital
heart disease are tetralogy of Fallot61 and Eisenmenger's
syndrome.
Tetralogy of Fallot
Tetralogy of Fallot is classified as a cyanotic heart defect
because the condition causes too little oxygen levels in the blood,
which leads to cyanosis (a bluish-purple coloration to the skin).

The classic form of Tetralogy includes 4 defects within the heart structures:

Ventricular septal defect (hole between the right and left ventricles)

Narrowing of the pulmonary outflow tract (tube that connects the heart with the lungs)

An aorta (tube that carries oxygenated blood to the body) that grows from both ventricles,
rather than exclusively from the left ventricle

A thickened muscular wall of the right ventricle (right ventricular hypertrophy)

At birth, infants may not show the signs of the cyanosis, but later may develop
sudden frightening episodes (called "Tet spells") of bluish skin from crying or feeding.

Tetralogy of Fallot occurs in approximately 5 out of 10,000 infants.

The cause of most congenital heart defects is unknown. Multiple factors seem to be involved.
Prenatal factors associated with higher than normal risk for this condition include maternal
rubella
or other viral illnesses during pregnancy, poor prenatal nutrition, maternal alcoholism,
mother over 40 years old, and diabetes.

There is a high incidence of chromosomal disorders in children with tetralogy of Fallot,

such as Down syndrome and Di George's syndrome
(a partial gene deletion that results in heart defects, low calcium levels, and immune deficiency.)
Symptoms

Difficult feeding (poor feeding habits)

Failure to gain weight

Poor development

Cyanosis which becomes more pronounced during periods ofagitation

Passing out

Sudden death

Clubbing of fingers (skin or bone enlargement around the finger nails)

Squatting during episodes of cyanosis
Exams and Tests
Patients with tetralogy of Fallot have cyanosis and digital clubbing, the severity of which is
determined
by the degree of obstruction of the right ventricular outflow tract. The peripheral pulses are
normal.
A right ventricular lift or tap is palpable. In some patients, a systolic thrill (caused by turbulent
flow
across the right ventricular outflow tract) is palpable. The first heart sound is normal,
but the second heart sound is single, since its pulmonary component is inaudible.
An aortic ejection click (due to a dilated, overriding aorta) may be heard.
A systolic ejection murmur, audible along the left sternal border, is caused by the
obstruction of right ventricular outflow. The intensity and duration of the murmur are inversely
related
to the severity of the obstruction of right ventricular outflow; a soft, short murmur
suggests that severe obstruction is present.

Tests may include:


EKG (electrocardiogram) may show the thickening of the right ventricle muscle

CBC may show an increase in red blood cells

Chest x-ray may show a "boot shaped" heart and dark lungs

Cardiac catheterization helps show blood vessels in the lungs and heart

Echocardiogram provides a definite diagnos
Treatment
Surgery to repair heart defects is always done when the infant is very young.
Sometimes more than one surgery is needed. The first surgery may be done to
help increase blood flow to the lungs, and a surgery to correct the
problem is done at a later time. Corrective surgery is done to widen
part of the narrowed pulmonary tract and close the ventricular septal defect.

Tips for parents of children with tetralogy of Fallot:

If a child does become blue, immediately place the child on his or

her side and put the knees up to the chest. Calm the baby and seek medical attention
Feed the child slowly
Give smaller, more frequent meals
Decrease the child's anxiety by remaining calm
Minimize crying by trying to anticipate the child's needs
Recruit others to care for the child to prevent yourself from becoming exhausted
Outlook (Prognosis)
Most cases can be corrected with surgery. Babies that have surgery usually do well.
Without surgery, death usually occurs when the person reaches age 20.

Patients who have continued, severe leakiness of the pulmonary valve may need the
valve replaced
Regular follow up with a cardiologist to monitor for life-threatening arrhythmias
(irregular heart rhythms) is recommended.
Possible Complications
Delayed growth and development
Seizures during periods of insufficient oxygen
Transposition of the great vessels
Definition
Transposition of the great vessels is a congenital heart defect in which
the 2 major vessels that carry blood away from the heart -- the aorta and the pulmonary artery
-- are switched (transposed)
Transposition of the great vessels is a cyanotic heart defect.
This means there is too little oxygen in the blood that is pumped from the heart to the rest of
the body.
Low blood oxygen leads to cyanosis (a bluish-purple color to the skin) and shortness of
breath.

In normal hearts, blood goes through the lungs, then to the rest of the body, then back to the
lungs again.
In transposition of the great vessels, the blood does not travel from the lungs to the body and
back to the lungs again. Instead, blood flow in the lungs and blood flow in the body occurs
independently.
So the blood with oxygen from the lungs does not get to the heart, where it feeds the rest of
the body.
The blood that goes through the body lacks oxygen.

Symptoms appear at birth or very soon afterwards. How bad the symptoms are depend on the
type and
size of the heart defect and how much oxygen moves through the body's general blood flow.
The condition affects approximately 40 out of 100,000 infants.
It is the most common cyanotic heart defect identified in the first week of life
Symptoms
Blueness of the skin
Shortness of breath
Poor feeding
Clubbing of the fingers or toes

Exams and Tests

The health care provider may detect a heart murmur (holosystolic) while listening to the
chest with a stethoscope.
The baby's mouth and skin would be a blue color.

Tests often include the following:

Chest x-ray
Cardiac catheterization
ECG
Echocardiogram (if done before birth, it is called a fetal echocardiogram)
Pulse oximetry (to check blood oxygen level)
Treatment
A medicine called prostaglandin will be immediately given to the baby. The medicine
is given to the baby through an IV (intravenous line). This medicine helps blood flow
through the lungs and body.

Surgery to temporarily adjust the affected blood vessels may be needed shortly after
birth. In most hospitals, a type of surgery called an arterial switch procedure can be
used to permanently correct the problem within the first week of life.

Outlook (Prognosis)
Improvement in symptoms and growth and development is seen after surgical
correction of the defect. If corrective surgery is not performed, the life expectancy is
shortened.

Possible Complications
Arrhythmias
Heart valve problems
Coronary artery disease
Ebstein's Anomaly
Ebstein's anomaly
This is a defect of the tricuspid valve, which controls blood flow between the heart's
right atrium and right ventricle
. The valve is positioned lower than normal into the ventricle instead of remaining
between the atrium and the ventricle
. Consequently, the ventricle is too small and the atrium too large, and neither
functions properly.
The valve is also malformed, often allowing blood to leak from the ventricle into the
atrium.
This defect often occurs along with other heart defects, including patent foramen
ovale, atrial septal defec
t or Wolff-Parkinson-White syndrome.

The tricuspid valve is usually regurgitant but may be stenotic.

Eighty percent of patients with Ebstein's anomaly have an interatrial
communication
(atrial septal defect or patent foramen ovale) through which right-to-
left shunting of blood may occur
 clinics
The severity of the hemodynamic derangements in patients with
Ebstein's anomaly depends
on the degree of displacement and the functional status of the
tricuspid-valve leaflets.

Patients with mild apical displacement of the tricuspid leaflets have

normal valvular function,
whereas those with severe tricuspid-leaflet displacement or
abnormal anterior leaflet attachmen
t, with valvular dysfunction, have elevated right atrial pressure and
right-to-left interatrial shunting.

Similarly, the clinical presentation of Ebstein's anomaly varies from

severe heart failure in a fetus
or neonate to the absence of symptoms in an adult in whom it is
discovered incidentally
On physical examination, the severity of cyanosis depends on the magnitude of right-to-left
shunting
The first and second heart sounds are widely split, and a third or fourth heart sound is often
present,
resulting in a "triple" or "quadruple" rhythm. A systolic murmur caused by tricuspid regurgitation is
usually present at the left lower sternal border. Hepatomegaly
(resulting from passive hepatic congestion due to elevated right atrial pressure) may be present.
Ecg
Tall and broad P waves are common on the electrocardiogram, as is right bundle-branch block.
First-degree atrioventricular block occurs frequently. Since about 20 percent of
patients with Ebstein's anomaly have ventricular preexcitation by way of an accessory
electrical pathway between the atrium and ventricle (Wolff–Parkinson–White syndrome), a delta
wave may be present.
x -ray
The radiographic findings depend on the severity of the anatomical abnormality.
In mild cases, the heart size and pulmonary vasculature are normal.
In more severe cases, marked cardiomegaly, which is largely due to right atrial enlargement, is
present.
In severe cases (with little functional right ventricle and marked right-to-left shunting), pulmonary
vascular markings are decreased.
Echo&doppler
Echocardiography is used to assess right atrial dilatation, anatomical displacement and distortion
of the tricuspid-valve leaflets
, and the severity of tricuspid regurgitation or stenosis; in addition, the presence and magnitude of
interatrial shunting can be determined
(by color Doppler imaging or bubble study), as can the presence of associated cardiac
abnormalities.
Electrophysiologic evaluation is warranted in patients with atrial tachyarrhythmias.
TREATMENT

The management of Ebstein's anomaly centers on the prevention and treatment of complications.
Prophylaxis against infective endocarditis is recommended.
Patients with symptomatic heart failure are given diuretic agents and digoxin.
Those with atrial arrhythmias may be treated pharmacologically or with catheter ablation
(if an accessory pathway is present). Ablation of accessory pathways has a lower rate of success
in patients with Ebstein's anomaly than in those with structurally normal hearts,
and the risk of recurrence of arrhythmia is higher.
In severely ill infants with Ebstein's anomaly, an arterial shunt from the systemic circulation
to the pulmonary circulation is created to increase pulmonary blood flow, thereby decreasing
cyanosis.
Further surgery to create a univentricular heart (i.e., by the Fontan procedure)
may also be considered in neonates.

Repair or replacement of the tricuspid valve in conjunction with closure of the interatrial
communication
is recommended for older patients who have severe symptoms despite medical therapy.
In addition, repair or replacement should be considered for patients with less severe symptoms
who have cardiac enlargement, since this condition has a poor prognosis.
When possible, valve repair is preferable to valve replacement, because it is associated
with lower mortality and has fewer long-term complications. However, when valve replacement is
required,
a bioprosthesis is preferable to a mechanical prosthesis. The complications of surgery to correct
Ebstein's
anomaly include complete heart block, persistence of supraventricular arrhythmias, residual
tricuspid
regurgitation after valve repair, and prosthetic-valve dysfunction.
Evaluation possible congenital
heart
 ABC’s
 Exam: rate, rhythm, impulse, murmur,
pulses (brachial and femoral)
 Oxygen saturation (pre and postductal)
 ABG
 Chest xray
 Hyperoxia test
 Echocardiogram
Increased pulmonary flow (Qp)
 Atrialseptal defect (minimal)
 Ventricular septal defect
 Transposition
 Truncus
 Double outlet right ventricle
 Atrioventricular canal
 Patent ductus arteriosus
Truncus arteriosus
Truncus arteriosus
This is a defect in which the normally distinct pulmonary artery and aorta
merge into one single great vessel
(truncus) arising from the right and left ventricles. Also, there's usually a large
ventricular septal defect,
essentially turning the right and left ventricles into a single chamber.
This allows oxygenated and unoxygenated blood to mix. Too much blood may
flow to the lungs,
flooding them and making it difficult to breathe. It can also result in life-
threatening pulmonary hypertension.

Surgery is needed to close the septal defect with a patch and to separate the
pulmonary arteries from the trunk.
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome
In this condition, the left side of the heart is underdeveloped (hypoplastic),
including the aorta, aortic valve, left ventricle and mitral valve.
As a result, the body doesn't receive enough oxygenated blood.
In the first few days after a baby is born, the ductus arteriosus remains
open
(patent), allowing normal circulation, so the baby may seem fine initially.
But when the ductus arteriosus naturally closes, signs and symptoms
begin,
including a bluish cast to the skin from lack of oxygen, difficulty breathing
and poor feeding
. This condition may be accompanied by an atrial septal defect.

Treatment options for this life-threatening condition are a heart transplant

or a multistage surgical procedure done during the first few years of life.