Congenital Heart Disease  Day 15 (2nd – 3rd week)

 General term used to describe abnormalities of

› First heart field (FHF) cells form a
the heart or great vessels that are present from
crescent shape in the anterior embryo
birth
with second heart field (SHF) cells near
the FHF
 Arise from faulty embryogenesis during
gestational weeks 3 through 8
 Day 21 (3rd week)
 Individual chambers or discrete regions of the
heart are mostly affected › SHF cells lie dorsal to the straight heart
tube and begin to migrate into the
› Ex. Infants born with a defect in septation anterior and posterior ends of the tube to
(“hole in the heart”) form the right ventricle (RV), conotruncus
(CT), and part of the atria (A).
 Atrial Septal Defect (ASD)
 Day 28 (4th week)
 Ventricular Septal Defect (VSD)
› Following rightward looping of the heart
 Stenotic Valvular Lesions tube, cardiac neural crest cells also
migrate into the outflow tract from the
 Abnormalities in the coronary
neural folds to septate the outflow tract
arteries.
and pattern the bilaterally symmetric
aortic arch arteries (III, IV, and VI).
 Some important manifestations can be seen or
produced clinically soon after birth
 Day 50 (7th-8th week)
› Change from fetal to postnatal circulatory
patterns (with reliance on the lungs for › Septation of the ventricles, atria, and
oxygenation birth, rather than the atrioventricular valves (AVV) results in
placenta as in intrauterine life the appropriately configured four-
chambered heart.
 Almost 50% of congenital cardiovascular
Etiology and Pathogenesis
malformations are diagnosed in the first year of
life
 Main known causes consist of sporadic genetic
› Some mild forms may not become abnormalities:
evident until adulthood (e.g., ASD)
› Gene mutations
Incidence
 Affected genes encode proteins
 Estimates range from 4 to 50 per 1000 live births belonging to several different
(approx. 1%) functional classes

 Most prevalent malformation & most common type  Many of these mutations affect
of heart disease among children. genes encoding transcription
factors that are required for
 Higher in premature infants and in stillborns. normal heart development

› Twelve disorders account for about 85%  Ex. GATA4, TBX5, and NKX2-5
of all cases à three transcription factors
that are mutated in some
 “According to statistics, the prevalence of patients with atrial and
congenital heart disease at birth is 5 per 1,000 ventricular septal defects, all
livebirths. It declines rapidly as many of the cases bind to one another and co-
die. At five years of age, the rate is about 1.5 per regulate the expression of target
1,000 and remains at 1.2 per 1,000 at age eight genes that are required for the
and onwards. “ proper development of the heart

Overview of the Cardiac Development

 › Small chromosomal deletions  Pulmonary stenosis

 A notable example is the  Aortic stenosis

deletion of chromosome
22q11.2, which is found in up to LEFT-TO-RIGHT SHUNTS
50% of patients with DiGeorge
syndrome. (The fourth branchial  A shunt is an abnormal communication between
arch and the derivatives of the chambers or blood vessels.
third and fourth pharyngeal
pouches, which contribute to the  Left to right shunts are characterized by a "back-
formation of the thymus, leak" of blood from the systemic to the pulmonary
parathyroids, and heart, develop circulation
abnormally)
 Blood volume and pressure in the pulmonary
 One candidate gene in the circulation become abnormally high
deleted region is TBX1
(regulates the expansion of  If the shunt is significant à progressive damage
cardiac progenitors in the to the pulmonary vasculature and gradual
second heart field) development of irreversible pulmonary
hypertension
› Additions or deletions of whole
chromosomes (trisomies and  The pressure in the pulmonary circuit may
monosomies) ultimately exceed the systemic pressure with
reversal of blood flow from the right side of the
 Other important genetic causes circulation to the left (Eisenmenger syndrome).
of congenital heart disease
include chromosomal  The most commonly encountered left-to-right
aneuplodies, particularly Turner shunts include ASDs, VSDs, patent ductus
syndrome (monosomy X) and arteriosus, and atrioventricular septal defects
trisomies 13, 18, and 21
ATRIAL SEPTAL DEFECT
Clinical Features
 An abnormal, fixed opening in the atrial septum
 The varied structural anomalies in congenital caused by incomplete tissue formation that allows
heart disease fall primarily into three major communication of blood between the left and right
categories: atria

› Malformations causing a left-to-right  Usually asymptomatic until adulthood

shunt
 4:1 ratio of females to males
 Atrial septal defect
 Frequently associated with Ellis-van Creveld and
 Ventricular septal defect Holt-Oram syndromes

 Patent Ductus Arteriosus  Associated with prolapsing mitral valve

› Malformations causing a right-to-left  3 major types (according to location):

shunt
i. Secundum ASDs
 Tetralogy of Fallot
o 90% of all ASDs
 Transposition of the Great
o From a deficient or fenestrated
Arteries ( TOGA )
oval fossa near the center of the
atrial septum.
 Truncus Arteriosus
o Usually not associated with
› Malformations causing an obstruction.
other anomalies

 Coarctation of the Aorta

 o May be of any size, be single or  ASDs are generally well tolerated
multiple, or be fenestrated.
› Usually do not become symptomatic
ii. Primum ASDs before age 30;

o 5% of ASDs › Unusual irreversible pulmonary

hypertension is unusual
o Occur adjacent to the AV valves
 Mortality is low, and long-term survival is
o Usually part of endocardial comparable to that of a normal population
cushion defect
Diagnosis
o Frequently associated with cleft
mitral and tricuspid valves  Chest x-ray

o Tends to act like VSD › Helpful in judging the size of the left-to-
physiologically right shunt in patients with ASD

iii. Sinus venosus defects › Small Shunts: Normal x-ray

o 5% of ASDs › ↑ Shunt size, ↑ Heart size, ↑ pulmonary

vascular markings
o Located near the entrance of
the superior vena cava › Right ventricular hypertrophy may be
seen
o Associated with anomalous
pulmonary venous return to the › But, not helpful in distinguishing the
right atrium various types of ASD

 ECG

› May show some right bundle branch

block and right axis deviation.

› Small LàR shunts (Secundum, sinus

venosus ASDs, and the unroofed
coronary sinus): ECG may be normal

› Moderate to Large LàR : ECG will show

evidence of right atrial and RV
hypertrophy and right axis deviation.

› Ostium primum à easily distinguished à

like other forms of endocardial cushion
defects, they are characterized by an
Clinical Features initial counterclockwise frontal plane loop
and left axis deviation.
 Pulmonary vascular resistance < Systemic
vascular resistance  Echocardiography

 Compliance (distensibility) of the right ventricle is › Assesses the degree of right atrial and
much greater than that of the left RV enlargement and hypertrophy

 Pulmonary blood flow may be two to four times › Transesophageal echocardiography

normal àcan diagnose sinus venosus defects

 Excessive flow through the pulmonary valve à

Murmur
 › Transthoracic echocardiography à can
only give a clue as to the presence of a
sinus venosus ASD
› Doppler Techinque
o Approximates the elevation of
pulmonary artery pressure
Progression of Atrial Septal Defect
 ASDs may occur in isolation or may be associated
with other malformations:
› Spontaneous closure of ASDs is rare
after the first 2 years of life.
› Increased flow to the pulmonary
circulation eventually leads to pulmonary
hypertension, usually by the 4th decade
› In severe cases the shunt can eventually
reverse so that blood bypasses the lungs
- this is termed Eisenmenger's syndrome
and is a poor prognostic factor.
Treatment
 For Secundum ASDà by direct suture or patch
closure and device closure by cardiac
catheterization** techniques
› It is important that a rim of septal tissue
be present around the entire
circumference of the defect to stabilize
the device.
› Long term outcome remains unknown
 For Primum ASD à by patch closure and in most
cases, the cleft in the mitral valve leaflet is
repaired
 For Sinus Venosus ASD à the anomalous
drainage of the right upper pulmonary vein is
corrected, and the ASD is closed
 The usual age for closure of an uncomplicated
ASD is 2 to 4 years.
› In rare cases of infants with ASD and
heart failure, surgery should be
performed during infancy.
 Endocarditis prophylaxis is recommended for all
types of ASDs except secundum
**Cardiac catheterization
› Invasive test wherein a small tube
“catheter” is inserted into a blood vessel
and passes the tube towards the heart
› Used to deliver and implant devices to
close secundum ASDs without the need
for open heart surgery
› Measures important pressures in the
heart and lungs
VENTRICULAR SEPTAL DEFECT
Definition
 Ventricular septal defect is a hole in the wall
between the right and left ventricles of the heart.
This abnormality usually develops before birth and
is found most often in infants.
Normal blood flow
 Normally, unoxygenated blood from the body
returns to the right half of the heart, that is the
right atrium, then the right ventricle, which pumps
the blood to the lungs to absorb oxygen. After
leaving the lungs, the oxygenated blood returns to
the left half of the heart, that is the left atrium, then
the left ventricle, where it is pumped out to provide
oxygen to all the tissues of the body.
Blood flow during ventricular septal defect
 A ventricular septal defect can allow newly
oxygenated blood to flow from the left
ventricle, where the pressures are higher, to the
right ventricle, where the pressures are lower, and
mix with unoxygenated blood. The mixed blood in
the right ventricle flows back or recirculates into
the lungs. This means that the right and left
ventricles are working harder, pumping a greater
volume of blood than they normally would.
 Eventually, the left ventricle can work so hard that
it starts to fail. It can no longer pump blood as well
as it did. Blood returning to the heart from the
blood vessels backs up into the lungs, causing
pulmonary congestion, and further backup into the
body, causing weight gain and fluid retention.
Overall, this is called congestive heart failure.
 If the VSD is large and surgically uncorrected,
pressure can build excessively in the lungs, called
pulmonary hypertension. The higher the lung or
pulmonary pressure, the greater the chance of
blood flowing from the right ventricle to the left
ventricle, backwards, causing unoxygenated blood
 to be pumped to the body and cyanosis (blue
skin).
 The ventricular septal defect may not be heard
with a stethoscope until several days after birth.
This is because a newborn's circulatory system
changes during the first week with drop in the lung
or pulmonary pressure, creating the greater
pressure differential between the 2 ventricles, thus
greater left-to-right shunt and audible murmur.
 Ventricular septal defects are the most common
congenital heart defects in infants.
 The condition occurs in about 25% of all infants
born with a heart defect.
 These defects are more common in premature
infants.
Cause
 Malformation of the heart that occurs while the
infant is developing in the womb.
 There may be just one hole or several holes in the
septum.
 The septum itself is divided into multiple areas,
including the membranous part, the muscular part,
and other areas called the inlet and outlet. Any or
all of these parts can have a hole.
 The location of the hole depends on where the
malformation takes place during fetal
development.
 The most common type of ventricular septal
defect is the membranous variant. In this type, the
hole is located below the aortic valve, which
controls flow of blood from the left ventricle into
the main artery of the body, the aorta.
Symptoms
 Small holes in the ventricular septum usually
produce no symptoms but are often recognized by
the child's health care provider when a loud heart
murmur along the left side of the lower sternum is
heard. Large holes typically produce symptoms 1-
6 months after an infant’s birth.
The left ventricle begins to fail, producing the following
symptoms:
 Fast breathing
 Sweating
 Pallor
 Very fast heartbeats
 Decreased feeding
 Poor weight gain
Typical symptoms of pulmonary hypertension:
 Fainting
 Shortness of breath
 Chest Pain
 Cyanosis
Exams and Tests
 A ventricular septal defect is detected on physical
examination by a systolic murmur audible with a
stethoscope along the lower left sternal or breast
bone border. It is related to the oxygenated blood
“swishing” through the hole or VSD into the right
ventricle.
 The presence of a hole in the heart can be
confirmed by echocardiogram.
 It can quantitate the size of the left-to-right shunt
by enlargement of the left ventricle, pressure in
the lungs, and actually estimate the degree of
shunting by an empirical formula.
 Chest x-ray is useful to see if the overall heart size
is enlarged, plus evidence of fluid in the lungs or
pulmonary congestion.
 An electrocardiogram is helpful in checking to see
if the left ventricle is the dominant working muscle,
and therefore operate sooner.
 Pressures are measured inside the heart,
especially if any concern was previously raised
over the degree of pulmonary hypertension and
therefore operability. If the lung pressures are very
high and won’t drop with oxygen and additional
vasodilating drugs, the patient may not be
operable.
 If additional abnormalities are possible, a dye
study may be performed to visualize the anatomy
of inside the heart.
Treatment
 Small defects will close spontaneously in 20-25%
  Larger ventricular septal defects do not close as
the child grows. If it does not close, closing the
heart surgically is necessary.
 Surgical closure is typically done before the child
begins preschool.
 Surgery is indicated if medications do not work in
the first few months or years of life, especially if
the child is not growing adequately even with
medications.
 Surgery is more urgent if evidence of pulmonary
hypertension has developed.
Other conditions that may result from VSD:
 Aortic regurgitation: Blood flowing backward from
the aorta into the left ventricle.
 Endocarditis: An infection of the heart valves due
to abnormal blood flow. Because endocarditis is
always possible, medical professionals
recommend that children with ventricular septal
defects routinely receive antibiotics before
undergoing dental procedures or surgery.
 Pulmonary hypertension: An increase in pressure
in the right side of the heart and in the arteries of
the lungs. This is caused by the shunting of blood
from the left to the right ventricle, which increases
the pressure in the right ventricle.
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 condition leads to abnormal blood flow
between the aorta and pulmonary artery, two
major blood vessels that carry blood from the
heart.
Blood flow
 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 more common in premature infants and
those with neonatal respiratory distress syndrome.
Infants with genetic disorders, such as Down
syndrome, and whose mothers had 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
 Bounding pulse
 Fast breathing
 Poor feeding habits
 Shortness of breath
 Sweating while feeding
 Tiring very easily
 Poor growth
Treatment
 Sometimes, a PDA may close on its own.
Premature babies have a high rate of closure
within the first 2 years of life. In full-term infants, a
PDA rarely closes on its own after the first few
weeks.
 A transcatheter device closure is a minimally
invasive procedure that uses a thin, hollow tube.
The doctor passes a small metal coil or other
blocking device through the catheter to the site of
the PDA. This blocks blood flow through the
vessel. Such endovascular coils have been used
successfully as an alternative to surgery.
 Surgery may be needed if the catheter procedure
does not work or cannot be used. Surgery
involves making a small cut between the ribs to
repair the PDA.
 If the patent ductus is not closed, the infant has a
risk of developing heart failure, pulmonary artery
hypertension, or infective endocarditis (an
infection of the inner lining of the heart).
RIGHT TO LEFT CARDIAC SHUNT:
  A right-to-left shunt is a cardiac shunt which
allows, or is designed to cause, blood to flow from
the right heart to the left heart.
 Used both for the abnormal state in humans and
for normal physiological shunts in reptiles.
Commonly found in turtles.
 Small physiological, or "normal", shunts are seen
due to the return of bronchial artery blood and
coronary blood through the Thebesian veins,
which is deoxygenated, to the left side of the
heart.
A right to left shunt occurs when:
1. There is an opening or passage between the atria,
ventricles, and/or great vessels.
2. Right heart pressure is higher than left heart
pressure and/or the shunt has a one-way valvular
opening.
• A right to left shunt usually causes hypoxemia and
is usually characterized by frequent chest
infections.
• The most common cause of right-to-left shunt is
the Tetralogy of Fallot, a congenital cardiac
anomaly characterized by four co-existing heart
defects.
The Four Defects Include:
1. Pulmonary stenosis (narrowing of the pulmonary
valve and outflow tract, obstructing blood flow
from the right ventricle to the pulmonary artery)
2. Overriding aorta (aortic valve is enlarged and
appears to arise from both the left and right
ventricles instead of the left ventricle, as occurs in
normal hearts)
3. Ventricular septal defect (an abnormal hole
between the ventricles)
4. Right ventricular hypertrophy (thickening of the
muscular walls of the right ventricle, this is a result
of the increased amount of work the heart has to
do)
THE TETRALOGY OF FALLOT
 The most common heart defect in children. The
condition causes mixing of oxygen-poor blood with
the oxygen-rich blood being pumped out of the
heart and into the circulatory system of blood
vessels
 The blood leaving the heart has less oxygen than
is needed by the organs and tissues of the body, a
condition called hypoxemia.
 Lack of oxygen causes cyanosis, a bluish
discoloration of the skin, lips, and membranes
inside the mouth and nose.
 Accounts for 10-15% of all congenital (newborn)
heart defects. Infants with this abnormality
develop signs of the condition very early in life.
The 4 Abnormalities that constitute the Tetralogy are:
1. Right ventricular hypertrophy: Narrowing or
blockage of the pulmonary valve and/or muscle
under the pulmonary valve coming out of the right
ventricle. This restriction to blood outflow causes
an increase in right ventricular work and pressure,
leading to right ventricular thickening or
hypertrophy.
2. Ventricular septal defect (VSD): This is a hole in
the heart wall (septum) that separates the 2
ventricles. The hole is usually large and allows
oxygen-poor blood in the right ventricle to pass
through, mixing with oxygen-rich blood in the left
ventricle.
› This poorly oxygenated blood is then
pumped out of the left ventricle to the
rest of the body. The body gets some
oxygen, but not all that it needs. This lack
of oxygen in the blood causes cyanosis.
3. Abnormal position of the aorta: The aorta, the
main artery carrying blood out of the heart and
into the circulatory system, exits the heart from a
position overriding the right and left ventricles. (In
the normal heart, the aorta exits from the left
ventricle.) This is not of major importance in
infants.
4. Pulmonary valve stenosis (PS): The major issue
with tetralogy of Fallot is the degree of pulmonary
valve stenosis, since VSD is always present. If the
stenosis is mild, minimal cyanosis occurs, since
blood still mostly travels to the lungs.
› However, if the PS is moderate to
severe, a smaller amount of blood
reaches the lungs, since most is shunted
right-to-left through the VSD.
Causes
  Tetralogy of Fallot occurs during development of comes back to the left without ever picking up
the fetus, before birth, and is therefore termed a side of the heart and oxygen in the lungs.
congenital birth defect. travels out the aorta to the
body.
 An error occurs as the fetal heart separates into
the chambers, valves, and other structures that
Frequency
make up the normal human heart. No one is really
sure why this error occurs.
 Despite its overall low prevalence,
transposition of the great arteries is the
Symptoms
most common etiology for cyanotic
 The skin, lips, and mucous membranes inside the congenital heart disease in the newborn
mouth and nose take on a noticeably dusky blue
 5-7 %
color.
 The overall annual incidence is 20-30 per
 A small number of children with tetralogy of Fallot
100,000 live births, and inheritance is
never turn blue at all, especially if the pulmonary
multifactorial.
stenosis is mild, the ventricular septal defect is
small, or both.
 Transposition of the great arteries is
isolated in 90% of patients and is rarely
 Only some infants with very severe obstruction of
associated with syndromes or
the right ventricle outflow turn blue at birth.
extracardiac malformations.
 In some children, the cyanosis is quite subtle and
 This congenital heart defect is more
may go undetected for some time.
common in infants of diabetic mothers.
TRANSPOSITION OF THE GREAT VESSELS
Mortality/Morbidity
 Congenital heart defect in which the two major  The mortality rate in untreated patients is
vessels that carry blood away from the heart -- the
approximately 30% in the first week, 50%
aorta and the pulmonary artery -- are switched
in the first month, and 90% by the end of
(transposed).
the first year.
CYANOTIC HEART DEFECT
 With improved diagnostic, medical, and
surgical techniques, the overall short-
à means there is decreased oxygen in the blood
term and midterm survival rate exceeds
that is pumped from the heart to the rest of the body.
90%.
Low blood oxygen leads to cyanosis (a bluish-purple
color to the skin) and shortness of breath.
Sex

 Is the most common cyanotic congenital heart  TGA has a 60-70% male predominance.
lesion that presents in neonates.
Causes
 The hallmark of transposition of the great arteries
is ventriculoarterial discordance, in which the  Most congenital heart defects is unknown.
aorta arises from the morphologic right ventricle
and the pulmonary artery arises from the  Factors in the mother that may increase the risk of
morphologic left ventricle. this condition include:

TRANSPOSITION OF › Age over 40

NORMAL HEARTS
à Blood that returns
from the body goes
through the right side of
the heart and pulmonary
artery to the lungs to get
oxygen.
à The blood then
GREAT VESSELS
› Alcoholism
à The blood goes to
the lungs, picks up › Diabetes
oxygen, and then goes
right back to the lungs › Poor nutrition during pregnancy (prenatal
without ever going to the
nutrition)
body. Blood from the body
returns to the heart and
goes back to the body
 › Rubella or other viral illness during
pregnancy
Symptoms
 Blueness of the skin (within hours of birth,
progressing rapidly to metabolic acidosis
secondary to poor tissue oxygenation)
 Clubbing of the fingers or toes
 Poor feeding
 Shortness of breath
 The 2nd heart sound (S2) is single and loud.
Pathophysiology
 Systemic and pulmonary circulations are
completely separated.
 After returning to the right heart àdesaturated
systemic venous blood is pumped into the
systemic circulation without being oxygenated in
the lungs;
 Oxygenated blood entering the left heart goes
back to the lungs rather than to the rest of the
body. This anomaly is not compatible with life
unless desaturated and oxygenated blood can mix
through openings at one or more levels (eg, atrial,
ventricular, or great artery level).
Clinical
A. History
B. Physical
 Infants with transposition of the great arteries
(TGA) are usually born at term, with cyanosis
apparent within hours of birth.
 The clinical course and manifestations depend on
the extent of intercirculatory mixing and the
presence of associated anatomic lesions.
› Transposition of the great arteries with intact
ventricular septum:
 Prominent and progressive
cyanosis within the first 24 hours of life is
the usual finding in infants.
› Transposition of the great arteries with large
ventricular septal defect
 Infants may not initially manifest
symptoms of heart disease, although
mild cyanosis (particularly when crying)
is often noted.
 Signs of congestive heart failure
(tachypnea, tachycardia, diaphoresis,
and failure to gain weight) may become
evident over the first 3-6 weeks as
pulmonary blood flow increases.
› Transposition of the great arteries with
ventricular septal defect and left ventricular
outflow tract obstruction
 Infants often present with
extreme cyanosis at birth, proportional to
the degree of left ventricular (pulmonary)
outflow tract obstruction.
 The clinical history may be
similar to that of an infant with tetralogy
of Fallot.
› Transposition of the great arteries
with ventricular septal defect and pulmonary
vascular obstructive disease
 Progressively advancing
pulmonary vascular obstructive disease
can prevent this rare subgroup of
patients from developing symptoms of
congestive heart failure, despite a large
ventricular septal defect.
 Most often, patients present
with progressive cyanosis, despite an
early successful palliative procedure.
 Newborns with transposition of the great arteries
are usually well developed, without dysmorphic
features. Physical findings at presentation depend
on the presence of associated lesions.
› Transposition of the great arteries with intact
ventricular septum
 Infants typically present with progressive
central (perioral and periorbital) cyanosis.
 Other than cyanosis, the physical
examination is often unremarkable.
› Transposition of the great arteries with large
ventricular septal defect
 Cyanosis may be mild initially, although it
is usually more apparent with stress or
crying.
  Upon presentation, infants often have an
increased right ventricular impulse, a
prominent grade 3-4/6 holosystolic
murmur, third heart sound, mid-diastolic
rumble, and a gallop rhythm.
 Hepatomegaly may be present.
› Transposition of the great arteries with
ventricular septal defect and left ventricular
outflow tract obstruction
 Cyanosis is prominent at birth, and the
findings are similar to those of infants
with tetralogy of Fallot.
 A single, or narrowly split, diminished
second heart sound and a grade 2-3/6
systolic ejection murmur may be present.
 Hepatomegaly is rare.
› Transposition of the great arteries with
ventricular septal defect and pulmonary
vascular obstructive disease
 Progressive pulmonary vascular
obstructive disease is not always evident
from physical examination findings.
 Cyanosis is usually present and can
progress despite palliative therapy in the
newborn period.
 No murmur (despite the ventricular septal
defect) or early short systolic ejection
sounds are heard.
 The second heart sound is often single,
with increased intensity.
 In later childhood or adolescence, a high-
pitched, blowing, early decrescendo
diastolic murmur of pulmonary
insufficiency and a blowing apical
murmur of mitral insufficiency are
evident.
Exams and Tests
 The health care provider may detect a heart
murmur while listening to the chest with a
stethoscope. The baby's mouth and skin will be a
blue color.
 Tests often include the following:
› Cardiac catheterization
› Chest x-ray
› ECG
› Echocardiogram (if done before birth, it is
called a fetal echocardiogram)
› Pulse oximetry (to check blood oxygen
level)
Treatment
A. Prostaglandin through IV - helps keep the
ductus arteriosus open, allowing some mixing of
the two blood circulations.
B. Cardiac catheterization (balloon atrial
septostomy)- creates a large hole in the atrial
septum to allow blood to mix.
C. Arterial switch procedure - used to permanently
correct the problem within the baby's first week of
life. This surgery switches the great arteries back
to the normal position and keeps the coronary
arteries attached to the aorta.
Possible Complications
 Arrhythmias
 Coronary artery problems
 Heart valve problems
Prevention
 Women who plan to become pregnant should be
immunized against rubella if they are not already
immune.
 Eating well, avoiding alcohol, and controlling
diabetes both before and during pregnancy may
be helpful.
TRUNCUS ARTERIOSUS
 Rare type of congenital heart disease in which a
single blood vessel (truncus arteriosus) comes
out of the right and left ventricles, instead of the
normal two (pulmonary artery and aorta)
 There are different types of truncus arteriosus,
depending on the anatomy of the single vessel.
Types
 Type I: truncus -> one pulmonary artery -> two
lateral pulmonary arteries
  Type II: truncus -> two posterior/posterolateral  Widening of the finger tips (clubbing)
pulmonary arteries
Clinical Manifestations
 Type III: truncus -> two lateral pulmonary arteries
 Cyanosis presents at birth

 The "Type IV" proposed in 1949 is no longer  Heart failure may occur within weeks
considered a form of PTA by most modern
sources  Systolic ejection murmur is heard at the left
sternal border

 Widened pulse pressure

Causes
 Bounding arterial pulses
 Occurs spontaneously
 Loud second heart sound
 Genetic disorders and teratogens
 Biventricular hypertrophy
 50% associated with chromosome 22q11
 Cardiomegaly
Results
 Increased pulmonary vascularity
 the blue (without oxygen) and red (oxygen-rich)
blood mix  Hypocalcemia (if associated with DiGeorge
syndrome)
 Some of this mixed blood goes to the lungs, some
goes to the coronary arteries, and the rest goes to Anatomical Changes
the body. Usually, too much blood is sent to the
lungs.  single artery arising from the two ventricles which

 IF LEFT UNTREATED… NORMAL CIRCULATION TRUNCUS ARTERIOSUS

- pulmonary artery - a single artery comes out
› Too much blood circulation in the lungs comes out of the right of the ventricles
may cause extra fluid to build up in and
ventricle and the aorta - There is usually also a
comes out of the left large hole between the two
around them, making it difficult to ventricle, which are ventricles (ventricular
breathe. separate from each other septal defect)
- Coronary arteries
› The blood vessels to the lungs become come out of the aorta just
permanently damaged. Over time, it above the valve at the
entrance of the aorta.
becomes very hard for the heart to force
gives rise to both the aortic and pulmonary
blood to them. This is called pulmonary
vessels
hypertension and it can be life-
threatening.
 abnormal truncal valve
Symptoms
 right sided aortic arch in about 30% of cases (not
shown)
 Bluish skin (cyanosis)

 large ventricular septal defect

 Delayed growth or growth failure

 pulmonary hypertension
 Fatigue

 complete mixing occurring at level of the great

 Lethargy
vessel
 Poor feeding
Exams and Tests
 Rapid breathing (tachypnea)
 A murmur is usually heard when listening to the
heart with a stethoscope.
 Shortness of breath (dyspnea)
  Tests include:
› ECG
› Echocardiogram
› Heart catheterization (only needed in rare
cases to help with the diagnosis or in
planning a treatment strategy)
› MRI of the heart
› X-ray of the chest
Treatment
 SURGERY
A. Banding the pulmonary arteries coming off the
truncus to limit the amount of blood that can flow through
them. (not used anymore)
B. Complete repair (preferred option)
Possible Complications
 Heart failure
 High blood pressure in the lungs (pulmonary
hypertension) with pulmonary obstructive lung
disease
OBSTRUCTIONS
COARCTATION OF THE AORTA
What is it?
• It is a congenital condition whereby the aorta
narrows in the area where the ductus arteriosus
inserts.
• The defect can affect the body's blood circulation
because the left side of the heart has to work
harder to pump blood through the narrowed aorta.
• A coarctation can occur anywhere in the aorta, but
it is most often found just beyond the point where
the arteries that carry the blood to the upper body
and head branch off from the aorta.
• (CoA) is a relatively common defect that accounts
for 5-8% of all congenital heart defects.
• The diagnosis of coarctation of the aorta may be
missed unless an index of suspicion is
maintained.
• Diagnosis is often delayed until the patient
develops congestive heart failure (CHF) which is
common in infants, or hypertension, which is
common in older children.
Causes
• It is a congenital defect.
• Guys are almost twice as likely to have COA than
girls.
• In many people, the defect shows up with other
birth defects or conditions, such as a ventricular
septal defect
• COA is also fairly common in girls born
with Turner syndrome
Pathophysiology
• Coarctation of the aorta imposes significant
afterload on the left ventricle (LV) à increased
wall stress and compensatory ventricular
hypertrophy.
• The afterload may be imposed acutely, as occurs
following closure of the ductus arteriosus in
neonates with severe coarctation.
• Due to rapid constriction of the ductus
arteriosusà These infants may rapidly develop
CHF and shockà sudden severe aortic
obstruction
• As the ductus (aortic end) constrictsà the left
ventricular afterload rapidly increases, with a
resultant increase in left ventricular pressures
(systolic and diastolic)à elevation of the left atrial
pressureà which may open the foramen ovaleà
causing left-to-right shunt and dilatation of the
right atrium and right ventricle.
Signs and Symptoms
• Often the first sign that someone has COA is an
abnormal blood pressure test, higher blood
pressure in the arms than in the legs.
• The doctor may also hear a heart murmur or
notice that the pulses felt in the groin area or on
the feet are weak or even absent.
• Teens and adults who have COA often do not
have any symptoms or have only mild signs:
 cold legs and feet
 shortness of breath, especially
when exercising
  chest pain
Diagnosis and Treatment
• Teen: pediatric cardiologist
• Echocardiogram- a test that uses sound waves to
create a picture of the heart and its circulation
• Chest X-ray, a magnetic resonance imaging (MRI)
test or a computerized tomography (CT) scan to
look for a narrowing of the aorta.
• The longer a COA is left untreated, the more likely
it is that the person will have high blood pressure
even after the COA is fixed. If it's left untreated
indefinitely, the defect can be fatal in many people
by the age of 40.
• Surgery can effectively repair the narrowing of the
aorta, usually by removing the narrow section and
reconnecting the two good ends of the aorta.
• Balloon dilation or balloon angioplasty
Frequency
• In the United States: occurs in 6-8% of patients
with congenital heart disease.
• May be found more frequently in infants who
present with symptoms prior to
• The prevalence of coarctation of the aorta
appears to be lower (<2%) in Asian countries than
in European and North American countries.age
one year.
PULMONARY VALVE STENOSIS
What is it?
• A condition in which the flow of blood from the
heart (right ventricle, or lower chamber) is blocked
at the valve that separates the heart from the
pulmonary artery (pulmonic valve)
• Pulmonary valve stenosis ranges from mild and
without symptoms to severe and debilitating.
• Subvalvular — occurs below the valve
• Supravalvular — occurs above the valve
Causes
• It is caused by a problem that occurs when the
unborn baby (fetus) is developing. The cause is
unknown, but genetics may play a role.
• It occurs when the pulmonary valve doesn't grow
properly during fetal development
• Carcinoid syndrome- results from the release of a
chemical, serotonin, from growths called carcinoid
tumors located in the digestive system.
Symptoms: flushing of the skin and diarrhea
• Rheumatic fever- This is a complication of an
infection caused by streptococcus bacteria, such
as strep throat or scarlet fever. Rheumatic fever
may injure the heart valves.
Pathophysiology
• PVS can be due to isolated valvular (90%),
subvalvular, or peripheral (supravalvular)
obstruction, or it may be found in association with
more complicated congenital heart disorders.
I. Valvular pulmonic stenosis
• Isolated valvular PS comprises approximately
10% of all congenital heart disease
• Typically, the valve commisures are partially fused
and the 3 leaflets are thin and pliantà conical or
dome-shaped structure with a narrowed central
orificeà Poststenotic pulmonary artery dilatation
may occur owing to "jet-effect" hemodynamics.
• With severe valvular PS: subvalvular right
ventricular hypertrophyà infundibular narrowing
and contribute to the right ventricular outflow
obstructionà this often regresses after correction
of valvular stenosis.
• With severe PS and decreased right ventricular
chamber complianceà cyanosis can occur from
right-to-left shunting (if a concomitant patent
foramen ovale, atrial septal defect, or ventricular
septal defect is present)
II. Subvalvular pulmonic stenosis
• Subvalvular PS occurs as a narrowing of the
infundibular or subinfundibular region, often with a
normal pulmonic valve.
• This condition is present in individuals with
tetralogy of Fallot and can also be associated with
a ventricular septal defect (VSD).
• Double-chambered right ventricle is a rare
condition associated with fibromuscular narrowing
of the right ventricular outflow tract with right
 ventricular outflow obstruction at the subvalvular Tests and Diagnosis
level.
• Electrocardiogram- records the electrical activity in
III. Peripheral pulmonary stenosis your heart each time it contracts

• Peripheral pulmonary stenosis (PPS) can cause • Echocardiography- use high-pitched sound waves
obstruction at the level of the main pulmonary
to produce an image of the heart.
artery, at its bifurcation, or at the more distal
branches. • Other imaging tests. Magnetic resonance imaging
and CT scans are sometimes used
• PPS may occur at a single level, but multiple sites
of obstruction are more common.
• Cardiac catheterization

• PPS may be associated with other congenital Treatment

heart anomalies such as valvular PS, atrial septal
defect (ASD), VSD, or patent ductus arteriosus • Balloon valvuloplasty- uses cardiac catheterization
(PDA); 20% of the patients with tetralogy of Fallot to treat pulmonary valve stenosis
have associated PPS.
• Open-heart surgery- Balloon valvuloplasty can't be
• Functional or physiologic PPS is a common cause
used for cases of pulmonary stenosis that occur
of a systolic murmur in infants.
above the pulmonary valve (supravalvular) or
below the valve (subvalvular). Open-heart surgery
• It occurs in both premature and full-term infants;
is required for these types of stenoses and
with time, the pulmonary artery grows, and the
occasionally for valvular stenosis. During the
murmur usually disappears within a few months.
surgery, your doctor repairs the pulmonary artery
or the valve to allow blood to pass through more
• PPS is associated with various inherited and
easily. In certain cases, your doctor may replace
acquired conditions including rubella and the
the pulmonary valve with an artificial valve.
Alagille, cutaneous laxa, Noonan, Ehlers-Danlos,
and Williams syndromes.
• Preventive drugs
Signs and symptoms
Frequency
• Jugular venous distention
• PS is a common form of congenital heart disease
that occasionally is diagnosed for the first time in
• cyanosis (usually visible in the nailbeds)
adulthood.
• right ventricular hypertrophy
• Isolated valvular PS comprises approximately
• lowered oxygenation of the blood. 10% of all congenital heart disease.

• Heart murmur (an abnormal whooshing sound AORTIC VALVE STENOSIS

heard using a stethoscope, caused by turbulent
What is it?
blood flow)
• Abnormal narrowing of the aortic valve opening
• Shortness of breath, especially during exertion
• This narrowing prevents the valve from opening
• Chest pain
fully, which obstructs blood flow from your heart
• Loss of consciousness (fainting) into your aorta and onward to the rest of your
body.
• Fatigue
• When the aortic valve is obstructed, your heart
• When the stenosis is mild, it can go unnoticed for needs to work harder to pump blood to your body
many years
Causes
• If stenosis is severe, you may see sudden fainting
or dizziness if exercised too much, you may also  Congenital heart defect
experience an enlarged liver (hepatomegaly) and
swelling in the legs (edema).  Calcium buildup on the valve
  Rheumatic fever › Depending on the amount of narrowing,
an infant or child with aortic valve stenosis
Pathophysiology may have no symptoms, may tire easily or
may have chest pain with vigorous
• When the aortic valve becomes stenoticà physical activity.
resistance to systolic ejection occurs and a
systolic pressure gradient develops between the Tests and Diagnosis
left ventricle and the aorta.
• Diagnostic tests
• Stenotic aortic valves have a decreased
apertureà leads to a progressive increase in left  Electrocardiogram (ECG)
ventricular systolic pressureà leads to pressure
overload in the left ventricleà causes an increase  Chest X-ray
in ventricular wall thickness.
 Echocardiogram
• At this stage, the chamber is not dilated and
ventricular function is preserved, although  Cardiac catheterization
diastolic compliance may be affected.
Treatment
• Eventually, however, the left ventricle dilates.
• Nonsurgical techniques Therapies to repair or
• This, coupled with a decrease in compliance, is
replace the aortic valve without surgery include:
associated with an increase in left ventricular end-
diastolic pressure, which is increased further by a  Balloon valvuloplasty (valvotomy)
rise in atrial systolic pressure.
 Percutaneous aortic valve replacement
• A sustained pressure overload eventuallyà
myocardial decompensation. • Aortic valve surgery

• The contractility of the myocardium diminishesà  Aortic valve replacement

leads to a decrease in cardiac output.
 Valvuloplasty
• The elevated left ventricular end-diastolic
pressureà causes a corresponding increase in
pulmonary capillary arterial pressures and a
decrease in ejection fraction and cardiac outputà
congestive heart failure (CHF) develops.

Symptoms

• Chest pain (angina) or tightness

• Feeling faint or fainting with exertion

• Shortness of breath, especially with exertion

• Fatigue, especially during times of increased

activity

• Heart palpitations — sensations of a rapid,

fluttering heartbeat

• Heart murmur

› The heart-weakening effects of aortic

valve stenosis may lead to heart failure.
Heart failure symptoms include fatigue,
shortness of breath, and swollen ankles
and feet.