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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
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
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
 Main known causes consist of sporadic genetic
› Some mild forms may not become abnormalities:
evident until adulthood (e.g., ASD)
› Gene mutations
 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
 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
› 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
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

 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):

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
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
o Associated with anomalous
pulmonary venous return to the › But, not helpful in distinguishing the
right atrium various types of ASD


› 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

› Transthoracic echocardiography à can › Invasive test wherein a small tube
only give a clue as to the presence of a “catheter” is inserted into a blood vessel
sinus venosus ASD and passes the tube towards the heart

› Doppler Techinque › Used to deliver and implant devices to

close secundum ASDs without the need
o Approximates the elevation of for open heart surgery
pulmonary artery pressure
› Measures important pressures in the
Progression of Atrial Septal Defect heart and lungs

 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. Definition

› Increased flow to the pulmonary  Ventricular septal defect is a hole in the wall
circulation eventually leads to pulmonary between the right and left ventricles of the heart.
hypertension, usually by the 4th decade This abnormality usually develops before birth and
is found most often in infants.
› In severe cases the shunt can eventually
reverse so that blood bypasses the lungs Normal blood flow
- this is termed Eisenmenger's syndrome
 Normally, unoxygenated blood from the body
and is a poor prognostic factor.
returns to the right half of the heart, that is the
Treatment 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
 For Secundum ASDà by direct suture or patch
the left half of the heart, that is the left atrium, then
closure and device closure by cardiac
the left ventricle, where it is pumped out to provide
catheterization** techniques
oxygen to all the tissues of the body.
› It is important that a rim of septal tissue
Blood flow during ventricular septal defect
be present around the entire
circumference of the defect to stabilize
 A ventricular septal defect can allow newly
the device.
oxygenated blood to flow from the left
ventricle, where the pressures are higher, to the
› Long term outcome remains unknown
right ventricle, where the pressures are lower, and
mix with unoxygenated blood. The mixed blood in
 For Primum ASD à by patch closure and in most the right ventricle flows back or recirculates into
cases, the cleft in the mitral valve leaflet is
the lungs. This means that the right and left
ventricles are working harder, pumping a greater
volume of blood than they normally would.
 For Sinus Venosus ASD à the anomalous
drainage of the right upper pulmonary vein is  Eventually, the left ventricle can work so hard that
corrected, and the ASD is closed it starts to fail. It can no longer pump blood as well
as it did. Blood returning to the heart from the
 The usual age for closure of an uncomplicated blood vessels backs up into the lungs, causing
ASD is 2 to 4 years. pulmonary congestion, and further backup into the
body, causing weight gain and fluid retention.
› In rare cases of infants with ASD and
Overall, this is called congestive heart failure.
heart failure, surgery should be
performed during infancy.  If the VSD is large and surgically uncorrected,
pressure can build excessively in the lungs, called
 Endocarditis prophylaxis is recommended for all pulmonary hypertension. The higher the lung or
types of ASDs except secundum pulmonary pressure, the greater the chance of
blood flowing from the right ventricle to the left
**Cardiac catheterization
ventricle, backwards, causing unoxygenated blood
to be pumped to the body and cyanosis (blue  Pallor
 Very fast heartbeats
 The ventricular septal defect may not be heard
with a stethoscope until several days after birth.  Decreased feeding
This is because a newborn's circulatory system
changes during the first week with drop in the lung  Poor weight gain
or pulmonary pressure, creating the greater
pressure differential between the 2 ventricles, thus Typical symptoms of pulmonary hypertension:
greater left-to-right shunt and audible murmur.
 Fainting
 Ventricular septal defects are the most common
congenital heart defects in infants.  Shortness of breath

 Chest Pain
 The condition occurs in about 25% of all infants
born with a heart defect.
 Cyanosis

 These defects are more common in premature 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
 Malformation of the heart that occurs while the
bone border. It is related to the oxygenated blood
infant is developing in the womb.
“swishing” through the hole or VSD into the right
 There may be just one hole or several holes in the
septum.  The presence of a hole in the heart can be
confirmed by echocardiogram.
 The septum itself is divided into multiple areas,
including the membranous part, the muscular part,  It can quantitate the size of the left-to-right shunt
and other areas called the inlet and outlet. Any or by enlargement of the left ventricle, pressure in
all of these parts can have a hole. the lungs, and actually estimate the degree of
shunting by an empirical formula.
 The location of the hole depends on where the
malformation takes place during fetal  Chest x-ray is useful to see if the overall heart size
development. is enlarged, plus evidence of fluid in the lungs or
pulmonary congestion.
 The most common type of ventricular septal
defect is the membranous variant. In this type, the  An electrocardiogram is helpful in checking to see
hole is located below the aortic valve, which if the left ventricle is the dominant working muscle,
controls flow of blood from the left ventricle into and therefore operate sooner.
the main artery of the body, the aorta.
 Pressures are measured inside the heart,
Symptoms especially if any concern was previously raised
over the degree of pulmonary hypertension and
 Small holes in the ventricular septum usually therefore operability. If the lung pressures are very
produce no symptoms but are often recognized by high and won’t drop with oxygen and additional
the child's health care provider when a loud heart vasodilating drugs, the patient may not be
murmur along the left side of the lower sternum is operable.
heard. Large holes typically produce symptoms 1-
6 months after an infant’s birth.  If additional abnormalities are possible, a dye
study may be performed to visualize the anatomy
The left ventricle begins to fail, producing the following of inside the heart.
 Fast breathing
 Small defects will close spontaneously in 20-25%
 Sweating
 Larger ventricular septal defects do not close as  If the ductus arteriosus does not close, there will
the child grows. If it does not close, closing the be abnormal blood circulation between the heart
heart surgically is necessary. and lungs.

 Surgical closure is typically done before the child  PDA is more common in premature infants and
begins preschool. those with neonatal respiratory distress syndrome.
Infants with genetic disorders, such as Down
 Surgery is indicated if medications do not work in syndrome, and whose mothers had rubella during
the first few months or years of life, especially if pregnancy are at higher risk for PDA.
the child is not growing adequately even with
 PDA is common in babies with congenital heart
problems, such as hypoplastic left heart
 Surgery is more urgent if evidence of pulmonary syndrome, transposition of the great vessels, and
hypertension has developed. pulmonary stenosis

Other conditions that may result from VSD: Symptoms

 Aortic regurgitation: Blood flowing backward from  Bounding pulse

the aorta into the left ventricle.
 Fast breathing
 Endocarditis: An infection of the heart valves due
 Poor feeding habits
to abnormal blood flow. Because endocarditis is
always possible, medical professionals
 Shortness of breath
recommend that children with ventricular septal
defects routinely receive antibiotics before
 Sweating while feeding
undergoing dental procedures or surgery.
 Tiring very easily
 Pulmonary hypertension: An increase in pressure
in the right side of the heart and in the arteries of  Poor growth
the lungs. This is caused by the shunting of blood
from the left to the right ventricle, which increases Treatment
the pressure in the right ventricle.
 Sometimes, a PDA may close on its own.
PATENT DUCTUS ARTERIOSUS 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
 Patent ductus arteriosus (PDA) is a condition in
which a blood vessel called the ductus arteriosus
 A transcatheter device closure is a minimally
fails to close normally in an infant soon after birth.
invasive procedure that uses a thin, hollow tube.
The doctor passes a small metal coil or other
 The condition leads to abnormal blood flow
blocking device through the catheter to the site of
between the aorta and pulmonary artery, two
the PDA. This blocks blood flow through the
major blood vessels that carry blood from the
vessel. Such endovascular coils have been used
successfully as an alternative to surgery.
Blood flow
 Surgery may be needed if the catheter procedure
 Before birth, the ductus arteriosus allows blood to does not work or cannot be used. Surgery
bypass the baby's lungs by connecting the involves making a small cut between the ribs to
pulmonary arteries (which supply blood to the repair the PDA.
lungs) with the aorta (which supplies blood to the
 If the patent ductus is not closed, the infant has a
risk of developing heart failure, pulmonary artery
 Soon after the infant is born and the lungs fill with hypertension, or infective endocarditis (an
air, this blood vessel is no longer needed. It will infection of the inner lining of the heart).
usually close within a couple of days.
 A right-to-left shunt is a cardiac shunt which heart and into the circulatory system of blood
allows, or is designed to cause, blood to flow from vessels
the right heart to the left heart.
 The blood leaving the heart has less oxygen than
 Used both for the abnormal state in humans and is needed by the organs and tissues of the body, a
for normal physiological shunts in reptiles. condition called hypoxemia.
Commonly found in turtles.
 Lack of oxygen causes cyanosis, a bluish
 Small physiological, or "normal", shunts are seen discoloration of the skin, lips, and membranes
due to the return of bronchial artery blood and inside the mouth and nose.
coronary blood through the Thebesian veins,
which is deoxygenated, to the left side of the  Accounts for 10-15% of all congenital (newborn)
heart. heart defects. Infants with this abnormality
develop signs of the condition very early in life.
A right to left shunt occurs when:
The 4 Abnormalities that constitute the Tetralogy are:
1. There is an opening or passage between the atria,
ventricles, and/or great vessels. 1. Right ventricular hypertrophy: Narrowing or
blockage of the pulmonary valve and/or muscle
2. Right heart pressure is higher than left heart under the pulmonary valve coming out of the right
pressure and/or the shunt has a one-way valvular ventricle. This restriction to blood outflow causes
opening. an increase in right ventricular work and pressure,
leading to right ventricular thickening or

• A right to left shunt usually causes hypoxemia and 2. Ventricular septal defect (VSD): This is a hole in
is usually characterized by frequent chest the heart wall (septum) that separates the 2
infections. ventricles. The hole is usually large and allows
oxygen-poor blood in the right ventricle to pass
• The most common cause of right-to-left shunt is through, mixing with oxygen-rich blood in the left
the Tetralogy of Fallot, a congenital cardiac ventricle.
anomaly characterized by four co-existing heart
defects. › This poorly oxygenated blood is then
pumped out of the left ventricle to the
The Four Defects Include: rest of the body. The body gets some
oxygen, but not all that it needs. This lack
1. Pulmonary stenosis (narrowing of the pulmonary of oxygen in the blood causes cyanosis.
valve and outflow tract, obstructing blood flow
from the right ventricle to the pulmonary artery) 3. Abnormal position of the aorta: The aorta, the
main artery carrying blood out of the heart and
2. Overriding aorta (aortic valve is enlarged and into the circulatory system, exits the heart from a
appears to arise from both the left and right position overriding the right and left ventricles. (In
ventricles instead of the left ventricle, as occurs in the normal heart, the aorta exits from the left
normal hearts) ventricle.) This is not of major importance in
3. Ventricular septal defect (an abnormal hole
between the ventricles) 4. Pulmonary valve stenosis (PS): The major issue
with tetralogy of Fallot is the degree of pulmonary
4. Right ventricular hypertrophy (thickening of the
valve stenosis, since VSD is always present. If the
muscular walls of the right ventricle, this is a result
stenosis is mild, minimal cyanosis occurs, since
of the increased amount of work the heart has to
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
 The most common heart defect in children. The right-to-left through the VSD.
condition causes mixing of oxygen-poor blood with
the oxygen-rich blood being pumped out of the 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
 An error occurs as the fetal heart separates into
the chambers, valves, and other structures that
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
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 %
 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
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.
 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
the first year.
 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.
Low blood oxygen leads to cyanosis (a bluish-purple
color to the skin) and shortness of breath.

 Is the most common cyanotic congenital heart  TGA has a 60-70% male predominance.
lesion that presents in neonates.
 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:


› Alcoholism
à Blood that returns à The blood goes to
from the body goes the lungs, picks up › Diabetes
through the right side of oxygen, and then goes
the heart and pulmonary right back to the lungs › Poor nutrition during pregnancy (prenatal
artery to the lungs to get without ever going to the
oxygen. body. Blood from the body
à The blood then returns to the heart and
goes back to the body
› Rubella or other viral illness during mild cyanosis (particularly when crying)
pregnancy is often noted.

Symptoms  Signs of congestive heart failure

(tachypnea, tachycardia, diaphoresis,
 Blueness of the skin (within hours of birth, and failure to gain weight) may become
progressing rapidly to metabolic acidosis evident over the first 3-6 weeks as
secondary to poor tissue oxygenation) pulmonary blood flow increases.

 Clubbing of the fingers or toes › Transposition of the great arteries with

ventricular septal defect and left ventricular
 Poor feeding outflow tract obstruction

 Shortness of breath  Infants often present with

extreme cyanosis at birth, proportional to
 The 2nd heart sound (S2) is single and loud. the degree of left ventricular (pulmonary)
outflow tract obstruction.
 The clinical history may be
 Systemic and pulmonary circulations are similar to that of an infant with tetralogy
completely separated. of Fallot.

 After returning to the right heart àdesaturated › Transposition of the great arteries
systemic venous blood is pumped into the with ventricular septal defect and pulmonary
systemic circulation without being oxygenated in vascular obstructive disease
the lungs;
 Progressively advancing
 Oxygenated blood entering the left heart goes pulmonary vascular obstructive disease
back to the lungs rather than to the rest of the can prevent this rare subgroup of
body. This anomaly is not compatible with life patients from developing symptoms of
unless desaturated and oxygenated blood can mix congestive heart failure, despite a large
through openings at one or more levels (eg, atrial, ventricular septal defect.
ventricular, or great artery level).
 Most often, patients present
Clinical with progressive cyanosis, despite an
early successful palliative procedure.
A. History
B. Physical
 Infants with transposition of the great arteries
(TGA) are usually born at term, with cyanosis  Newborns with transposition of the great arteries
apparent within hours of birth. are usually well developed, without dysmorphic
features. Physical findings at presentation depend
 The clinical course and manifestations depend on on the presence of associated lesions.
the extent of intercirculatory mixing and the
presence of associated anatomic lesions. › Transposition of the great arteries with intact
ventricular septum
› Transposition of the great arteries with intact
ventricular septum:  Infants typically present with progressive
central (perioral and periorbital) cyanosis.
 Prominent and progressive
cyanosis within the first 24 hours of life is  Other than cyanosis, the physical
the usual finding in infants. examination is often unremarkable.

› Transposition of the great arteries with large › Transposition of the great arteries with large
ventricular septal defect ventricular septal defect

 Infants may not initially manifest  Cyanosis may be mild initially, although it
symptoms of heart disease, although is usually more apparent with stress or
 Upon presentation, infants often have an › Chest x-ray
increased right ventricular impulse, a
prominent grade 3-4/6 holosystolic › ECG
murmur, third heart sound, mid-diastolic
rumble, and a gallop rhythm. › Echocardiogram (if done before birth, it is
called a fetal echocardiogram)
 Hepatomegaly may be present.
› Pulse oximetry (to check blood oxygen
› Transposition of the great arteries with level)
ventricular septal defect and left ventricular
outflow tract obstruction Treatment

 Cyanosis is prominent at birth, and the A. Prostaglandin through IV - helps keep the
findings are similar to those of infants ductus arteriosus open, allowing some mixing of
with tetralogy of Fallot. the two blood circulations.

 A single, or narrowly split, diminished B. Cardiac catheterization (balloon atrial

second heart sound and a grade 2-3/6 septostomy)- creates a large hole in the atrial
systolic ejection murmur may be present. septum to allow blood to mix.

 Hepatomegaly is rare. C. Arterial switch procedure - used to permanently

correct the problem within the baby's first week of
› Transposition of the great arteries with life. This surgery switches the great arteries back
ventricular septal defect and pulmonary to the normal position and keeps the coronary
vascular obstructive disease arteries attached to the aorta.

 Progressive pulmonary vascular Possible Complications

obstructive disease is not always evident
from physical examination findings.  Arrhythmias

 Cyanosis is usually present and can  Coronary artery problems

progress despite palliative therapy in the
newborn period.  Heart valve problems

 No murmur (despite the ventricular septal Prevention

defect) or early short systolic ejection
sounds are heard.  Women who plan to become pregnant should be
immunized against rubella if they are not already
 The second heart sound is often single, immune.
with increased intensity.
 Eating well, avoiding alcohol, and controlling
 In later childhood or adolescence, a high- diabetes both before and during pregnancy may
pitched, blowing, early decrescendo be helpful.
diastolic murmur of pulmonary
insufficiency and a blowing apical TRUNCUS ARTERIOSUS
murmur of mitral insufficiency are
evident.  Rare type of congenital heart disease in which a
single blood vessel (truncus arteriosus) comes
Exams and Tests out of the right and left ventricles, instead of the
normal two (pulmonary artery and aorta)
 The health care provider may detect a heart
 There are different types of truncus arteriosus,
murmur while listening to the chest with a
depending on the anatomy of the single vessel.
stethoscope. The baby's mouth and skin will be a
blue color.
 Tests often include the following:
 Type I: truncus -> one pulmonary artery -> two
› Cardiac catheterization 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

 Bounding arterial pulses
 Occurs spontaneously
 Loud second heart sound
 Genetic disorders and teratogens
 Biventricular hypertrophy
 50% associated with chromosome 22q11
 Cardiomegaly
 Increased pulmonary vascularity
 the blue (without oxygen) and red (oxygen-rich)
blood mix  Hypocalcemia (if associated with DiGeorge
 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


- 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
hypertension and it can be life-
 abnormal truncal valve
 right sided aortic arch in about 30% of cases (not
 Bluish skin (cyanosis)

 large ventricular septal defect

 Delayed growth or growth failure

 pulmonary hypertension
 Fatigue

 complete mixing occurring at level of the great

 Lethargy
 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: common in infants, or hypertension, which is
common in older children.
› Echocardiogram
• It is a congenital defect.
› Heart catheterization (only needed in rare
cases to help with the diagnosis or in • Guys are almost twice as likely to have COA than
planning a treatment strategy) girls.

› MRI of the heart • In many people, the defect shows up with other
birth defects or conditions, such as a ventricular
› X-ray of the chest septal defect

Treatment • COA is also fairly common in girls born

with Turner syndrome
A. Banding the pulmonary arteries coming off the
truncus to limit the amount of blood that can flow through • Coarctation of the aorta imposes significant
them. (not used anymore) afterload on the left ventricle (LV) à increased
wall stress and compensatory ventricular
B. Complete repair (preferred option) hypertrophy.

Possible Complications • The afterload may be imposed acutely, as occurs

following closure of the ductus arteriosus in
 Heart failure neonates with severe coarctation.

 High blood pressure in the lungs (pulmonary • Due to rapid constriction of the ductus
hypertension) with pulmonary obstructive lung
arteriosusà These infants may rapidly develop
CHF and shockà sudden severe aortic
OBSTRUCTIONS obstruction
• As the ductus (aortic end) constrictsà the left
What is it? ventricular afterload rapidly increases, with a
resultant increase in left ventricular pressures
• It is a congenital condition whereby the aorta (systolic and diastolic)à elevation of the left atrial
narrows in the area where the ductus arteriosus pressureà which may open the foramen ovaleà
inserts. causing left-to-right shunt and dilatation of the
right atrium and right ventricle.
• The defect can affect the body's blood circulation
because the left side of the heart has to work Signs and Symptoms
harder to pump blood through the narrowed aorta.
• Often the first sign that someone has COA is an
• A coarctation can occur anywhere in the aorta, but abnormal blood pressure test, higher blood
it is most often found just beyond the point where pressure in the arms than in the legs.
the arteries that carry the blood to the upper body
and head branch off from the aorta. • The doctor may also hear a heart murmur or
notice that the pulses felt in the groin area or on
• (CoA) is a relatively common defect that accounts the feet are weak or even absent.
for 5-8% of all congenital heart defects.
• Teens and adults who have COA often do not
• The diagnosis of coarctation of the aorta may be have any symptoms or have only mild signs:
missed unless an index of suspicion is
maintained.  cold legs and feet

• Diagnosis is often delayed until the patient  shortness of breath, especially

develops congestive heart failure (CHF) which is when exercising
 chest pain • It occurs when the pulmonary valve doesn't grow
properly during fetal development
Diagnosis and Treatment
• Carcinoid syndrome- results from the release of a
• Teen: pediatric cardiologist chemical, serotonin, from growths called carcinoid
tumors located in the digestive system.
• Echocardiogram- a test that uses sound waves to
create a picture of the heart and its circulation Symptoms: flushing of the skin and diarrhea

• Chest X-ray, a magnetic resonance imaging (MRI) • Rheumatic fever- This is a complication of an
test or a computerized tomography (CT) scan to infection caused by streptococcus bacteria, such
look for a narrowing of the aorta. as strep throat or scarlet fever. Rheumatic fever
may injure the heart valves.
• The longer a COA is left untreated, the more likely
it is that the person will have high blood pressure Pathophysiology
even after the COA is fixed. If it's left untreated
indefinitely, the defect can be fatal in many people • PVS can be due to isolated valvular (90%),
by the age of 40. subvalvular, or peripheral (supravalvular)
obstruction, or it may be found in association with
• Surgery can effectively repair the narrowing of the more complicated congenital heart disorders.
aorta, usually by removing the narrow section and
reconnecting the two good ends of the aorta.
I. Valvular pulmonic stenosis
• Balloon dilation or balloon angioplasty
• Isolated valvular PS comprises approximately
10% of all congenital heart disease

• In the United States: occurs in 6-8% of patients • Typically, the valve commisures are partially fused
with congenital heart disease. and the 3 leaflets are thin and pliantà conical or
dome-shaped structure with a narrowed central
• May be found more frequently in infants who orificeà Poststenotic pulmonary artery dilatation
present with symptoms prior to may occur owing to "jet-effect" hemodynamics.

• The prevalence of coarctation of the aorta • With severe valvular PS: subvalvular right
appears to be lower (<2%) in Asian countries than ventricular hypertrophyà infundibular narrowing
in European and North American countries.age and contribute to the right ventricular outflow
one year. obstructionà this often regresses after correction
of valvular stenosis.

What is it? • With severe PS and decreased right ventricular

chamber complianceà cyanosis can occur from
• A condition in which the flow of blood from the right-to-left shunting (if a concomitant patent
heart (right ventricle, or lower chamber) is blocked foramen ovale, atrial septal defect, or ventricular
at the valve that separates the heart from the septal defect is present)
pulmonary artery (pulmonic valve)
II. Subvalvular pulmonic stenosis
• Pulmonary valve stenosis ranges from mild and
without symptoms to severe and debilitating. • Subvalvular PS occurs as a narrowing of the
infundibular or subinfundibular region, often with a
• Subvalvular — occurs below the valve normal pulmonic valve.

• Supravalvular — occurs above the valve • This condition is present in individuals with
tetralogy of Fallot and can also be associated with
Causes a ventricular septal defect (VSD).

• It is caused by a problem that occurs when the • Double-chambered right ventricle is a rare
unborn baby (fetus) is developing. The cause is condition associated with fibromuscular narrowing
unknown, but genetics may play a role. of the right ventricular outflow tract with right
ventricular outflow obstruction at the subvalvular Tests and Diagnosis
• 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
• 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)
• 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
• 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
• 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.
• 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.


• Chest pain (angina) or tightness

• Feeling faint or fainting with exertion

• Shortness of breath, especially with exertion

• Fatigue, especially during times of increased


• 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.