PROPAEDEUTIC PEDIATRICS

Topic 12.
Semiotics of cardiovascular disorders in children.
Semiotics of congenital heart diseases in children.

Venue - Сenter for Medical Simulation 'TESIMED'

 The text highlighted with blue filling is intended for students’ self-study.
Some 35,000 children are born per year in the United States only with congenital
heart disease. This number does not include those children who develop acquired heart
disease. Over the last fifty years significant advances have been made in the diagnosis,
treatment, and evaluation of children with heart disease.
Pathophysiology in pediatric heart disease is widely variable and challenging to
even the most experienced clinician. A sound knowledge of normal and abnormal
physiology is critically important to the understanding of pathology, therapeutic
intervention, and evaluation of congenital heart defects.
NORMAL HEMODYNAMICS
The fully developed heart is a four chambered structure that lies between the lungs
in the mediastinum. Heart size corresponds with the size of the child's fist; this
correlation continues into adulthood. Normal position is distinguished by the ventricular
apex, which is directed downward and toward the left.
 An understanding of transitional and normal hemodynamics is critical for the
nurse caring for the child in shock or with heart disease. Abnormal hemodynamics are
usually the basis for clinical pathology.
Fetal and Postnatal Circulation
Fetal circulation is distinctly different from postnatal circulation. In some cases
persistence of fetal circulation can occur after birth.
Fetal circulation is different from neonatal circulation due to structural
differences that include the (1) placenta, (2) umbilical arteries and veins, (3) ductus
venosus, (4) foramen ovale, and (5) ductus arteriosus. The placenta provides oxygen
and nutrients for the fetus, and removes carbon dioxide and other waste products. The
umbilical cord connects the fetus to the placenta, and contains two arteries and one vein.
Blood from the placenta flows through the umbilical vein to the abdominal wall of the
fetus. The umbilical vein then divides into two branches. A small portion of the blood
flows through one branch and to the liver, sinusoids, and hepatic vein before entering
the inferior vena cava. Sixty percent of the blood flows through the ductus venosus (a
shunt in the fetus that carries oxygenated blood from the umbilical veins) and directly
enters the inferior vena cava. The blood then enters the right atrium. Most blood will
bypass the fetal lungs via the foramen ovale (an opening between the right and left atria)
and enter the left atrium. From the left atrium, the blood enters the left ventricle and is
pumped into the aorta to the hypogastric arteries.
The small amount of blood that does pass from the right atrium to the right
ventricle will pass into the pulmonary artery. From the pulmonary artery, a small amount
will go to the nonfunctional lungs into the pulmonary vein, left atrium, left ventricle,
and to the aorta. The remainder of the blood will pass through the ductus arteriosus
(channel between the main pulmonary artery and the aorta) to the aorta. The hypogastric
arteries lead to the iliac arteries, which give rise to the umbilical arteries, which then
return the blood to the placenta (Fig.2, 3).
The transition to extrauterine life begins with the loss of the umbilical cord and
the initiation of respirations. With the initiation of respirations, the PaO2 levels are
increased, and several changes occur. Decreased pulmonary vascular resistance results
in increased pulmonary blood flow, causing an increase in the pressure of the left atrium,
a decrease in pressure of the right atrium, and closure of the foramen ovale. The foramen
ovale closes shortly after birth and then undergoes fusion of the tissue margins during
early childhood (obliteration). Increased PaO2 levels also lead to an increase in systemic
vascular resistance, a decrease in systemic venous return, cessation of umbilical venous
return, and closure of the ductus venosus.
 Figure 2. Fetal circulation

Figure 3. Transition from fetal to neonatal circulation.

 The closure of the ductus venosus occurs gradually over a period of about 2
weeks. Since systemic resistance is greater than pulmonary resistance, a left-to-right
shunt occurs within the heart, resulting in constriction of the ductus arteriosus (usually
within 24 hours of birth) and gradual obliteration up to 3 months of child’s life.
The average period of transition is 6-12 hours, but may be shorter or longer
depending on the neonate's ability to adjust to the stresses of labor, delivery, and a new
environment.

CONGENITAL HEART DEFECTS

Congenital heart defects (CHD) occur in approximately 8 in 1,000 live births.
There are a minimum of 35 types of recognized defects ranging from mild, easily
corrected defects such as a patent ductus arteriosus to more serious and complex
anomalies such as hypoplastic left heart syndrome. It should be pointed out that although
these defects will be presented separately, it is not uncommon for the infant to present
with a combination of defects.
Some congenital heart defects may have a genetic link, either occurring due to a
defect in a gene, a chromosome abnormality, or environmental exposure, causing heart
problems to occur more often in certain families. Some may occur sporadically due to
the influence of teratogenic factors on the mother’s organism during the first trimester
of pregnancy.
Congenital heart defects can be divided into defects that result in:

 increased pulmonary blood flow,

 decreased pulmonary blood flow,
 and those with left sided obstruction.

Defects with Increased Pulmonary Blood Flow

Defects that increase pulmonary blood flow are caused by a shunting of the blood
from the left side of the heart to the right side through an abnormal connection (left to
right shunt). The blood flows from the left to the right side because the pressures are
greater on the left side of the heart. The increased amount of blood in the right side leads
to increased pulmonary blood flow and development of pulmonary hypertension (PHT).
Infants with these defects if not corrected later exhibit the clinical manifestations of
congestive heart failure (CHF). Atrial septal defects, ventricular septal defects, patent
ductus arteriosus, atrioventricular septal defects, and truncus arteriosus are all in this
category.
ATRIAL SEPTAL DEFECT
An atrial septal defect is an opening in the atrial septum, or dividing wall between
the right and left atria. ASD is a congenital (present at birth) heart defect. As the fetus
is growing, something occurs to affect heart development during the first eight weeks
of pregnancy, resulting in an ASD.
Atrial septal defects occur in 6 percent to 8 percent of all children born with
congenital heart disease. For unknown reasons, girls have atrial septal defects twice as
often as boys.
Most atrial septal defects occur sporadically (by chance), with no clear reason for
their development.
What are the types of atrial septal defects?
There are four types of atrial septal defects:
 ostium secundum atrial septal defect. This is the most common atrial septal
defect, affecting 80 percent of people with atrial septal defects. It is caused when a part
of the atrial septum fails to close completely while the heart is developing. This causes
an opening to develop in the center of the wall separating the two atria.
 ostium primum atrial septal defect. This defect is part of the atrioventricular
canal defects, and is associated with a split (cleft) in one of the leaflets of the mitral
valve.
 sinus venosus atrial septal defect. This defect occurs at the superior vena
cava and right atrium junction, in the area where the pulmonary veins enter the heart.
As a result, the drainage of one or more of the pulmonary veins may be abnormal in that
the pulmonary veins enter the right atrium rather than the left atrium.
 coronary sinus atrial septal defect. This defect is located within the
coronary sinus, which is the structure in the right atrium where all the heart's own veins
drain into the right atrium. It is the rarest of all atrial septal defects.

Pathophysiology
 Because of the normal increased pressure on the left side of the heart, blood flows
from the left to the right across the ASD. This leads to increased volume on the right
side of the heart, with a subsequent increase in right atrial and ventricular size, as well
as an increase in pulmonary artery (PA) size.
An atrial septal defect allows oxygen-rich (red) blood to pass from the left atrium,
through the opening in the septum, and then mix with oxygen-poor (blue) blood in the
right atrium. When blood passes through the ASD from the left atrium to the right
atrium, a larger volume of blood than normal must be handled by the right side of the
heart. This extra blood passes through the pulmonary artery into the lungs, causing
higher amounts of blood flow than normal in the vessels in the lungs.
The lungs are able to cope with this blood flow for a long period of time. In some
patients, the extra blood flow eventually raises the blood pressure in the lungs, usually
after several decades. This then hardens the blood vessels in the lungs, causing them to
be diseased, resulting in irreversible changes in the lungs.
Clinical Manifestations
Many children have no symptoms and seem healthy. However, if the ASD is
large, permitting a large amount of blood to pass through to the right side of the heart,
the right atrium, right ventricle, and lungs will become overworked, and symptoms may
be noted.
The following are the most common symptoms of atrial septal defect. However,
each child may experience symptoms differently. Symptoms may include:
 child tires easily when playing
 fatigue
 sweating
 rapid breathing
 shortness of breath
 poor growth
 frequent respiratory infections
There is often a soft systolic murmur and more classically a widely split S2,
unaffected by respiratory pattern.
Diagnosis
Diagnosis is often made after a murmur is detected during a routine health care
examination. Chest X ray will usually demonstrate increased heart size. An
echocardiogram demonstrates the location and size of the defect. Cardiac cath is not
routinely indicated for diagnosis of an isolated ASD.
Diagnostic testing for congenital heart disease varies by the child's age, clinical
condition, and institutional preferences. Some tests that may be recommended include
the following:
  chest X-ray - a diagnostic test which uses invisible X-ray beams to produce
images of internal tissues, bones, and organs onto film. With an ASD, the heart may be
enlarged because the right atrium and ventricle have to handle larger amounts of blood
flow than normal. Also, there may be changes that take place in the lungs due to extra
blood flow that can be seen on an X-ray.
 electrocardiogram (ECG or EKG) - a test that records the electrical activity
of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart
muscle stress.
 echocardiogram (echo) - a procedure that evaluates the structure and
function of the heart by using sound waves recorded on an electronic sensor that produce
a moving picture of the heart and heart valves. An echo can show the pattern of blood
flow through the atrial septal opening, and determine how large the opening is, as well
as how much blood is passing through it.
 cardiac catheterization - a cardiac catheterization is an invasive procedure
that gives very detailed information about the structures inside the heart. Under sedation,
a small, thin, flexible tube (catheter) is inserted into a blood vessel in the groin, and
guided to the inside of the heart. Blood pressure and oxygen measurements are taken in
the four chambers of the heart, as well as the pulmonary artery and aorta. Contrast dye
is also injected to more clearly visualize the structures inside the heart. Although an
echocardiogram often provides enough diagnostic information, device closure of the
ASD can be performed at the time of the catheterization.
Treatment for atrial septal defect:
Specific treatment for ASD will be determined by the child's physician based on:
 child's age, overall health, and medical history
 extent of the disease
 child's tolerance for specific medications, procedures, or therapies
 expectations for the course of the disease
Secundum atrial septal defects may close spontaneously as a child grows.
Usually, an ASD will be repaired if it has not closed on its own by the time a child
starts school - to prevent lung problems that will develop from long-time exposure to
extra blood flow. The decision to close the ASD may also depend on the size of the
defect. Individuals who have their atrial septal defects repaired in childhood can prevent
problems later in life.
The main complications of an ASD repair are atrial arrhythmias or heart block
secondary to edema around or surgical interruption of the conduction system. This is
often temporary and normal conduction returns with time. For clients with a repaired
ASD long-term survival is comparable to normal individuals when matched for age and
sex. A small percentage can develop atrial arrhythmias following surgery so periodic
follow-up is warranted.
 VENTRICULAR SEPTAL DEFECT

A ventricular septal defect is an opening in the ventricular septum, or dividing

wall between the two lower chambers of the heart known as the right and left ventricles.
VSD is a congenital (present at birth) heart defect. As the fetus is growing, something
occurs to affect heart development during the first 8 weeks of pregnancy, resulting in a
VSD.
There are four basic types of VSD:
 perimembranous VSD - an opening in a particular area of the upper section
of the ventricular septum (an area called the membranous septum), near the valves. This
type of VSD is the most commonly operated upon since most perimembranous VSDs
do not spontaneously close.
 muscular VSD - an opening in the muscular portion of the lower section of
the ventricular septum. This is the most common type of VSD. A large number of these
muscular VSDs close spontaneously and do not require congenital heart surgery.
 atrioventricular canal type VSD - a VSD associated with atrioventricular
canal defect. The VSD is located underneath the tricuspid and mitral valves.
 conal septal VSD - the rarest of VSDs which occur in the ventricular
septum just below the pulmonary valve.
 Ventricular septal defects are the most commonly occurring type of congenital
heart defect, accounting for 25 percent of congenital heart disease cases.
What causes ventricular septal defect?
The heart is forming during the first 8 weeks of fetal development. It begins as a
hollow tube, then partitions within the tube develop that eventually become the septa
(or walls) dividing the right side of the heart from the left. Ventricular septal defects
occur when the partitioning process does not occur completely, leaving an opening in
the ventricular septum.
Pathophysiology
Because of normally increased pressures on the left side of the heart, blood flow
through a VSD is left to right. The blood that flows through the VSD will recirculate
through the pulmonary artery to the lungs. The increase in pulmonary blood flow leads
to left heart enlargement and pulmonary venous congestion. The degree of left to right
shunting depends on two major factors: the size of the defect and the child's pulmonary
resistance.
As pressure builds up in the lungs, the flow of blood from the left ventricle,
through the VSD, into the right ventricle, and on to the lungs will diminish. This helps
preserve the function of the lungs, but causes yet another problem. Blood flow within
the heart goes from areas where the pressure is high to areas where the pressure is low.
If a ventricular septal defect is not repaired, and lung disease begins to occur, pressure
in the right side of the heart will eventually exceed pressure in the left. In this instance,
it will be easier for oxygen-poor (blue) blood to flow from the right ventricle, through
the VSD, into the left ventricle, and on to the body. When this happens, the body does
not receive enough oxygen in the bloodstream to meet its needs.
Because blood is pumped at high pressure by the left ventricle through the VSD,
tissue damage may eventually occur in the right ventricle. Bacteria in the bloodstream
can easily infect this injured area, causing a serious illness known as bacterial
endocarditis.
Clinical Manifestations
The infant with a small VSD is likely to be asymptomatic while the infant with a
moderate to large defect will demonstrate signs of CHF. The infant with a moderate to
large VSD is usually tachypneic, diaphoretic, fatigues easily, and is underweight for
age. Feeding history will usually reveal an infant that tires before a feeding is completed.
VSDs are also seen in older children. If a VSD is detected in an older child for the first
time, it is because the defect is small and the child has had no symptoms.
Diagnosis
Diagnosis of a VSD is often suspected when a loud holosystolic murmur is heard.
The intensity of the murmur can reflect the size of the defect. The X-ray of a child with
a small VSD can be normal while the X-ray of a child with a moderate to large defect
will often show cardiomegaly with an increase in pulmonary blood flow.
Echocardiogram is indicated to determine the size and location of the defect. Cardiac
catheterization is rarely indicated.
Treatment for ventricular septal defect:
Small ventricular septal defects may close spontaneously as a child grows. A
larger VSD usually requires surgical repair. Regardless of the type, once a ventricular
septal defect is diagnosed, a child's cardiologist will evaluate a child periodically to see
whether it is closing on its own. A VSD will be repaired if it has not closed on its own
- to prevent lung problems that will develop from long-time exposure to extra blood
flow.
Treatment may include:
 medical management
 Some children have no symptoms, and require no medication. However,
many children may need to take medications to help the heart work more efficiently,
due to the strain from the extra blood passing through the VSD. Medications that may
be prescribed include the following:
o digoxin - a medication that helps strengthen the heart muscle, enabling it
to pump more efficiently.
o diuretics - the body's water balance can be affected when the heart is not
working as well as it could. These medications help the kidneys remove excess fluid
from the lungs and the body.
o ACE inhibitors - medications that lower the blood pressue in the body,
making it easier for the blood to be pumped from the left ventricle into the body (because
of its lowered blood pressure) rather than that blood being pumped from the left
ventricle across the VSD into the right ventricle then into the lungs.
 adequate nutrition
Surgical repair is indicated between 3 and 12 months of age. This is necessary to
prevent the development of pulmonary vascular disease in children who have large
L→R shunts. Surgery is indicated earlier in the small infant who is failing to thrive. The
defect is closed with a patch of the child's own pericardium or with synthetic material
while on CPB. Postoperative complications include atrial arrhythmias, complete heart
block, ventricular arrhythmias, and residual shunt or leaking at the sight of the VSD
patch.
Children with small unrepaired VSDs exhibit life span and health similar to the
unaffected population. For children with large VSDs repaired in the first two years of
life, the long-term outlook for normal health is excellent. Surgical mortality is less than
5% when performed in the first year of life. Those who have surgery after two years of
age may have residual problems with arrhythmias and depressed myocardial function.
When and if this will occur is difficult to predict.
 Patent Ductus Arteriosus
The ductus arteriosus is a direct connection between the main pulmonary artery
and the aorta. In the fetus the ductus arteriosus is necessary for survival. In the preterm
infant it is a common finding simply based on developmental immaturity. In the term
newborn the ductus begins to close within twelve hours and should be completely closed
by 2-3 months. A ductus that remains open, in a full-term baby, after several weeks of
life is termed a patent ductus arteriosus (PDA).

The incidence of PDA in a non-premature infant is approximately 5-10% of all

CHD. The incidence in the premature infant is dramatically higher at 45% in infants
who weigh less than 1,750 grams and up to 80% in infants weighing less than 1,000
grams.
Pathophysiology
The hemodynamic effect of a PDA is similar to other defects with left to right
shunts. Blood from the high pressure aorta flows directly into the low pressure
pulmonary artery and pulmonary circulation. The degree of shunting depends on the
size of the PDA as well as the pulmonary vascular resistance. This increase in
pulmonary blood flow can contribute to CHF.
Clinical Manifestations
The degree of symptoms experienced by the infant will depend on the size of the
shunt. The infant with a small PDA will generally be asymptomatic. The infant with a
large PDA will have signs of CHF.
 Diagnosis
The murmur of a PDA is often continuous and is best heard just below the left
clavicle. Chest X-ray is usually normal and diagnosis is generally made with
echocardiogram. Cardiac cath is not necessary for the diagnosis of a PDA.
Treatment
In the premature infant closure of the PDA is attempted by the infusion of
indomethacin, which inhibits the synthesis of prostaglandin. Prostaglandins are a group
of fatty acid substances present in many tissues and are responsible for a number of
cellular interactions. They are responsible for maintaining patency of the ductus
arteriosus. Closure is indicated in the full-term symptomatic (CHF) infant with a PDA.
Indomethacin is not effective in full-term infants.
Older asymptomatic children undergo elective closure before five years of age.
Surgical ligation of the PDA is made via a left thoracotomy incision without the use of
CPB. Technique for the nonsurgical treatment involves use of coils to occlude the PDA
and is performed in the catheterization laboratory. Rare postoperative complications
include injury to the recurrent laryngeal nerve causing hoarseness, or injury to the left
phrenic nerve resulting in paralysis of the left hemidiaphragm.
Normal survival and quality of life are excellent for the infant and child with a
repaired, isolated PDA. Because mortality approaches zero, it is therefore recommended
that all PDAs without pulmonary vascular disease be closed Individuals with large
unrepaired PDAs become quite symptomatic in adulthood secondary to pulmonary
complications and the development of pulmonary vascular disease.
Atrioventricuiar Septal Defect

Atrioventricular defect or atrioventricular canal (AVC) is associated with a septal

defect in the atrium and ventricle, as well as involvement of the AV valves. In this
defect, when the heart is developing the atrial and ventricular septums are not fully
completed and never meet. This in turn causes the tricuspid and mitral valves to develop
inappropriately.
The severity of the defect depends on the amount of the septum that is involved
as well as the degree of AV valve involvement.
AVC accounts for about 3% of all congenital heart defects. It should also be noted
that approximately 40% of children with Trisomy 21 (Down syndrome) have some form
of congenital heart defect and that 40% of these are associated with some degree of
AVC.
Pathophysiology
Because of the fact that there is free communication between all chambers of the
heart, blood flow patterns are dependent on the resistance to the pulmonary and systemic
circulations. In the infant whose PVR is decreasing with age, blood flow will be left to
right causing increased blood flow to the lungs. Increased pulmonary blood flow will
result in increased pulmonary venous return to the left side of the heart with left atrial
and ventricular enlargement.
Clinical Manifestations
The infant with an AVC demonstrates signs and symptoms of CHF. The murmur
can be quite variable, depending on the size of the septal defects. It is usually a long
systolic or holosystolic murmur. Virtually all infants are symptomatic by their first
birthday.
Diagnosis
On chest X-ray the heart and main pulmonary artery are enlarged.
Echocardiogram will demonstrate the degree of septal and valve involvement and is
usually diagnostic; it reveals the signs of right ventricular enlargement with
encroachment of the mitral valve echo on the left ventricular outflow tract; this
corresponds to the angiographic "goose-neck" deformity. In normal hearts, the tricuspid
valve inserts slightly more towards the apex than the mitral valve. In AV septal defects,
both valves insert at the same level due to the absence of the AV septum. In complete
AV septal defects, the ventricular septal echo is also deficient and the common AV
valve is readily appreciated. Pulsed and color flow Doppler echo will demonstrate left-
to-right shunting at atrial, ventricular, or ventricular-to-atrial levels and semiquantitate
the degree of AV valve insufficiency. Echocardiography will also aid in assessing for
the presence of commonly associated lesions such as patent ductus arteriosus (PDA) or
coarctation of the aorta. Cardiac catheterization is indicated when the diagnosis is
uncertain or if hemodynamics need to be assessed.
 Figure. Echocardiography of complete atrioventricular canal.
Treatment
The infant with AVC is treated for CHF prior to surgical repair. Surgery is usually
performed in the first year of life, but should always be completed by two years of age
because of the potential for the development of irreversible pulmonary vascular disease.
The goal of the repair is to close the atrial and septal defect and then construct new
mitral and tricuspid valves from the common AV valve. This surgery is performed while
the infant is on CPB. Potential postoperative complications include heart block,
arrhythmias, bleeding from the multiple intracardiac suture lines, and pulmonary
hypertension.
Truncus Arteriosus
 The primary anatomical features of a truncus arteriosus result from failure of the
embryologic trunk to divide into the pulmonary arteries and the aorta. Therefore, a
single arterial trunk arises from the heart giving rise to the pulmonary arteries, the aorta,
and the coronary arteries. There is also a single "truncal valve" in place of the aortic and
pulmonary valves and a large VSD. Following surgical repair this truncal valve serves
as the aortic valve.
The incidence of truncus arteriosus is approximately 1.4% of all CHD. Truncus
arteriosus can be associated with DiGeorge syndrome, which is a congenital syndrome
associated with hypoplasia or aplasia of the thymus and parathyroid gland. Any child
who is diagnosed with this lesion should have a genetic work up to evaluate for
DiGeorge.
Pathophysiology
Both oxygenated and unoxygenated blood mix together and are ejected from the
ventricles out the common trunk (common great vessel). Blood flow is then delivered
to both the pulmonary circulation and the systemic circulation. The degree of flow to
each circulation is based on vascular resistance.
In the first few hours to days of life the PVR is still elevated. Thus, there will be
little increase in pulmonary blood flow and unoxygenated blood is pumped through the
systemic circulation making the infant mildly cyanotic. When PVR begins to fall,
pulmonary flow increases making the shunt left to right. The infant will no longer be
cyanotic but may develop CHF.
Clinical Manifestations
The newborn infant, as described above, may be mildly cyanotic despite
supplemental oxygen. As PVR falls the newborn will develop signs and symptoms of
CHF. Auscultation will reveal a loud continuous murmur along with a loud click
associated with the closing of the truncal valve. Symptoms almost always develop in
the first month of life.
Diagnosis
Chest X-ray demonstrates moderate cardiomegaly. Echocardiogram is diagnostic
for truncus arteriosus, but cardiac catheterization is still indicated to determine any
questionable anatomic variations and hemodynamics.
Treatment
The infant is treated for symptoms of CHF. Surgical repair is performed within
the first six weeks of life. The repair is performed as follows: The PAs are removed
from the common trunk and the defect left in the trunk wall is sutured closed. The VSD
is repaired and a valved homograft conduit is placed connecting the RV to the PAs. A
homograft conduit is a chemically treated, human aorta or pulmonary artery, obtained
from a cadaver that is placed like a tube to conduct blood from the right ventricle to the
pulmonary artery. Postoperative complications include arrhythmias and low cardiac
output.

Defects with Decreased Pulmonary Blood Flow

In these defects the amount of blood flow to the pulmonary system is decreased
resulting in shunting of unoxygenated blood from the right side of the heart to the left
(right to left shunt). There is a mixing of oxygenated and unoxygenated blood in the
systemic circulation.
Infants with such a defect are hypoxic and cyanotic. An increase in the
hematocrit (polycythemia) is frequently observed in these infants with chronic cyanosis.
Erythrocytosis (plethora) is an adaptive mechanism in which red cell production is
increased in an attempt to compensate for decreased oxygen delivery, leading to an
increase in hematocrit.
A hematocrit of 65-75% can lead to marked blood viscosity. Increases in viscosity
will also increase afterload and ventricular work. The risk of cerebral strokes also
increases if hematocrit rises above 65%. These individuals can also develop bleeding
disorders caused by a decrease in circulating clotting factors and platelets. Fortunately,
most children now undergo early surgical intervention, preventing or minimizing
erythrocytosis.
Defects with decreased pulmonary blood flow include pulmonary stenosis,
tetralogy of Fallot, transposition of the great arteries, and tricuspid atresia.

PULMONIC STENOSIS
 Pulmonary stenosis is a congenital (present at birth) defect that occurs due to
abnormal development of the fetal heart during the first 8 weeks of pregnancy.The
pulmonary valve is found between the right ventricle and the pulmonary artery. It has
three leaflets that function like a one-way door, allowing blood to flow forward into the
pulmonary artery, but not backward into the right ventricle. With pulmonary stenosis,
problems with the pulmonary valve make it harder for the leaflets to open and permit
blood to flow forward from the right ventricle to the lungs. In children, these problems
can include:
 a valve that has leaflets that are partially fused together.
 a valve that has thick leaflets that do not open all the way.
 the area above or below the pulmonary valve is narrowed.

There are four different types of pulmonary stenosis:

 valvar pulmonary stenosis - the valve leaflets are thickened and/or narrowed
 supravalvar pulmonary stenosis - the pulmonary artery just above the
pulmonary valve is narrowed
 subvalvar (infundibular) pulmonary stenosis - the muscle under the valve
area is thickened, narrowing the outflow tract from the right ventricle
 branch peripheral pulmonic stenosis - the right or left pulmonary artery is
narrowed, or both may be narrowed
Pulmonary stenosis may be present in varying degrees, classified according to
how much obstruction to blood flow is present. A child with severe pulmonary
stenosis could be quite ill, with major symptoms noted early in life. A child with mild
pulmonary stenosis may have few or no symptoms, or perhaps none until later in
adulthood. A moderate or severe degree of obstruction can become worse with time.
Congenital pulmonary stenosis occurs due to improper development of the
pulmonary valve in the first 8 weeks of fetal growth. It can be caused by a number of
factors, though most of the time this heart defect occurs sporadically (by chance), with
no clear reason evident for its development.Some congenital heart defects may have a
genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or
environmental exposure, causing heart problems to occur more often in certain families.
Mild pulmonary stenosis may not cause any symptoms. Problems can occur when
pulmonary stenosis is moderate to severe, including the following:
 The right ventricle has to work harder to try to move blood through the tight
pulmonary valve. Eventually, the right ventricle is no longer able to handle the extra
workload, and it fails to pump forward efficiently. Pressure builds up in the right atrium,
and then in the veins bringing blood back to the right side of the heart. Fluid retention
and swelling may occur.
  There is a higher than average chance of developing an infection in
the valves of the heart known as bacterial endocarditis.
The following are the most common symptoms of pulmonary stenosis. However,
each child may experience symptoms differently. Symptoms may include:
 heavy or rapid breathing
 shortness of breath
 fatigue
 rapid heart rate
 swelling in the feet, ankles, face, eyelids, and/or abdomen
 fewer wet diapers or trips to the bathroom
The symptoms of pulmonary stenosis may resemble other medical conditions or
heart problems.

Altered hemodynamic
In case of pulmonic stenosis resistance to blood flow causes the right ventricular
hypertrophy.
The child with problems related to production and circulation of blood left
ventricle causes hypertrophy and increased demands for coronary blood supply. Backup
of blood into the left atrium may cause increased pressure in that chamber and the
pulmonary veins, resulting in pulmonary vascular congestion.
Clinical Manifestations
The infant with mild to moderate PS is asymptomatic, and generally a murmur is
discovered on routine examination. Growth is generally normal for infants and children
with PS, and symptoms are usually present only in those with severe PS. The symptoms
of severe PS include dyspnea upon exertion and fatigue. Cyanosis is common with
severe PS but is not usually seen with the milder forms.
Treatment
Treatment for PS is recommended for those with moderate to severe forms.
Preoperative management with medications or exercise restriction is rarely required.
The exception to this is the neonate with what is termed critical PS. These infants are
critically ill and require the infusion of prostaglandins to maintain patency to the ductus
arteriosus. This provides adequate blood flow to the lungs until surgery can be
performed.
In most children with valvar PS a balloon valvuloplasty can be performed. This
is done in the cardiac catheterization laboratory. A valvuloplasty involves using a
balloon-tipped catheter to dilate a cardiac valve (the pulmonary). If a valvuloplasty
cannot be performed, a surgical valvotomy (an incision into a cardiac valve to correct a
defect) is the treatment of choice. During surgery the pulmonary valve is exposed and
then surgically opened relieving the obstruction. Short-term complications of
valvuloplasty include ventricular arrhythmias during the procedure, and longterm, the
child may develop pulmonary valve insufficiency. This is often mild and requires no
intervention.

TETRALOGY OF FALLOT

Tetralogy of Fallot (TOF or "TET") is a complex condition of several congenital

(present at birth) defects that occur due to abnormal development of the fetal heart
during the first 8 weeks of pregnancy. These problems include the following:
  ventricular septal defect (VSD) - an opening in the ventricular septum, or
dividing wall between the two lower chambers of the heart known as the right and left
ventricles.
 pulmonary (or right ventricular outflow tract) obstruction - a muscular
obstruction in the right ventricle, just below the pulmonary valve, that decreases the
normal flow of blood. The pulmonary valve may also be small.
 overriding aorta - the aorta is shifted towards the right side of the heart so
that it sits over the ventricular septal defect.
 "Tetralogy" refers to four heart problems. The fourth problem is that the
right ventricle becomes enlarged as it tries to pump blood past the obstruction into the
pulmonary artery.
Normally, oxygen-poor (blue) blood returns to the right atrium from the body,
travels to the right ventricle, then is pumped through the pulmonary artery into the lungs
where it receives oxygen. Oxygen-rich (red) blood returns to the left atrium from the
lungs, passes into the left ventricle, and then is pumped through the aorta out to the
body.
In tetralogy of Fallot, blood flow within the heart varies, and is largely dependent
on the size of the ventricular septal defect, and how severe the obstruction in the right
ventricle is.
 With mild right ventricle obstruction, the pressure in the right ventricle can
be slightly higher than the left. Some of the oxygen-poor (blue) blood in the right
ventricle will pass through the VSD to the left ventricle, mix with the oxygen-rich (red)
blood there, and then flow into the aorta. The rest of the oxygen-poor (blue) blood will
go its normal route to the lungs. These children may have slightly lower oxygen levels
than usual, but may not appear blue.
 With more serious obstruction in the right ventricle, it is harder for oxygen-
poor (blue) blood to flow into the pulmonary artery, so more of it passes through the
VSD into the left ventricle, mixing with oxygen-rich (red) blood, and then moving on
out to the body. These children will have lower than normal oxygen levels in the
bloodstream, and may appear blue, especially whenever the pressure in the right
ventricle is very high and large amounts of oxygen-poor (blue) blood passes through the
VSD to the left side of the heart.
Tetralogy of Fallot makes up about 5 to 7 percent of all cases of congenital heart
defects and occurs equally in boys and in girls.
What causes tetralogy of Fallot?
Some congenital heart defects may have a genetic link, either occurring due to a
defect in a gene, a chromosome abnormality, or environmental exposure, causing heart
problems to occur more often in certain families.
 Maternal abuse of alcohol during pregnancy, leading to fetal alcohol syndrome
(FAS), is linked to tetralogy of Fallot. Mothers who take medications to control seizures
and mothers with phenylketonuria (PKU) are also more likely to have a baby with
tetralogy of Fallot.
Most of the time, this heart defect occurs sporadically (by chance), with no clear
reason evident for its development.
Why is tetralogy of Fallot a concern?
The amount of oxygen-poor (blue) blood that passes through the VSD to the left
side of the heart varies. If the right ventricle obstruction is severe, or if the pressure in
the lungs is high, a large amount of oxygen-poor (blue) blood passes through the VSD,
mixes with the oxygen-rich (red) blood in the left ventricle, and is pumped to the body.
The more blood that goes through the VSD, the less blood that goes through the
pulmonary artery to the lungs, and the less oxygen-rich (red) blood that returns to the
right side of the heart. Soon, nearly all the blood in the left ventricle is oxygen-poor
(blue). This is an emergency situation, as the body will not have enough oxygen to meet
its needs.
Some situations, such as crying, increase the pressure in the lungs temporarily,
and increasing blueness might be noted as a baby with tetralogy of Fallot cries. In other
situations, the pathway from the right ventricle to the pulmonary artery becomes tighter,
preventing much blood from passing that way, and allowing oxygen-poor (blue) blood
to flow through the VSD into the left heart circulation. Both of these situations are
nicknamed "TET spells." Sometimes, steps can be taken to lessen the pressure or the
obstruction, and allow more blood to flow into the lungs and less through the VSD.
These steps, however, are not always effective.
Clinical Manifestations
Clinical symptoms vary greatly depending on the degree of PS. The infant or child
may be profoundly cyanotic, or they may display no signs of cyanosis and be growing
normally. A loud systolic murmur is usually noted at birth. One of the most common
conditions associated with TOF is hypercyanotic episodes. These episodes are also
known as "tet or cyanotic spells" and are usually initiated by some type of activity such
as crying, feeding, or defecating. There are several theories as to the cause of
hypercyanotic spells but in general the following occurs. There is likely a decrease in
pulmonary blood flow caused by spasm of the cardiac muscle at some point within the
right ventricular outflow tract. This leads to an increase in R→L shunt, worsening
cyanosis and development of hyperpnea, deep, rapid respirations. In the normal
individual this increase in respiratory rate leads to an increase in venous return to the
heart (systemic venous return). In the client with TOF increased systemic venous return
of a large amount of unoxygenated blood leads to a decrease in arterial saturation
(caused by R→L shunt) with continuation of profound cyanosis. If left untreated the
infant or child may become unconscious or die.
Diagnosis
Chest X-ray of the child with TOF is often within normal limits although
sometimes the classic boot-shaped heart (caused by hypertrophy of the right ventricle)
is observed. Echocardiogram will demonstrate the clinical features of TOF and is the
best diagnostic tool.
Treatment
Management of the infant and child with TOF is definitive surgical correction,
but preoperative medical management is important as well. A hypercyanotic spell can
be frightening to watch and difficult to manage. Caregivers should be taught simple
measures to alleviate these symptoms. The simplest treatment for a hypercyanotic spell
is to place the infant in the knee-chest position. The older child will squat.

Figure. A child with a cyanotic heart defect squats (assumes a knee–chest position) to relieve cyanotic spells.
This measure will decrease systemic venous return of unoxygenated blood as well
as increase systemic vascular resistance in the hope of decreasing R→L shunt, allowing
more blood flow to the lungs. In the hospital, acutely ill clients are also treated with
morphine sulfate to relieve symptoms of agitation and break the cycle of hyperpnea.
Other interventions include volume resuscitation to decrease blood viscosity,
supplemental oxygen and, if necessary, medications such as phenylephrine
(administered intravenously) to increase systemic vascular resistance. An increase in the
number and severity of spells should lead to surgical palliation or complete repair.
For the infant with multiple hypercyanotic spells, a palliative modified Blalock-
Taussing (BT) shunt is often performed to assure pulmonary blood flow until complete
surgical repair is performed. A palliative procedure relieves or reduces the symptoms of
a cardiac defect but does not correct the defect. The shunt provides a fixed amount of
blood flow to the pulmonary bed and cannot grow with the child. Complete repair for
the child with TOF is usually performed between 6 and 12 months of age. The goals of
the repair are to widen the right ventricular outflow tract and to close the VSD. If a BT
shunt is present, it is taken down or occluded at the time of the definitive repair.
 Postoperative complications include low cardiac output and arrhythmias. Long-
term complications include residual VSD (leaking at the patch of the VSD) and
pulmonary regurgitation across the patch. TOF accounts for the largest number of adults
with congenital heart disease.

Transposition of the Great Arteries

Transposition of the great arteries (TGA) is a defect in which the great vessels
(aorta and the pulmonary artery) are transposed or reversed. The aorta comes off the
right ventricle and the pulmonary artery comes off the left ventricle. There is almost
always a patent foramen ovale (PFO) present.

Transposition of the great vessels (TGV) is the most common of the former group
of lesions. In TGV, the aorta arises from the right ventricle and the pulmonary artery
from the left ventricle. Systemic venous blood returning to the right atrium is pumped
directly back to the body, and oxygenated blood returning from the lungs to the left
atrium is pumped back into the lungs. The persistence of fetal pathways (foramen ovale
and ductus arteriosus) allows for a small degree of mixing in the immediate newborn
period; however, when the ductus begins to close, these infants develop extreme
cyanosis.
The total mixing lesions include those cardiac defects with a common atria or
ventricle, total anomalous pulmonary venous return, and truncus arteriosus. In this
group, deoxygenated systemic venous blood and oxygenated pulmonary venous blood
mix completely in the heart, resulting in equal oxygen saturations in the pulmonary
artery and aorta. If there is no obstruction to pulmonary blood flow, these infants present
with a combination of cyanosis and heart failure. In contrast, if pulmonary stenosis is
present, these infants present with cyanosis alone, similar to patients with tetralogy of
Fallot.

Tricuspid Atresia
Tricuspid atresia is characterized by absence of or complete closure of the
tricuspid valve and therefore no connection between the RA and the RV. Other
associated defects include ASD, VSD, and varying degrees of RV hypoplasia.
Hypolpasia refers to incomplete or underdevelopment of an organ, in this case the RV.

The incidence of tricuspid atresia is approximately 1-3% of all CHD.

Pathophysiology
In infants with tricuspid atresia there is complete mixing of systemic and
pulmonary venous return at the atrial level. Blood flow is as follows: Systemic venous
return enters the RA but cannot pass to the RV through the tricuspid valve and must
flow through an intra-atrial connection to the LA. Blood then flows to the LV and if
there is a VSD, some blood flows through the VSD to the PA. The remainder of the
blood in the left ventricle will flow out the aorta. If there is no associated VSD, then
blood flow to the lungs must be through a PDA.
Clinical Manifestations
 The infant with tricuspid atresia is generally cyanotic within the first day of life.
Cyanosis is secondary to a R→L shunt at the atrial level. Severe hypoxic spells can
occur and are related to closure of the VSD or closure of the PDA.
Diagnosis
CXR in these infants usually demonstrates enlargement of the RA, LA, and LV
with decreased pulmonary markings suggestive of decreased pulmonary blood flow.
Diagnosis is made with echocardiogram but cardiac cath is indicated to determine the
size of the RV. Unfortunately, in many clients with tricuspid atresia the right ventricle
is so small that it will never function normally, so a univentricular repair is indicated.
Treatment
Definitive treatment for the infant with tricuspid atresia is surgical. In the
preoperative period the neonate with no VSD (and therefore no pulmonary blood flow)
is treated with PGE1 to keep the ductus arteriosis open or patent until surgery can be
performed. Surgical repair for the infant with a small or no VSD and a hypoplastic RV
is considered palliative, as complete correction is not possible. This is true with any
defect that will require the child to live his or her life with only one functioning ventricle,
known as a univentricular repair.
The final palliative procedure for children with tricuspid atresia is the Fontan
procedure. It is performed in a variety of ways, but the general goal is to connect the
inferior vena cava blood return to the pulmonary artery, thereby directing all the
systemic venous return to the lungs. This will result in near normal systemic oxygen
saturation. The Fontan is generally performed when the child is greater than two years
of age.
The natural history of the unrepaired infant with tricuspid atresia without a VSD
is poor with few infants surviving past six months.

Defects that Obstruct Left Ventricular Outflow

These defects increase afterload to the left ventricle in varying degrees. Therefore,
systemic cardiac output can be limited is some individuals. Defects in this category that
will be discussed are coarctation of the aorta and aortic stenosis.

AORTIC STENOSIS
Aortic stenosis (AS) is a narrowing of the aortic valve that causes obstruction to
the left ventricular outflow and decreases the amount of blood that can be ejected from
the LV. Similar to pulmonary stenosis, there are three types of AS: subvalvar, valvar,
or supravalvar.
Pathophysiology
The primary hemodynamic impacts of this lesion are an increase in afterload,
increased ventricular work, and left ventricular hypertrophy.
 Clinical manifestation
A serious form of critical AS may occur during the neonatal period. Symptoms
of left ventricular failure, respiratory distress, faint peripheral pulses, and severe
physical limitations occur during the first 2 weeks of life. Children with less severe
stenosis may not show signs of the defect until preadolescence. Clinical manifestations
such as fainting, epigastric or anginal pain, exercise intolerance, and dizziness after
prolonged standing may occur. A serious consequence is sudden death after exertion as
a result of a severely ischemic heart.
A murmur is typically heard with aortic stenosis from blood flow through the
valve. It is heard best at the upper right stemal border to second interspace (aortic space)
and radiates to thesuprasternal notch, clavicular area, and neck. Sometimes it is
transmitted along the left sternal border to the apex. It is usually associated with a thrill.
The second heart sound is characteristically affected. Because the closure of the
aortic valve is delayed, the normal splitting of S2 is narrowed. With severe stenosis the
left ventricular ejection may be so prolonged that the closure of the pulmonic valve
occurs simultaneously or precedes that of the aortic valve. In the former instance there
is no splitting. In the latter event the usual splitting of Si narrows with inspiration (the
pulmonic component being delayed) and widens with expiration (paradoxic splitting).
Diagnostic evaluation
Diagnosis may be made on the history and physical findings alone. A
cardiac catheterization is necessary to determine the stenotic area, especially in those
children with minimal symptoms who are at risk for acute myocardial ischemia. It is
also diagnostic in terms of the surgical approach. If a thin membrane is present this is
easily removed with excellent results.
Roentgenographic studies may confirm
 - left-sided heart enlargement,
- released pulmonary vascularity,
- dilated aorta in the poststenotic area.
Electrocardiogram may show:
-left ventricular hypertrophy or may be normal in mild defects unless taken
during a period of exercise.
-Depression of the ST segment indicates myocardial ischemia and is a very
important finding in determining the need for surgery.
Echocardiography may show a thick, poorly contractile left ventricular wall and
an abnormal aortic valve.
COARCTATION OF AORTA

Coarctation of the aorta is a congenital heart defect involving a narrowing of the

aorta. Aorta is shaped like a candy cane, with the first section moving up towards the
head (ascending aorta), then curving in a C-shape as smaller arteries that are attached to
it carry blood to the head and arms (aortic arch). After the curve, the aorta becomes
straight again, and moves downward towards the abdomen, carrying blood to the lower
part of the body (descending aorta).
The narrowed segment called coarctation can occur anywhere in the aorta, but is
most likely to happen in the segment just after the aortic arch. This narrowing restricts
the amount of oxygen-rich (red) blood that can travel to the lower part of the body.
Varying degrees of narrowing can occur.
The more severe the narrowing, the more symptomatic a child will be, and the
earlier the problem will be noticed. In some cases, coarctation is noted in infancy. In
others, however, it may not be noted until school-age or adolescence.
Seventy-five percent of children with coarctation of the aorta also have a bicuspid
aortic valve – a valve that has two leaflets instead of the usual three.
Coarctation of the aorta occurs in about 8 % to 11 % of all children with
congenital heart disease. Boys have the defect twice as often as girls do.
Pathophysiology
Coarctation of the aorta causes several problems, including the following:
 The left ventricle has to work harder to try to move blood through the
narrowing in the aorta. Eventually, the left ventricle is no longer able to handle the extra
workload, and it fails to pump blood to the body efficiently.
 Blood pressure is higher above the narrowing, and lower below the
narrowing. Older children may have headaches from too much pressure in the vessels
in the head, or cramps in the legs or abdomen from too little blood flow in that region.
Also, the kidneys may not make enough urine since they require a certain amount of
blood flow and a certain blood pressure to perform this task.
 The walls of the ascending aorta, the aortic arch, or any of the arteries in
the head and arms may become weakened by high pressure. Spontaneous tears in any
of these arteries can occur, which can cause a stroke or uncontrollable bleeding.
 There is a higher than average chance of developing an infection in the
valves of the heart knows as bacterial endocarditis or an infection in the aorta itself
known as bacterial endarteritis. Both of these complications are exceedingly rare.
 The coronary arteries, which supply oxygen-rich (red) blood to the heart
muscle, may narrow in response to elevated pressure.
Clinical Manifestations
The symptomatic infant with severe coarctation is likely to present in CHF once
the PDA has closed. This is secondary to the inability of the LV to eject its contents
with a subsequent backup of blood from the left side of the heart to the lungs. A decrease
in systemic cardiac output will lead to shock, acidosis, and death unless medical
intervention is initiated.
The older child with coarctation is generally asymptomatic, and the diagnosis is
made when the child is sent for evaluation of a murmur or hypertension. The classic
clinical finding in the child with coarctation is upper extremity hypertension and a
noticeable difference in blood pressure between the arms and legs. There are also
diminished pulses in the lower extremities. The simple tasks of palpating four extremity
pulses and taking four extremity blood pressures should be part of all routine pediatric
examinations.
Diagnosis
Diagnosis of coarctation is made on clinical examination and echocardiogram.
Chest X-ray of the infant may be normal or there may be cardiomegaly. Cardiac
catheterization is not indicated for diagnosis. MRI is indicated if there is need to define
associated defects or collateral circulation. The severity of coarctation is determined by
the arm/leg pressure gradient. Upper extremity blood pressure should be measured in
the right arm, as this will always be the proximal pressure. A lower extremity blood
pressure will always be the distal pressure. Measurements less than 20 mm Hg are
associated with mild coarctation.
Treatment
Definitive treatment for the child with coarctation is relief of the obstruction by
either surgical or balloon dilation. The most common surgical repair for the infant with
coarctation of the aorta is dissection of the stenotic area and end-to-end anastomosis (or
bringing together) of the two segments of the aorta. Surgical timing for the infant with
coarctation depends on his or her hemodynamic stability. The older child should have
an elective repair after three to five years of age as there appears to be a decreased risk
of recoarctation when the repair is performed at this age.
Balloon angioplasty can be used to dilate the stenotic area. During this procedure
a catheter with a balloon at the tip is passed via the femoral artery to the area of
coarctation. The balloon is then inflated and the area of stenosis dilated reducing the
obstruction. Angioplasty is most often used for correction of recurrent coarctation.
Medications are used in the postoperative period to control the residual
hypertension that is often present in children with coarctation of the aorta. It is essential
to control postoperative hypertension to prevent bleeding from the multiple sutures at
the area of repair in the high pressure aorta. Longterm complications after repair include
re-coarctation (particularly when the original procedure was performed during infancy)
and residual hypertension. The latter complications appears to be more significant when
the repair is performed in patients over six years of age.

WHAT IS THE DIFFERENCE BETWEEN CYANOTIC AND

ACYANOTIC HEART DEFECTS?

With cyanotic (blue) heart defects, the blood that is pumped around the body
contains less-than-normal levels of oxygen. This causes the skin to appear bluish in
colour, a condition known as cyanosis.
 The most common type of cyanotic heart defect is termed tetralogy of Fallot (see
diagram). This can result in for example, stenosis (narrowing) at or just beneath the
pulmonary valve. This narrowing partially blocks the flow of blood from the right side
of the heart to the lungs.
As a result of this condition, cyanosis may appear soon after birth, in infancy or
later in childhood. In some children, the cyanosis may become severe, resulting in rapid
breathing and possibly even unconsciousness.
Most children with this condition have open-heart surgery before they start going
to school.
Acyanotic (pink) heart defects do not generally cause the infant or child to go
blue. An example is coarctation of the aorta. The aorta is the main artery responsible for
carrying blood from the heart to the rest of the body. Coarctation results in the aorta
being constricted or pinched. This obstructs the blood flow mostly to the lower part of
the body. It also increases blood pressure above the constriction.
With this condition symptoms usually do not show at birth, however they can
begin to emerge as soon as a week after birth. A child with severe coarctation should
have surgery in early childhood, after which, long-term follow up is necessary.

References

1. Potts, N.L., Mandleco, B.L.; Pediatric Nursing: Caring for Children and
Their Families. – Cengage; 3rd edition edition (2011). – 1287 p.
2. Manual on Propaedeutic Pediatrics / S.O. Nykytyuk, N.I. Balatska, N.B.
Galyiash, N.O. Lishchenko, O.Y. Nykytyuk – Ternopil: TSMU, 2018. – 468 pp.