NONCYANOTIC CONGENITAL HEART DISEASE

ATRIAL SEPTAL DEFECT OF THE OSTIUM SECUNDUM VARIETY

ESSENTIALS OF DIAGNOSIS &

TYPICAL FEATURES

 Right ventricular heave.

 S2 widely split and usually fixed.
 Grade I–III/VI ejection systolic murmur at the pulmonary area.
 Widely radiating systolic murmur mimicking peripheral pulmonary artery stenosis
(common in infancy).
 Diastolic flow murmur at the lower left sternal border (if the shunt is significant in size).
 ECG with rsR' in lead V1.

General Considerations
An ASD is an opening in the atrial septum permitting the shunting of blood between the two
atria. There are three major types: (1) The ostium secundum type (discussed here) is the most
common and is in the middle of the septum in the region of the foramen ovale. (2) The sinus
venosus type is positioned high in the atrial septum, is the least common, and is frequently
associated with partial anomalous pulmonary venous return. (3) The ostium primum type is low
in position and is a form of atrioventricular septal defect. It is discussed in that section.
ASD of the ostium secundum variety occurs in approximately 10% of patients with congenital
heart disease and is twice as common in females as in males. Diagnosis in infancy is becoming
more common. Pulmonary hypertension and growth failure are uncommon but occur
occasionally in infancy and childhood. After the third decade, pulmonary vascular disease may
develop; left-to-right shunting would then decrease and right-to-left shunting begin.

Clinical Findings
A. SYMPTOMS AND SIGNS
Infants rarely present with congestive heart failure. Children with ASDs most often have no
cardiovascular symptoms. Some patients remain asymptomatic through out life; others develop
easy fatigability as older children or adults. Cyanosis does not occur unless pulmonary
hypertension develops.
The pulses are normal and equal throughout. In the usual case, the heart is hyperactive, with a
right ventricular heave felt best at the mid to lower left sternal border. There are usually no
thrills. S2 at the pulmonary area is widely split and often fixed. The pulmonary component is
normal in intensity. A grade II–III/VI ejection-type systolic murmur is heard best at the left
sternal border in the second intercostal space. This murmur is caused by increased flow across
the pulmonic valve. No murmur is heard from the flow across the ASD. A middiastolic murmur
can often be heard in the fourth intercostal space at the left sternal border. This murmur is caused
by increased flow across the tricuspid valve during diastole. The presence of this murmur
suggests a high flow (pulmonary to systemic blood flow ratio greater than 2:1).

B. IMAGING
Radiographs demonstrate cardiac enlargement. The main pulmonary artery may be dilated and
pulmonary vascular markings increased owing to pulmonary blood flow.

C. ELECTROCARDIOGRAPHY
The usual ECG shows right axis deviation with a clockwise loop in the frontal plane. In the right
precordial leads, there is usually an rsR' pattern.

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D. ECHOCARDIOGRAPHY
Echocardiography shows (1) paradoxic motion of the ventricular septum (moving in the same
direction as the left ventricular free wall) and (2) a dilated right ventricle. Direct visualization of
the ASD by two-dimensional echocardiography, plus demonstration of a left-to-right shunt
through the defect by color flow Doppler, confirms the diagnosis and has largely eliminated the
need for cardiac catheterization prior to open heart surgery. During the echocardiography
evaluation, a careful assessment of the entry of all of the pulmonary veins into the left atrium is
made to rule out partial or total anomalous pulmonary venous return.

VENTRICULAR SEPTAL DEFECT

ESSENTIALS OF DIAGNOSIS &

TYPICAL FEATURES
Small- to moderate-sized left-to-right shunt without pulmonary hypertension:
 Acyanotic, relatively asymptomatic.
 Grade II–IV/VI pansystolic murmur, maximal along the lower left sternal border.
 P2 not accentuated.

Large left-to-right shunt:

 Acyanotic.
 Easy fatigability.
 Congestive heart failure in infancy (often).
 Hyperactive heart; biventricular enlargement.
 Grade II–IV/VI pansystolic murmur, maximal at the lower left sternal border.
 P2 usually accentuated.
 Diastolic flow murmur at the apex.

Insignificant left-to-right shunt or bidirectional shunt with pulmonary hypertension:

 Quiet precordium with right ventricular lift.
 Palpable P2.
 Short ejection systolic murmur along the left sternal border; single accentuated S2.
 Systemic arterial oxygen desaturation may be present; pulmonary arterial pressure and
systemic arterial pressures are equal; little or no oxygen saturation increase at the right
ventricular level by catheterization.

General Considerations
Simple VSD is the single most common congenital heart malformation, accounting for about
30% of all cases of congenital heart disease. Defects in the ventricular septum occur both in the
membranous portion of the septum (most common) and in the muscular portion.
VSDs follow one of four courses:

Clinical Findings
A. SYMPTOMS AND SIGNS
Patients with small or moderate left-to-right shunts usually have no cardiovascular symptoms.
Patients with large left-to-right shunts are usually ill early in infancy. Such patients have frequent
respiratory infections, including bouts of pneumonia. They grow slowly, with very poor weight
gain. Dyspnea, exercise intolerance, and fatigue are common. Congestive heart failure develops
between ages 1 and 6 months. Patients who survive the first year usually improve, although easy
fatigability may persist. With severe pulmonary hypertension (Eisenmenger syndrome), cyanosis
is present.

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1. Small left-to-right shunt— There are usually no lifts, heaves, or thrills. The first sound at the
apex is normal, and the second sound at the pulmonary area is split physiologically. The
pulmonary component is normal. A grade II–IV/VI, medium- to high-pitched, harsh pansystolic
murmur is heard best at the left sternal border in the third and fourth intercostal spaces. There is
radiation over the entire precordium. No diastolic murmurs are heard.
2. Moderate left-to-right shunt— Slight prominence of the precordium is common. There is a
moderate left ventricular heave. A systolic thrill may be palpable at the lower left sternal border
between the third and fourth intercostal spaces. The second sound at the pulmonary area is most
often split but may be single. A grade III–IV/VI, harsh pansystolic murmur is heard best at the
lower left sternal border in the fourth intercostal space. If a mitral diastolic flow murmur is
heard, this indicates that the pulmonary venous return is large and that the pulmonary to systemic
blood flow ratio is at least 2:1.
3. Large ventricular septal defects with pulmonary hypertension— The precordium is prominent,
and the sternum bulges. A left ventricular thrust and a right ventricular heave are palpable. S2
may be felt at the pulmonary area. A thrill may or may not be present at the lower left sternal
border. S2 is usually single or narrowly split, with accentuation of the pulmonary component.
The murmur ranges from grade II to grade IV/VI and is usually harsh and pansystolic.
Occasionally, when the defect is large, very little murmur can be heard. A diastolic flow murmur
may or may not be heard, depending on the size of the shunt.

B. IMAGING
X-ray findings of the chest vary, depending on the size of the shunt. In patients with small
shunts, the x-ray may be normal. Patients with large shunts usually show significant cardiac
enlargement involving both the left and right ventricles and the left atrium. The aorta is small to
normal in size, and the main pulmonary artery segment is dilated. The pulmonary vascular
markings are increased significantly in patients who have large shunts.

C. ELECTROCARDIOGRAPHY
The ECG is normal in patients who have small left-to-right shunts. Left ventricular hypertrophy
usually occurs in patients who have large left-to-right shunts and normal pulmonary vascular
resistance (moderate-sized defects). Combined ventricular hypertrophy (both right and left)
occurs in patients who have pulmonary hypertension caused by increased flow, increased
resistance, or both. Pure right ventricular hypertrophy occurs in patients who have pulmonary
hypertension secondary to pulmonary vascular obstruction (Eisenmenger syndrome).

D. ECHOCARDIOGRAPHY
Two-dimensional echocardiography provides visualization of defects that are 2 mm or larger and
often can be used to pinpoint the anatomic location of the defect. The addition of color flow
Doppler allows detection of virtually all VSDs, including the smallest defects. Multiple defects
can be detected by combining two-dimensional and color flow imaging. Doppler can aid in the
evaluation of VSDs by estimating the pressure difference (if any) between the left and right
ventricles. A pressure difference greater than 50 mm Hg indicates the absence of severe
pulmonary hypertension. The combination of excellent visualization of the VSD using
echocardiography and Doppler plus the ability to estimate right-sided heart pressures by
knowing the systemic blood pressure, and utilizing the pressure drop by Doppler from the left to
the right ventricle, allows many VSDs to be repaired surgically without cardiac catheterization
and angiocardiography.
Course & Prognosis
Significant late dysrhythmias are uncommon. Functional exercise capacity and oxygen
consumption are usually normal, and physical restrictions are unnecessary. Adults with corrected
defects have a normal quality of life. With complete VSD closure, antibiotic prophylaxis for
bacterial endocarditis can be discontinued 6 months after surgery.

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PATENT DUCTUS ARTERIOSUS

ESSENTIALS OF DIAGNOSIS &

TYPICAL FEATURES
 Variable murmur, with active precordium and full pulses, in newborn premature infants.
 Continuous murmur and full pulses in older infants.

General Considerations
PDA is the persistence of the normal fetal vessel that joins the pulmonary artery to the aorta. It
closes spontaneously in normal term infants at 3–5 days of age. It is a common abnormality,
accounting for about 10% of all cases of congenital heart disease. There is a higher incidence of
PDA in infants born at high altitudes (over 10,000 ft). It is twice as common in females as in
males. In preterm infants weighing less than 1500 g, the frequency of PDA may be as high as
20–60%.
The defect occurs as an isolated abnormality, but associated lesions sometimes occur.
Coarctation of the aorta and VSDs are commonly associated with PDA. Even more important to
recognize are those patients with murmurs of PDA but without readily apparent findings of other
associated lesions who are being kept alive by the patent ductus (eg, a patient with PDA with
unsuspected pulmonary atresia).

Clinical Findings
A. SYMPTOMS AND SIGNS
The clinical findings and the clinical course depend on the size of the shunt and the degree of
pulmonary hypertension.
1. Typical patent ductus arteriosus— The pulses are bounding and pulse pressure is widened. S1
is normal. S2 is usually narrowly split and very rarely (when the shunt is maximal) paradoxically
split (ie, S2 closes on inspiration and splits on expiration). The paradoxic splitting is caused by
the volume overload of the left ventricle and the prolonged ejection of blood from this chamber.
The murmur is quite characteristic. It is a very rough “machinery” murmur that is maximal at the
second intercostal space at the left sternal border and inferior to the left clavicle. It begins shortly
after S1, rises to a peak at S2, and passes through the S2 into diastole, where it becomes a
decrescendo murmur and fades before the S1. The murmur tends to radiate fairly well over the
lung fields anteriorly but relatively poorly over the lung fields posteriorly. A diastolic flow
murmur is often heard at the apex.
2. Patent ductus arteriosus with pulmonary hypertension— The physical findings depend on the
cause of the pulmonary hypertension. If pulmonary hypertension is primarily the result of a
marked increase in blood flow and only a slight increase in pulmonary vascular resistance, the
physical findings are similar to those listed above. The significant difference is the presence of
an accentuated pulmonary component of S2. Bounding pulses and a loud continuous heart
murmur are present. In patients with increased pulmonary vascular resistance, the findings are
quite different. S2 is single and quite accentuated, and there is no significant heart murmur. The
pulses are normal rather than bounding.
3. Patent ductus arteriosus in the premature neonate with associated respiratory distress
syndrome— A preterm neonate during or after the respiratory distress syndrome may have a
significant PDA that is difficult to detect by auscultation but that is often clinically significant. A
soft, nonspecific systolic murmur or no murmur is heard rather than the classic continuous
murmur. The peripheral pulses may be increased, which is a helpful sign. An early sign
indicating the presence of a significant left-to-right shunt with concomitant congestive heart
failure is increasing dependence on oxygen and respiratory support. In addition, the chest x-ray
may show cardiomegaly. In any case, echocardiography must be performed to determine the
presence or absence of a PDA in the premature infant with lung disease.
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B. IMAGING
In simple PDA, the x-ray appearance depends on the size of the shunt. If the shunt is relatively
small, the heart is not enlarged. If the shunt is large, evidence indicates both left atrial and left
ventricular enlargement. In both cases, the aorta is prominent, as is the main pulmonary artery
segment.

C. ELECTROCARDIOGRAPHY
The ECG may be normal or may show left ventricular hypertrophy, depending on the size of the
shunt. In patients with pulmonary hypertension caused by increased blood flow, biventricular
hypertrophy usually occurs. In those with pulmonary vascular obstructive disease, pure right
ventricular hypertrophy occurs.

D. ECHOCARDIOGRAPHY
The use of color flow, pulsed Doppler ultrasonography, and two-dimensional echocardiography
provides direct visualization of the ductus and confirmation of the direction and degree of
shunting. Preterm infants with a suspected PDA should have a complete echocardiographic
evaluation to make a definitive diagnosis, assess the magnitude of the left-to-right shunt, and to
rule out associated, particularly ductus-dependent, lesions.
.
Course & Prognosis
Patients with simple PDA and small to moderate shunts usually do quite well even without
surgery. However, in the third or fourth decade of life, symptoms of easy fatigability, dyspnea on
exertion, and exercise intolerance appear, usually as a consequence of the development of
pulmonary hypertension or congestive heart failure.
Spontaneous closure of a PDA may occur up to age 1 year. This is especially true in infants who
were born preterm. After age 1 year, spontaneous closure is rare. Because infective endocarditis
is a potential complication, closure by coil embolization or surgery is recommended if the defect
persists beyond age 1 year.
Patients with large shunts or pulmonary hypertension do not do as well. Poor growth and
development, frequent episodes of pneumonia, and the development of congestive heart failure
occur in these children. Therefore, patients with PDA and large shunts who are beyond the
newborn period should have immediate surgical ligation of their PDA.

MITRAL VALVE PROLAPSE

ESSENTIALS OF DIAGNOSIS &

TYPICAL FEATURES
 Midsystolic click best heard with the patient in the standing or squatting position.
 Occasional late systolic murmur.

General Considerations
Mitral valve prolapse is a common entity associated with abnormal auscultatory findings in older
pediatric patients. It is secondary to redundant valve tissue or abnormal tissue comprising the
mitral valve apparatus. The mitral valve prolapses, moving posteriorly or superiorly into the left
atrium during ventricular systole. A midsystolic click occurs at the time of this movement and is
the clinical hallmark of this entity. Mitral insufficiency may occur late in systole, causing an
atypical, short, late systolic murmur with variable radiation. Mitral valve prolapse occurs in
about 2% of thin adolescent females, a minority of whom have concomitant mitral insufficiency.
Clinical Findings
A. SYMPTOMS AND SIGNS
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The vast majority of patients with mitral valve prolapse are asymptomatic. Chest pain,
palpitations, and dizziness are reported, but it is not clear that these symptoms are more common
in affected patients than in the normal population. Significant dysrhythmias are uncommon, and
true exercise intolerance is rare. The standard approach to auscultation must be modified to
diagnose mitral valve prolapse; that is, auscultation should be performed with the patient placed
in various positions. Clicks with or without systolic murmur are elicited more commonly in the
standing and squatting positions than in the supine and sitting positions. The systolic click occurs
earlier in children than in adults; that is, it tends to be midsystolic rather than late systolic.
Although it is usually heard at the apex, it may be audible at the left sternal border or even
occasionally may be panthoracic. A midsystolic or systolic murmur following the click implies
mitral insufficiency and is much less common than isolated prolapse. The murmur tends to be
atypical for mitral insufficiency in that it is not pansystolic and radiates to the sternum rather
than to the left axilla. A coexistent diastolic murmur of relative or real mitral stenosis is rare.
Occasionally, a systolic “honk” is heard.

B. IMAGING
In the rare case of significant mitral insufficiency, the left atrium may be enlarged. This is
visualized best on lateral x-ray. Most chest x-rays show normal findings, and their use is
therefore largely unwarranted.

C. ELECTROCARDIOGRAPHY
Despite the fact that flat or inverted T waves in precordial lead V6 have been reported, almost all
electrocardiographic findings are normal. Disabling chest pain is rare and should be assessed
with ergometric electrocardiography.

D. ECHOCARDIOGRAPHY
Significant posterior systolic movement of the mitral valve leaflets to the atrial side of the mitral
annulus during systole is diagnostic. False-positive results are caused by multiple leaflet images
or the presence of insignificant posterior systolic valve movement. False-negative results are also
common, partly because of performance of the procedure when the patient is in the supine
position. If the physical findings are typical for isolated prolapse, echocardiography can assess
the degree of myxomatous change of the mitral valve.
Treatment & Prognosis
Use of oral propranolol may be effective in rare cases of disabling chest pain. Prophylaxis for
infectious endocarditis is indicated only in individuals with associated mitral insufficiency.
The natural course of this disease is largely unknown. Twenty years of observation indicate that
mitral valve prolapse in childhood is a largely benign entity. It merges with a common variation
from normal in slender children and is associated with an asthenic body build that presumably
results from altered geometry of the left ventricle and mitral valve. Surgery for clinically
significant mitral insufficiency is very rarely needed.

CYANOTIC CONGENITAL HEART DISEASE

Tetralogy Of Fallot

ESSENTIALS OF DIAGNOSIS &

TYPICAL FEATURES
 Cyanosis after the neonatal period.
 Hypoxemic spells during infancy.
 Right-sided aortic arch in 25% of patients.
 Systolic ejection murmur at the upper left sternal border.

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General Considerations
In tetralogy of Fallot, a VSD is present and obstruction to right ventricular outflow occurs such
that the intracardiac shunt is typically from right to left. This is the most common cyanotic
lesion, accounting for 10% of all cases of congenital heart disease. The VSD is usually located in
the membranous portion of the septum but may be surrounded completely by muscular tissue,
and it is quite large. The obstruction to right ventricular outflow may be primarily at the
infundibular level (in 25–50% of cases), at the valvular level alone (rarely), or at both levels
(most commonly). The primary embryologic abnormality is in the septation of the conus and
truncus arteriosus with anterior deviation of the conus into the right ventricular outflow tract,
resulting in an enlarged overriding aorta and hypoplasia of the pulmonary outflow. Experimental
lesions in specific loci of ectodermal (neural crest) tissue that migrate to the conus can reproduce
the defects seen in tetralogy of Fallot. The term “tetralogy” has been used to describe this
combination of lesions, because there is always right ventricular hypertrophy and a varying
degree of overriding of the aorta in addition to the VSD and pulmonic and subpulmonic
pulmonic stenosis. The overriding is caused by the anterior deviation of the conus, which brings
the anterior wall of the aorta forward with it. A right-sided aortic arch is present in 25% of cases,
and an ASD occurs in 15%.
Obstruction to right ventricular outflow plus a large VSD results in a right-to-left shunt at the
ventricular level and desaturation of the arterial blood. The degree of desaturation depends on the
resistance to outflow from the right ventricle, and the systemic vascular resistance. The greater
the obstruction, and the lower the systemic vascular resistance, the greater the right-to-left shunt.
Although the patient may be deeply cyanotic, the amount of pressure the right ventricle can
develop is limited to that of the systemic (aortic) pressure because the VSD is unrestrictive. The
right ventricle is usually able to maintain this level of pressure without developing heart failure.
A high association between tetralogy of Fallot and deletions in the long arm of chromosome 22
(22q11) has now been established, and as many as 15% of children with tetralogy appear to have
this genetic abnormality.

Clinical Findings
A. SYMPTOMS AND SIGNS
The clinical findings vary depending on the degree of right ventricular outflow obstruction.
Patients with a mild degree of obstruction are only minimally cyanotic or may even be acyanotic.
Those with maximal obstruction are deeply cyanotic from birth. Few children are asymptomatic.
Most have cyanosis by age 4 months, and the cyanosis usually is progressive. Growth and

7
development are retarded, and easy fatigability and dyspnea on exertion are common. When
these children have learned to walk, they frequently will squat suddenly to ward off cyanotic
spells.
Hypoxemic spells, also called cyanotic spells or tet spells, are one of the hallmarks of severe
tetralogy of Fallot and are characterized by the following signs and symptoms: (1) sudden onset
of cyanosis or deepening of cyanosis; (2) sudden onset of dyspnea; (3) alterations in
consciousness, encompassing a spectrum from irritability to syncope; and (4) decrease in
intensity or even disappearance of the systolic murmur. These episodes may begin in the
neonatal period, but most commonly they start at age 4–6 months. Acute treatment of cyanotic
spells consists of giving oxygen and placing the patient in the knee-chest position. Acidosis, if
present, should be corrected with intravenous sodium bicarbonate. Morphine sulfate should be
administered cautiously by a parenteral route in a dosage of 0.1 mg/kg. Propranolol, 0.1–0.2
mg/kg intravenously, is useful. Chronic (daily) prophylaxis of cyanotic spells with propranolol, 1
mg/kg orally every 4 hours while awake, remains controversial; however, in a significant number
of patients, this regimen has prevented subsequent spells and made it possible to delay surgery.
Patients with tetralogy are usually small and thin. The degree of cyanosis is variable. The fingers
and toes show varying degrees of clubbing depending on the age of the child and the severity of
the cyanosis.
On examination of the heart, a right ventricular lift is palpable. S1 is normal; occasionally, there
is an ejection click at the apex that is aortic in origin. S2 is predominantly aortic and single.
There is a grade II–IV/VI, rough, ejection-type systolic murmur that is maximal at the left sternal
border in the third intercostal space and that radiates well to the back.

B. LABORATORY FINDINGS
The hemoglobin, hematocrit, and red blood cell count are usually mildly to markedly elevated,
depending on the degree of arterial oxygen desaturation.

C. IMAGING
Chest x-rays show the heart size to be normal, and indeed the x-ray may sometimes be
interpreted as being entirely normal. However, the right ventricle is hypertrophied, which is
often shown in the posteroanterior projection by an upturning of the apex (boot-shaped heart).
The main pulmonary artery segment is usually concave, and a right aortic arch is present in 25%
of cases with the aortic knob to the right of the trachea. The pulmonary vascular markings are
usually decreased.

D. ELECTROCARDIOGRAPHY
The cardiac axis is to the right, ranging from +90 to +180 degrees. The P waves are usually
normal, although evidence may indicate slight right atrial hypertrophy. Right ventricular
hypertrophy is always present, but right ventricular strain patterns are rare.

E. ECHOCARDIOGRAPHY
Two-dimensional imaging is diagnostic, revealing thickening of the right ventricular wall, with
overriding of the aorta and a large subaortic VSD. Furthermore, obstruction at the level of the
infundibulum and pulmonary valve can be identified, and the size of the proximal pulmonary
arteries can be measured. The anatomy of the coronary arteries may be visualized.

Treatment
A. PALLIATIVE TREATMENT
Palliative treatment is performed at some centers for small infants who are markedly
symptomatic (severely cyanotic, frequent severe hypoxic spells) and in whom complete
correction is deemed to be too risky. Medical (chronic oral b-blocking agents) or, more often,
surgical (creation of a systemic arterial to pulmonary arterial anastomosis) palliation can be used.
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In addition, balloon angioplasty, to dilate the pulmonic valve and the entire right ventricular
outflow tract in order to reduce right ventricular outflow tract obstruction and improve
pulmonary artery growth, is now being used as palliation in some centers. The most common
surgical palliation is the creation of a Gore-Tex shunt from the subclavian artery to the ipsilateral
pulmonary artery (modified Blalock-Taussig shunt). This operation can be done with very low
mortality and with no significant distortion of the pulmonary arteries.
B. TOTAL CORRECTION
The timing of total correction ranges from birth to age 2 years, varying with the philosophies and
results of each treatment center. It involves closing the VSD and removing the obstruction to
right ventricular outflow. The surgical death rate varies from 1% to 3%. The major limiting
anatomic feature of total correction is the size of the pulmonary arteries.
Course & Prognosis
Infants with the most severe form of the disease are usually deeply cyanotic at birth. Hypoxemic
spells may occur during the neonatal period. Death is extremely rare during a severe hypoxemic
spell. These children require early surgery, either a Blalock-Taussig shunt or primary correction.
All children with tetralogy of Fallot require open heart surgery. Complete repair before age 5
years usually results in fair to good function, although patients occasionally die as a result of
ventricular dysrhythmias. A competent pulmonary valve without a dilated right ventricle appears
to diminish arrhythmias and enhance exercise performance.

Hypercyanotic Spell of Tetralogy of Fallot

Synonyms:Tetralogy spells, "Tet spells", Hypoxemic spell or paroxysmal hypoxemia

Associated Clinical Features
1. Tetralogy of Fallot (TOF) consists of a spectrum of anatomic abnormalities ("tetrad") that
includes:
a. A large unrestrictive malaligned ventricular septal defect (VSD)
b. Right ventricular (RV) outflow tract obstruction (infundibular pulmonary stenosis); the
severity of pulmonic stenosis ranges from mild to severe pulmonary stenosis or to pulmonary
atresia
c. RV hypertrophy
d. Dextroposition (overriding) of the aorta

2. Clinical presentation of TOF (depends on the nature and degree of infundibular

pulmonary stenosis):
a. An ejection systolic murmur is normally heard at the mid-upper left sternal border
(murmur of pulmonary stenosis) and may radiate toward the back.
b. The loudness of the murmur depends on the volume of blood flowing across the outflow
tract.
c. Varying degrees of cyanosis due to right-to-left shunt resulting in an oxygen saturation of
75 to 85%
d. Cyanosis shows minimal improvement with O2 supplementation
e. Increased RV impulse at the lower left sternal border (due to RV hypertrophy)
f. Loud single heart sound (pulmonary closure sound very soft)
g. Digital clubbing
h. Hypercyanotic spell of TOF:
1) Cyanotic spells in infants and children with TOF are referred as hypercyanotic spells
2) Increased RV outflow tract obstruction exaggerates a right-to-left shunt, resulting in a
decrease in pulmonary blood flow and a hypercyanotic spell (nearly all of the blood in the RV
crosses through the VSD and enters the aorta).

3. Complete blood count shows polycythemia (compensatory due to chronic hypoxemia).

9
4. The ECG shows RV hypertrophy with right axis deviation.
5. Radiography:
a. Infants: normal chest radiograph or may show only decreased pulmonary vascular
markings
b. Older children: "Boot-shaped heart"
c. About 25% of patients with TOF have a right-sided aortic arch.

Clinical Pearls: Hypercyanotic Spell of Tetralogy of Fallot

1. Two hallmarks of TOF are a pulmonary stenosis murmur and cyanosis.
2. Hypercyanotic spells of TOF are very dramatic in their presentation. Failure to
recognize the spell and to intervene immediately may result in hypoxic seizures, profound
metabolic acidosis, cerebrovascular accident (due to polycythemia/hyperviscosity), deterioration
in cardiac rhythm, and death.
3. Increasing cyanosis in a child with a prior history of heart disease or prior history of
squatting with exertion is an important clue indicating a potential hypercyanotic spell.
4. A notable absence or lessening of a previously heard heart murmur in a cyanotic child
is the most important clue suggesting a hypercyanotic spell.
Hypercyanotic Spell of Tetralogy of Fallot
Characteristic presenting features:
• Spells usually occur in the morning shortly after awakening (but may occur anytime).
• Spells are self-limited and usually last <15 to 30 minutes.
• Spells may occur spontaneously.
• Spells precipitated by stress, dehydration, injury, sudden fright, or anything that makes
the infant cry
• Profound cyanosis (or history of increasing cyanosis) in a child with prior history of
heart disease
• Prior history of squatting or knee-chest position with exertion

During the spell the infant or child may present with any of the following:
(1) Irritability/crying/agitation (signs of hypoxemia)
(2) Lethargy
(3) Profound cyanosis
(4) Unconsciousness
(5) Syncope (recurrent or prolonged)
(6) Seizures
(7) Cerebrovascular accidents (associated with polycythemia)
(8) Notable absence or decrease in intensity of a previously heard heart murmur (due to
decreased antegrade flow into the pulmonary arteries)
(9) Increased rate and depth of respiration (hyperpnea, an important feature)
(10) Increased right-to-left shunting during the spell, leading to hypoxemia, hypercapnia, and
acidosis, leading to a decrease in systemic vascular resistance (SVR), which may further
exaggerate the right-to-left shunt; hypoxia and acidosis stimulate the respiratory center to
maintain and deepen the hyperpnea.

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