CHAPTER 143  Acyanotic Congenital Heart Disease 545

Although the location of the VSD is important prognostically

CHAPTER143  and in approach to repair, the amount of flow crossing a VSD
depends on the size of the defect and the pulmonary vascular
Acyanotic Congenital resistance. Large VSDs are not symptomatic at birth because
the pulmonary vascular resistance is normally elevated at this
Heart Disease time. As the pulmonary vascular resistance decreases over
the first 6-8 weeks of life, the amount of shunt increases, and
symptoms may develop.
Decision-Making Algorithm
Available @ StudentConsult.com

Heart Murmurs Clinical Manifestations

ETIOLOGY AND EPIDEMIOLOGY
Congenital heart disease occurs in 8 per 1,000 births. The
spectrum of lesions ranges from asymptomatic to fatal. Although
most cases of congenital heart disease are multifactorial, some
lesions are associated with chromosomal disorders, single gene
defects, teratogens, or maternal metabolic disease (see Table
139-2).
Congenital heart defects can be divided into three pathophysi-
ological groups (Table 143.1).
1. Left-to-right shunts
2. Right-to-left shunts
3. Obstructive, stenotic lesions
Acyanotic congenital heart disease includes left-to-right
shunts resulting in an increase in pulmonary blood flow (patent
ductus arteriosus [PDA], ventricular septal defect [VSD], atrial
septal defect [ASD]) and obstructive lesions (aortic stenosis,
pulmonary stenosis, coarctation of the aorta), which usually
have normal pulmonary blood flow.
Small VSDs with little shunt are often asymptomatic but have
a loud murmur. Moderate to large VSDs result in pulmonary
overcirculation and heart failure. The typical physical finding
with a VSD is a pansystolic murmur, usually heard best at the
lower left sternal border. There may be a thrill. Large shunts
increase flow across the mitral valve causing a mid-diastolic
murmur at the apex. The splitting of S2 and intensity of P2
depend on the pulmonary artery pressure.
Imaging Studies
Electrocardiogram (ECG) and chest x-ray findings depend on
the size of the VSD. Small VSDs usually have normal studies.
Larger VSDs cause volume overload to the left side of the heart,
resulting in ECG findings of left atrial and ventricular enlarge-
ment and hypertrophy. A chest x-ray may reveal cardiomegaly,
enlargement of the left ventricle, an increase in the pulmonary
artery silhouette, and increased pulmonary blood flow. Pul-
monary hypertension due to either increased flow or increased
pulmonary vascular resistance may lead to right ventricular
enlargement and hypertrophy.

VENTRICULAR SEPTAL DEFECT Treatment

Etiology and Epidemiology
The ventricular septum is a complex structure that can be divided
into four components. The largest component is the muscular
septum. The inlet or posterior septum comprises endocardial
cushion tissue. The subarterial or supracristal septum com-
prises conotruncal tissue. The membranous septum is below
the aortic valve and is relatively small. VSDs occur when any
of these components fail to develop normally (Fig. 143.1). VSD,
the most common congenital heart defect, accounts for 25%
of all congenital heart disease. Perimembranous VSDs are the
most common of all VSDs (67%).
Approximately one third of all VSDs close spontaneously. Small
VSDs usually close spontaneously and, if they do not close,
surgical closure may not be required. Initial treatment for
moderate to large VSDs includes diuretics with some practi-
tioners using digoxin and/or afterload reduction. Continued
AO
PA

LA

TABLE 143.1  Classification of Congenital Cardiac

Defects RA
SHUNTING
STENOTIC RIGHT → LEFT LEFT → RIGHT MIXING LV

Aortic stenosis Tetralogy Patent ductus Truncus

arteriosus
Pulmonary Transposition Ventricular TAPVR RV
stenosis septal defect
Coarctation of Tricuspid Atrial septal HLH
the aorta atresia defect
FIGURE 143.1  Ventricular septal defect. AO, Aorta; LA, left atrium;
HLH, Hypoplastic left heart syndrome; TAPVR, total anomalous pulmonary venous LV, left ventricle; PA, pulmonary artery; RA, right atrium; RV, right
return. ventricle.
546 SECTION 19  Cardiovascular System
poor growth or pulmonary hypertension despite therapy requires
closure of the defect. Most VSDs are closed surgically, but some
VSDs, especially muscular defects, can be closed with devices
placed at cardiac catheterization.
ATRIAL SEPTAL DEFECT
Etiology and Epidemiology
During the embryological development of the heart, a septum
grows toward the endocardial cushions to divide the atria.
Failure of septal growth or excessive reabsorption of tissue
leads to ASDs (Fig. 143.2). ASDs represent approximately 10%
of all congenital heart defects. A secundum defect, with the
hole in the region of the foramen ovale, is the most common
ASD. A primum ASD, located near the endocardial cushions,
may be part of a complete atrioventricular canal defect or may
be present with an intact ventricular septum. The least common
ASD is the sinus venosus defect, which may be associated
with anomalous pulmonary venous return.
Clinical Manifestations
The pathophysiology and amount of shunting depend on the
size of the defect and the relative compliance of the both
ventricles. Even with large ASDs and significant shunts, infants
and children are rarely symptomatic. A prominent right
ventricular impulse at the left lower sternal border (LLSB)
often can be palpated. A soft (grade I or II) systolic ejection
murmur in the region of the right ventricular outflow tract
and a fixed split S2 (due to overload of the right ventricle with
prolonged ejection into the pulmonary circuit) are often audible.
A larger shunt may result in a mid-diastolic murmur at the
LLSB as a result of the increased volume passing across the
tricuspid valve.
Imaging Studies
ECG and chest x-ray findings reflect the increased blood flow
through the right atrium, right ventricle, pulmonary arteries,
AO
PA
LA
RA
LV
RV
FIGURE 143.2  Atrial septal defect. AO, Aorta; LA, left atrium; LV,
left ventricle; PA, pulmonary artery; RA, right atrium; RV, right
ventricle.
and lungs. The ECG may show right axis deviation and right
ventricular enlargement. A chest radiograph may show car-
diomegaly, right atrial enlargement, and a prominent pulmonary
artery.
Treatment
Medical management is rarely indicated. If a significant shunt
is still present at around 3 years of age, closure is usually recom-
mended. Many secundum ASDs can be closed with an ASD
closure device in the catheterization laboratory. Primum and
sinus venosus defects require surgical closure.
PATENT DUCTUS ARTERIOSUS
Etiology and Epidemiology
The ductus arteriosus allows blood to flow from the pulmonary
artery to the aorta during fetal life. Failure of the normal closure
of this vessel results in a PDA (Fig. 143.3). With falling pul-
monary vascular resistance after birth, left-to-right shunting
of blood and increased pulmonary blood flow occur. Excluding
premature infants, PDAs represent approximately 5-10% of
congenital heart disease.
Clinical Manifestations
Symptoms depend on the amount of pulmonary blood flow.
The magnitude of the shunt depends on the size of the PDA
(diameter, length, and tortuosity) and the pulmonary vascular
resistance. Small PDAs are asymptomatic; moderate to large
shunts can produce the symptoms of heart failure as the pul-
monary vascular resistance decreases.
The physical examination findings depend on the size of the
shunt. A widened pulse pressure is often present as a result
of the runoff of blood into the pulmonary circulation during
diastole. A continuous, machine-like murmur can be heard
at the left infraclavicular area, radiating along the pulmonary
arteries and often well heard over the left side of the back. Larger
shunts with increased flow across the mitral valve may result
AO
PA
LA
RA
LV
RV
FIGURE 143.3  Patent ductus arteriosus. AO, Aorta; LA, left atrium;
LV, left ventricle; PA, pulmonary artery; RA, right atrium; RV, right
ventricle.

in a mid-diastolic murmur at the apex and a hyperdynamic
precordium. Splitting of S2 and intensity of P2 depend on the
pulmonary artery pressure. A thrill may be palpable.
Imaging Studies
ECG and chest x-ray findings are normal with small PDAs.
Moderate to large shunts may result in a full pulmonary artery
silhouette and increased pulmonary vascularity. ECG findings
vary from normal to evidence of left ventricular hypertrophy.
If pulmonary hypertension is present, there is also right ven-
tricular hypertrophy.
Treatment
Spontaneous closure of a PDA after a few weeks of age is
uncommon in full-term infants. Moderate and large PDAs may
be managed initially with diuretics, but they eventually require
closure. Elective closure of small, hemodynamically insignificant
PDAs is controversial. Most PDAs can be closed in the catheter-
ization laboratory by either coil embolization or a PDA closure
device.
ENDOCARDIAL CUSHION DEFECT
Etiology and Epidemiology
Endocardial cushion defects, also referred to as atrioventricular
canal defects or atrioventricular septal defects, may be complete
(Fig. 143.4), partial, or transitional. Abnormal development of
the endocardial cushion tissue results in failure of the septum
to fuse with the endocardial cushion; this results in abnormal
atrioventricular valves as well. The complete defect results
in a primum ASD, a posterior or inlet VSD, and a common
atrioventricular valve with anterior and posterior bridging
leaflets. Partial and transitional defects have two separate
atrioventricular valves, usually with a “cleft” in the anterior
leaflet of the left-sided valve. In addition to left-to-right
shunting at both levels, there may be atrioventricular valve
insufficiency.
AO
PA
LA
RA
LV
RV
FIGURE 143.4  Atrioventricular canal defects. AO, Aorta; LA, left
atrium; LV, left ventricle; PA, pulmonary artery; RA, right atrium; RV,
right ventricle.
CHAPTER 143  Acyanotic Congenital Heart Disease 547
Clinical Manifestations
The symptoms of heart failure usually develop as the pulmonary
vascular resistance decreases over the first 6-8 weeks of life.
Symptoms may be earlier and more severe with significant
atrioventricular valve insufficiency. Pulmonary hypertension
is present due to the increased pulmonary blood flow and
pulmonary vascular obstructive disease may develop early,
especially in patients with Trisomy 21. The presence of murmurs
varies depending on the amount of shunting at both atrial and
ventricular levels. If there is a large VSD component, S2 will
be single. Growth is usually poor. This is the most common
congenital heart defect in children with Trisomy 21.
Imaging Tests
The diagnosis usually is made with echocardiography. A chest
radiograph reveals cardiomegaly with enlargement of all
chambers and the presence of increased vascularity. An ECG
reveals left axis deviation and combined ventricular hyper-
trophy and may show combined atrial enlargement.
Treatment
Initial management includes diuretics. Some practitioners use
afterload reduction for treatment of heart failure but, ultimately,
surgical repair of the defect is required.
PULMONARY STENOSIS
Etiology
Pulmonary stenosis accounts for approximately 10% of all
congenital heart disease and can be valvular, subvalvular, or
supravalvular in nature. Pulmonary stenosis results from the
failure of the development, in early gestation, of the three leaflets
of the valve, insufficient resorption of infundibular tissue, or
insufficient canalization of the peripheral pulmonary
arteries.
Clinical Manifestations
Symptoms depend on the degree of obstruction present. Mild
pulmonary stenosis is asymptomatic. Moderate to severe stenosis
results in exertional dyspnea and easy fatigability. Newborns
with severe stenosis may be more symptomatic and even cyanotic
because of right-to-left shunting at the atrial level.
Pulmonary stenosis causes a systolic ejection murmur at the
second left intercostal space, which radiates to the back. A thrill
may be present. S2 may be widely split with a quiet pulmonary
component. With more severe pulmonary stenosis, an impulse
at the lower left sternal border results from right ventricular
hypertrophy. Valvular stenosis may result in a click that varies
with respiration. Worsening stenosis causes an increase in the
duration of the murmur and a higher frequency of the sound.
The systolic ejection murmurs of peripheral pulmonary stenosis
are heard distal to the site of obstruction in the pulmonary
circulation, including radiation to the axillae and back.
Imaging Tests
ECG and chest x-ray findings are normal in mild stenosis.
Moderate to severe stenosis results in right axis deviation
548 SECTION 19  Cardiovascular System
and right ventricular hypertrophy. The heart size is usually
normal on chest x-ray, although dilation of the main pul-
monary artery may be seen. Echocardiography provides
assessment of the site of stenosis, degree of hypertrophy,
valve morphology, as well as an estimate of the pressure
gradient.
Treatment
Valvular pulmonary stenosis usually does not progress, especially
if it is mild. Balloon valvuloplasty is usually successful in
reducing the gradient to acceptable levels for more significant
or symptomatic stenosis. Surgical repair is required if balloon
valvuloplasty is unsuccessful or when subvalvular (muscular)
stenosis is present.
AORTIC STENOSIS
Etiology and Epidemiology
Valvular, subvalvular, or supravalvular aortic stenosis repre-
sents approximately 5% of all congenital heart disease. Lesions
result from failure of development of the three leaflets or failure
of resorption of tissue around the valve.
Clinical Manifestations
Mild to moderate obstructions cause no symptoms. More severe
stenosis results in easy fatigability, exertional chest pain, and
syncope. Infants with critical aortic stenosis may present with
symptoms of heart failure.
A systolic ejection murmur is heard at the right second
intercostal space along the sternum and radiating into the
neck. The murmur increases in length and becomes higher in
frequency as the degree of stenosis increases. With valvular
stenosis, a systolic ejection click often is heard, and a thrill may
be present at the right upper sternal border or in the supra-
sternal notch. The aortic component of S2 may be decreased in
intensity.
Imaging Studies
ECG and chest x-ray findings are normal with mild degrees
of stenosis. Left ventricular hypertrophy develops with moder-
ate to severe stenosis and is detected on the ECG and chest
x-ray. Dilation of the ascending aorta or aortic knob due to
an intrinsic aortopathy may be seen on chest radiographs.
Echocardiography shows the site of stenosis, valve morphology,
and the presence of left ventricular hypertrophy, and it allows
an estimate of the pressure gradient.
Treatment
The degree of aortic stenosis frequently progresses with growth
and age. Aortic insufficiency often develops or progresses. Serial
follow-up with echocardiography is indicated. Balloon valvu-
loplasty is usually the first interventional procedure for sig-
nificant stenosis. It is not as successful as pulmonary balloon
valvuloplasty and has a higher risk of significant valvular
insufficiency. Surgical management is necessary when balloon
valvuloplasty is unsuccessful or significant valve insufficiency
develops.
COARCTATION OF THE AORTA
Etiology and Epidemiology
Coarctation of the aorta occurs in approximately 10% of all
congenital heart defects. It is almost always juxtaductal in
position. During development of the aortic arch, the area near
the insertion of the ductus arteriosus fails to develop correctly,
resulting in a narrowing of the aortic lumen.
Clinical Manifestations
Timing of presentation depends on the severity of obstruction
and associated cardiac defects. Infants presenting with coarcta-
tion of the aorta frequently have hypoplastic aortic arches,
abnormal aortic valves, and VSDs. They may be dependent on
a PDA to provide descending aortic flow. Symptoms develop
when the aortic ampulla of the ductus closes. Less severe
obstruction causes no symptoms.
Symptoms, including poor feeding, respiratory distress,
and shock, may develop before 2 weeks of age. Classically, the
femoral pulses are weaker and delayed compared with the
right radial pulse. The blood pressure in the lower extremities
is lower than that in the upper extremities. However, if cardiac
function is poor, these differences may not be as apparent until
appropriate resuscitation is accomplished. In this situation, there
may be no murmur, but an S3 is often present.
Older children presenting with coarctation of the aorta are
usually asymptomatic. There may be a history of leg discomfort
with exercise, headache, or epistaxis. Decreased or absent lower
extremity pulses, hypertension (upper extremity), or a murmur
may be present. The murmur is typically best heard in the left
interscapular area of the back. If significant collaterals have
developed, continuous murmurs may be heard throughout
the chest. An abnormal aortic valve is present approximately
50% of the time, causing a systolic ejection click and systolic
ejection murmur of aortic stenosis.
Imaging Studies
The ECG and chest x-ray show evidence of right ventricular
enlargement and hypertrophy in infantile coarctation with
marked cardiomegaly and pulmonary edema. Echocar-
diography shows the site of coarctation and associated
lesions. In older children, the ECG and chest x-ray usually
show left ventricular hypertrophy and a mildly enlarged
heart. Rib notching may also be seen in older children (>8
years of age) with large collaterals. Echocardiography shows
the site and degree of coarctation, the presence of left ven-
tricular hypertrophy, and the aortic valve morphology and
function.
Treatment
Management of an infant presenting with cardiac decompensa-
tion includes intravenous infusion of prostaglandin E1 (chemi-
cally opens the ductus arteriosus), inotropic agents, diuretics,
and other supportive care. Balloon angioplasty has been done,
especially in critically ill infants, but surgical repair of the
coarctation is most commonly performed. Ballooning and
stenting of older patients with coarctation has become more
accepted as primary therapy, but surgical repair remains a
common form of management.
 CHAPTER 144  Cyanotic Congenital Heart Disease 549

Other congenital heart defects that allow complete mixing

CHAPTER144  of systemic and pulmonary venous return can present with
cyanosis depending on the amount of pulmonary blood flow that
Cyanotic Congenital is present. Many cyanotic heart lesions present in the neonatal
period (Table 144.1).
Heart Disease
Decision-Making Algorithms TETRALOGY OF FALLOT
Available @ StudentConsult.com Etiology and Epidemiology
Cyanosis Tetralogy of Fallot is the most common cyanotic congenital
Heart Murmurs heart defect, representing about 10% of all congenital heart
defects (Fig. 144.1). There are four structural defects: ventricular
septal defect (VSD), pulmonary stenosis, overriding aorta,
Cyanotic congenital heart disease occurs when some of the and right ventricular hypertrophy. Tetralogy of Fallot is due
systemic venous return crosses from the right side of the heart to abnormal septation of the truncus arteriosus into the aorta
to the left and returns to the body without going through the and pulmonary artery that occurs early in gestation (3-4 weeks).
lungs (right-to-left shunt). Cyanosis, the visible sign of this The VSD is large, and the pulmonary stenosis is most commonly
shunt, occurs when approximately 5 g/100 mL of reduced subvalvular or infundibular. It may also be valvular, supraval-
hemoglobin is present in systemic blood. Thus a polycythemic vular, or, frequently, a combination of levels of obstruction.
patient appears cyanotic with a higher oxygen saturation than
a normocythemic patient. A patient with anemia requires a
higher percentage of reduced hemoglobin (lower saturation) Clinical Manifestations
for the recognition of cyanosis. Infants initially may be acyanotic. A pulmonary stenosis
The most common cyanotic congenital heart defects are murmur is the usual initial abnormal finding. The amount of
the five Ts: right-to-left shunting at the VSD (and the degree of cyanosis)
1. Tetralogy of Fallot increases as the degree of pulmonary stenosis increases. With
2. Transposition of the great arteries increasing severity of pulmonary stenosis, the murmur becomes
3. Tricuspid atresia shorter and softer. In addition to varying degrees of cyanosis
4. Truncus arteriosus and a murmur, a single S2 and right ventricular impulse at
5. Total anomalous pulmonary venous return the left sternal border are typical findings.

TABLE 144.1  Categories of Presenting Symptoms and Signs in the Neonate

SYMPTOM/SIGN PHYSIOLOGICAL CATEGORY ANATOMICAL CAUSE LESION

Cyanosis with respiratory
distress
Cyanosis without respiratory
distress
Hypoperfusion
Respiratory distress with
desaturation (not visible
cyanosis)
Respiratory distress with
normal saturation
ASD, Atrial septal defect; AV, atrioventricular; AVM, arteriovenous malformation; PDA, patent ductus arteriosus; VSD, ventricular septal defect.
Increased pulmonary blood flow Transposition d-Transposition with or without
associated lesions
Decreased pulmonary blood flow Right heart obstruction Tricuspid atresia
Ebstein anomaly
Pulmonary atresia
Pulmonary stenosis
Tetralogy of Fallot
Poor cardiac output Left heart obstruction Total anomalous pulmonary venous
return with obstruction
Aortic stenosis
Hypoplastic left heart syndrome
Poor cardiac function Normal anatomy Cardiomyopathy
Myocarditis
Bidirectional shunting Complete mixing Truncus arteriosus
AV canal
Complex single ventricle (including
heterotaxias) without pulmonary stenosis
Left-to-right shunting Simple intracardiac shunt ASD
VSD
PDA
Aortopulmonary window
AVM
550 SECTION 19  Cardiovascular System
AO
PA
LA
RA
LV
RV
FIGURE 144.1  Tetralogy of Fallot. AO, Aorta; LA, left atrium; LV,
left ventricle; PA, pulmonary artery; RA, right atrium; RV, right
ventricle.
When hypoxic (Tet) spells occur, they are usually progressive.
During a spell, the child typically becomes restless and agitated
and may cry inconsolably. An ambulatory toddler may squat.
Hyperpnea occurs with gradually increasing cyanosis and loss
of the murmur. In severe spells, prolonged unconsciousness and
convulsions, hemiparesis, or death may occur. Independent of
hypoxic spells, patients with unrepaired tetralogy of Fallot are
at increased risk for cerebral thromboembolism and cerebral
abscesses resulting, in part, from their right-to-left intracardiac
shunt.
Imaging Studies
The electrocardiogram (ECG) usually has right axis deviation
and right ventricular hypertrophy. The classic chest x-ray
finding is a boot-shaped heart created by the small main
pulmonary artery and upturned apex secondary to right
ventricular hypertrophy. Echocardiography shows the anatomical
features, including the anatomical level and quantification of
pulmonary stenosis. Coronary anomalies, most commonly a
left anterior descending coronary artery arising from the right
coronary artery and crossing the anterior surface of the right
ventricular outflow tract, are present in 5% of patients with
tetralogy of Fallot.
Treatment
The natural history of tetralogy of Fallot is progression of
pulmonary stenosis and cyanosis. Treatment of hypoxic spells
consists of oxygen administration and placing the child in the
knee-chest position (to increase venous return). Traditionally,
morphine sulfate is given (to relax the pulmonary infundibulum
and for sedation). If necessary, the systemic vascular resistance
can be increased acutely through the administration of an
α-adrenergic agonist (phenylephrine). The occurrence of a
cyanotic spell is an indication to proceed with surgical repair.
Complete surgical repair with VSD closure and removal or
patching of the pulmonary stenosis can be performed in infancy.
AO
PA
LA
RA
LV
RV
FIGURE 144.2  Transposition of the great vessels. AO, Aorta; LA,
left atrium; LV, left ventricle; PA, pulmonary artery; RA, right atrium;
RV, right ventricle.
Occasionally, palliative shunt surgery between the subclavian
artery and pulmonary artery is performed for complex forms
of tetralogy of Fallot and more complete repair is done at a
later time. Subacute bacterial endocarditis prophylaxis is
indicated until 6 months after complete repair unless there is
a residual VSD. Prophylaxis is then continued as long as there
is a residual VSD.
TRANSPOSITION OF THE GREAT ARTERIES
Etiology and Epidemiology
Although dextroposed transposition of the great arteries
represents only about 5% of congenital heart defects, it is the
most common cyanotic lesion to present in the newborn period
(Fig. 144.2). Transposition of the great arteries is ventriculoarte-
rial discordance secondary to abnormalities of septation of the
truncus arteriosus. In dextroposed transposition, the aorta
arises from the right ventricle, anterior and to the right of the
pulmonary artery, which arises from the left ventricle. This
results in desaturated blood returning to the right side of the
heart and being pumped back out to the body, while well-
oxygenated blood returning from the lungs enters the left side
of the heart and is pumped back to the lungs. Without mixing
of the two circulations, death occurs quickly. Mixing can occur
at the atrial (patent foramen ovale/atrial septal defect [ASD]),
VSD, or great vessel (patent ductus arteriosus [PDA]) level.
Clinical Manifestations
A history of cyanosis is always present, although it depends
on the amount of mixing. Quiet tachypnea and a single S2 are
typically present. If the ventricular septum is intact, there may
be no murmur.
Children with transposition and a large VSD have improved
intracardiac mixing and less cyanosis. They may present with
signs of heart failure. The heart is hyperdynamic, with palpable
left and right ventricular impulses. A loud VSD murmur is
heard. S2 is single.

Imaging Studies
ECG findings typically include right axis deviation and right
ventricular hypertrophy. The chest x-ray reveals increased
pulmonary vascularity, and the cardiac shadow is classically
an egg on a string created by the narrow superior mediastinum.
Echocardiography shows the transposition of the great arteries,
the sites and amount of mixing, and any associated lesions.
Treatment
Initial medical management includes prostaglandin E1 to
maintain ductal patency. If significant hypoxia persists on
prostaglandin therapy, a balloon atrial septostomy improves
mixing between the two circulations. Complete surgical repair
is most often an arterial switch. The arterial switch usually is
performed within the first 2 weeks of life, when the left ventricle
can still maintain systemic pressure.
TRICUSPID ATRESIA
Etiology and Epidemiology
Tricuspid atresia accounts for approximately 2% of all congenital
heart defects (Fig. 144.3). The absence of the tricuspid valve
results in a hypoplastic right ventricle. All systemic venous
return must cross the atrial septum into the left atrium. A PDA
or VSD is necessary for pulmonary blood flow and survival.
Clinical Manifestations
Infants with tricuspid atresia are usually severely cyanotic and
have a single S2. If a VSD is present, there may be a murmur.
A diastolic murmur across the mitral valve may be audible.
Frequently there is no significant murmur.
Imaging Studies
The ECG shows left ventricular hypertrophy and a superior
QRS axis (between 0 and −90 degrees). The chest x-ray
AO
PA
LA
RA
LV
FIGURE 144.3  Tricuspid atresia with ventricular septal defect. AO,
Aorta; LA, left atrium; LV, left ventricle; PA, pulmonary artery; RA,
right atrium.
CHAPTER 144  Cyanotic Congenital Heart Disease 551
reveals a normal or mildly enlarged cardiac silhouette with
decreased pulmonary blood flow. Echocardiography shows
the anatomy, associated lesions, and source of pulmonary
blood flow.
Treatment
Management initially depends on the presence of a VSD and
the amount of antegrade blood flow to the lungs. If there is no
VSD, or it is small, prostaglandin E1 maintains pulmonary blood
flow until surgery. Surgery is staged with an initial subclavian
artery-to-pulmonary shunt (Blalock-Taussig procedure)
typically followed by a two-stage procedure: bidirectional
cavopulmonary shunt (bidirectional Glenn) and Fontan
procedure. These surgeries direct systemic venous return directly
to the pulmonary arteries.
TRUNCUS ARTERIOSUS
Etiology and Epidemiology
Truncus arteriosus occurs in less than 1% of all cases of congenital
heart disease (Fig. 144.4). It results from the failure of septation
of the truncus during the first 3-4 weeks of gestation. A single
arterial trunk arises from the heart with a large VSD immediately
below the truncal valve. The pulmonary arteries arise from the
single arterial trunk either as a single vessel that divides or
individually from the arterial trunk to the lungs.
Clinical Manifestations
Varying degrees of cyanosis depend on the amount of pulmonary
blood flow. If not diagnosed at birth, the infant may develop
signs of heart failure as pulmonary vascular resistance decreases.
The signs then include tachypnea and cough. Peripheral pulses
are usually bounding as a result of the diastolic runoff into the
pulmonary arteries. A single S2 is due to the single valve. There
may be a systolic ejection click, and there is often a systolic
murmur at the left sternal border.
AO
PA
LA
RA
LV
RV
FIGURE 144.4  Truncus arteriosus. AO, Aorta; LA, left atrium; LV,
left ventricle; PA, pulmonary artery; RA, right atrium; RV, right
ventricle.
552 SECTION 19  Cardiovascular System
Imaging Studies
ECG findings include combined ventricular hypertrophy and
cardiomegaly. A chest x-ray usually reveals increased pulmo-
nary blood and may show displaced pulmonary arteries.
Echocardiography defines the anatomy, including the VSD,
truncal valve function, and origin of the pulmonary arteries.
Treatment
Medical management is usually needed and includes anticonges-
tive medications. Surgical repair includes VSD closure and
placement of a conduit between the right ventricle and pul-
monary arteries.
TOTAL ANOMALOUS PULMONARY
VENOUS RETURN
Etiology and Epidemiology
Total anomalous pulmonary venous return accounts for about
1% of congenital heart disease (Fig. 144.5). Disruption of the
development of normal pulmonary venous drainage during
the third week of gestation results in one of four abnormalities.
All of the pulmonary veins fail to connect to the left atrium
and return abnormally via the right side of the heart. They
may have supracardiac, infracardiac, cardiac, or mixed
drainage. An atrial-level communication is required for systemic
cardiac output and survival.
Clinical Manifestations
The most important determinant of presentation is the presence
or absence of obstruction to the pulmonary venous drainage.
Infants without obstruction have minimal cyanosis and may
be asymptomatic. There is a hyperactive right ventricular
impulse with a widely split S2 (owing to increased right
ventricular volume) and a systolic ejection murmur at the left
upper sternal border. There is usually a mid-diastolic murmur
at the lower left sternal border from the increased flow across
SVC
AO
PA
PV
LA
RA
IVC
LV
RV
FIGURE 144.5  Total anomalous pulmonary venous return. AO, Aorta;
IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary
artery; PV, pulmonary vein; RA, right atrium; RV, right ventricle; SVC,
superior vena cava.
the tricuspid valve. Growth is relatively poor. Infants with
obstruction present with cyanosis, marked tachypnea and
dyspnea, and signs of right-sided heart failure including hepa-
tomegaly. The obstruction results in little, if any, increase in
right ventricular volume, so there may be no murmur or changes
in S2.
Imaging Studies
For infants without obstruction, the ECG is consistent with
right ventricular volume overload. Cardiomegaly with increased
pulmonary blood flow is seen on chest x-ray. Infants with
obstructed veins have right axis deviation and right ventricular
hypertrophy on ECG. On chest x-ray, the heart is normal or
mildly enlarged with varying degrees of pulmonary edema
that can appear similar to hyaline membrane disease or
pneumonia. Echocardiography shows the volume-overloaded
right side of the heart, right-to-left atrial level shunting, and
common pulmonary vein site of drainage and degree of
obstruction.
Treatment
At surgery, the common pulmonary vein is opened into the
left atrium, and there is ligation of any vein or channel that
had been draining the common vein.
HYPOPLASTIC LEFT HEART SYNDROME
Etiology and Epidemiology
Hypoplastic left heart syndrome accounts for 1% of all congenital
heart defects (Fig. 144.6) but is the most common cause of
death from cardiac defects in the first month of life. Hypoplastic
left heart syndrome occurs when there is failure of development
of the mitral or aortic valve or the aortic arch. A small left
ventricle that is unable to support normal systemic circulation
is a central finding, regardless of etiology. Associated degrees
of hypoplasia of the ascending aorta and aortic arch are present.
Left-to-right shunting occurs at the atrial level.
AO
PDA
PA
LA
RA
LV
RV
FIGURE 144.6  Hypoplastic left side of the heart. AO, Aorta; LA,
left atrium; LV, left ventricle; PA, pulmonary artery; PDA, patent ductus
arteriosus; RA, right atrium; RV, right ventricle.
 CHAPTER 145  Heart Failure 553

TABLE 144.2  Extracardiac Complications of Cyanotic Congenital Heart Disease

PROBLEM ETIOLOGY THERAPY

Polycythemia Persistent hypoxia Phlebotomy
Relative anemia Nutritional deficiency Iron replacement
CNS abscess Right-to-left shunting Antibiotics, drainage
CNS thromboembolic stroke Right-to-left shunting or polycythemia Phlebotomy
Gingival disease Polycythemia, gingivitis, bleeding Dental hygiene
Gout Polycythemia, diuretic agents Allopurinol
Arthritis, clubbing Hypoxic arthropathy None
Pregnancy Poor placental perfusion, poor ability to increase cardiac output Bed rest
Infectious disease Associated asplenia, DiGeorge syndrome Antibiotics
Fatal RSV pneumonia with pulmonary hypertension Ribavirin, RSV immune globulin
Growth Failure to thrive, increased oxygen consumption, decreased Treat heart failure; correct defect early
nutrient intake
Psychosocial adjustment Limited activity, peer pressure; chronic disease, multiple Counseling
hospitalizations, cardiac surgical techniques
CNS, Central nervous system; RSV, respiratory syncytial virus.

Clinical Manifestations CHAPTER145 

The newborn is dependent on right-to-left shunting at the
ductus arteriosus for systemic blood flow. As the ductus
arteriosus constricts, the infant becomes critically ill with signs
and symptoms of heart failure from excessive pulmonary blood
flow and obstruction of systemic blood flow. Pulses are diffusely
weak or absent. S2 is single and loud. There is usually no heart
murmur. Cyanosis may be minimal, but low cardiac output
gives a grayish color to the cool, mottled skin.
Imaging Studies
ECG findings include right ventricular hypertrophy with
decreased left ventricular forces. The chest x-ray reveals
cardiomegaly (with right-sided enlargement) and pulmonary
venous congestion or pulmonary edema. Echocardiography
shows the small left side of the heart, the degree of stenosis of
the aortic and mitral valves, the hypoplastic ascending aorta,
and the adequacy of left-to-right atrial flow and right-to-left
ductal flow.
Treatment
Medical management includes prostaglandin E1 to open the
ductus arteriosus, correction of acidosis, and ventilatory and
blood pressure support as needed. Surgical repair is staged
with the first surgery (Norwood or Sano procedure) done during
the newborn period. Subsequent procedures create a systemic
source for the pulmonary circulation (bidirectional Glenn and
Fontan procedures), leaving the right ventricle to supply systemic
circulation. There have been many modifications to all three
stages of the repair. Prognosis for survival has improved sig-
nificantly over the past two decades.
COMPLICATIONS OF CONGENITAL
HEART DISEASE
Extracardiac complications are summarized in Table 144.2.
Heart Failure
ETIOLOGY AND EPIDEMIOLOGY
The force generated by the cardiac muscle fiber depends on
its contractile status and basal length, which is equivalent
to the preload. As the preload (fiber length, left ventricular
filling pressure, or volume) increases, myocardial performance
(stroke volume and wall tension) increases up to a point (the
normal Starling curve). The relationship is the ventricular
function curve (Fig. 145.1). Alterations in the contractile
state of the muscle lower the relative position of the curve
but retain the relationship of fiber length to muscle work.
The cardiac output equals stroke volume times the heart rate;
thus heart rate is another important determinant of cardiac
work. Additional factors also affect cardiac performance
(Table 145.1).
Heart failure occurs when the heart is unable to pump
blood at a rate commensurate with metabolic needs (in-
adequate oxygen delivery). It may be due to a change in
myocardial contractility that results in low cardiac output
or to abnormal loading conditions being placed on the
myocardium. The abnormal loading conditions may be
afterload (pressure overload, such as with aortic stenosis,
pulmonary stenosis, or coarctation of the aorta) or preload
(volume overload, such as in ventricular septal defect [VSD],
patent ductus arteriosus (PDA), or valvular insufficiency).
Volume overload is the most common cause of heart failure in
children.
The age of presentation is helpful in creating the differential
diagnosis (Table 145.2). In the first weeks of life, excessive
afterload being placed on the myocardium is most common.
Heart failure presenting around 2 months of age is usually
due to increasing left-to-right shunts that become apparent as
the pulmonary vascular resistance decreases. Acquired heart
disease, such as myocarditis and cardiomyopathy, can present
at any age.
554 SECTION 19  Cardiovascular System

Normal TABLE 145.1  Factors Affecting Cardiac Performance

B Inotropic agent
C or afterload PRELOAD (LEFT VENTRICULAR DIASTOLIC VOLUME)
Stroke volume

reduction Total blood volume

Adequate D
Inadequate Depressed Venous tone (sympathetic tone)
A contractility Body position
Intrathoracic and intrapericardial pressure
Pulmonary edema
Atrial contraction
10 20
Left ventricular end-diastolic pressure (mm Hg) Pumping action of skeletal muscle
FIGURE 145.1  Ventricular function curve illustrating the effect of AFTERLOAD (IMPEDANCE AGAINST WHICH THE LEFT
inotropic agents or arterial vasodilators. In contrast to diuretics, the VENTRICLE MUST EJECT BLOOD)
effect of digitalis or arterial vasodilator therapy in a patient with heart Peripheral vascular resistance
failure is movement onto another ventricular function curve, which is
intermediate between the normal and the depressed curves. When Left ventricular volume (preload, wall tension)
the patient’s ventricular function moves from A to B by the administration
Physical characteristics of the arterial tree (elasticity of vessels or
of one of these agents, the left ventricular end-diastolic pressure may
presence of outflow obstruction)
also decrease because of improved cardiac function; further administra-
tion of diuretics or venodilators may shift the function further to the CONTRACTILITY (CARDIAC PERFORMANCE INDEPENDENT
left along the same curve from B to C and eliminate the risk of pulmonary OF PRELOAD OR AFTERLOAD)
edema. A vasodilating agent that has arteriolar and venous dilating
properties (e.g., nitroprusside) would shift this function directly from Sympathetic nerve impulses*
A to C. If this agent shifts the function from A to D because of excessive Circulating catecholamines*
venodilation or the administration of diuretics, the cardiac output may
decrease too much, even though the left ventricular end-diastolic Digitalis, calcium, other inotropic agents*
pressure would be normal (10 mm Hg) for a normal heart. Left ventricular Increased heart rate or postextrasystolic augmentation*
end-diastolic pressures of 15-18 mm Hg are usually optimal in the
failing heart to maximize cardiac output, but to avoid pulmonary edema. Anoxia, acidosis†
(From Andreoli TE, Carpenter CCJ, Griggs RC, Loscalzo J, eds. Cecil Pharmacological depression†
Essentials of Medicine. 5th ed. Philadelphia: Saunders; 2001.)
Loss of myocardium†
Intrinsic depression†
HEART RATE
CLINICAL MANIFESTATIONS Autonomic nervous system
Temperature, metabolic rate
Decision-Making Algorithm
Available @ StudentConsult.com *Increases contractility.
†
Decreases contractility.
Edema From Andreoli TE, Carpenter CCJ, Griggs RC, Loscalzo J. Cecil Essentials of
Medicine. 5th ed. Philadelphia: Saunders; 2001.

Heart failure presents in infants as poor feeding, failure to

thrive, tachypnea, and diaphoresis with feeding. Older children
may present with shortness of breath, easy fatigability, and
edema. The physical examination findings depend on whether
pulmonary venous congestion, systemic venous congestion, or
both are present. Tachycardia, a gallop rhythm, and thready
pulses may be present with either cause. If left-sided failure is
predominant, tachypnea, orthopnea, wheezing, and pulmonary
edema are seen. Hepatomegaly, edema, and distended neck
veins are signs of right-sided failure.
IMAGING STUDIES
The absence of cardiomegaly on a chest x-ray usually rules out
the diagnosis of heart failure. An echocardiogram assesses the
heart chamber sizes, measures myocardial function, and
diagnoses congenital heart defects when present.
TREATMENT
Initial treatment is directed at improving myocardial function
and optimizing preload and afterload. Diuretics, inotropic
support, and, often, afterload reduction are employed (Table
145.3). Long-term therapy usually consists of diuretics followed
by afterload reduction. Long-term therapy with β-blockers
also may be beneficial, although this remains somewhat
controversial in pediatric patients. Spironolactone is usually
added to the medical regimen because of its effect on cardiac
remodeling.
 CHAPTER 145  Heart Failure 555

TABLE 145.2  Etiology of Heart Failure by Age Group TABLE 145.3  Treatment of Heart Failure

FETUS THERAPY MECHANISM

Severe anemia (hemolysis, fetal-maternal transfusion, hypoplastic GENERAL CARE
anemia)
Rest Reduces cardiac output
Supraventricular tachycardia
Oxygen Improves oxygenation in the presence of
Ventricular tachycardia pulmonary edema
Complete heart block Sodium, fluid Decreases vascular congestion; decreases
restrictions preload
Atrioventricular valve insufficiency
DIURETICS
High-output cardiac failure (arteriovenous malformation, teratoma)
Furosemide Salt excretion at ascending loop of Henle;
PREMATURE NEONATE reduces preload; afterload reduces with
Fluid overload control of hypertension; may also cause
venodilation
PDA
Combination of Greater sodium excretion
VSD distal tubule and
Cor pulmonale (BPD) loop diuretics

FULL-TERM NEONATE INOTROPIC AGENTS

Asphyxial cardiomyopathy Digitalis Inhibits membrane Na+, K+-ATPase and
increases intracellular Ca2+, improves
Arteriovenous malformation (vein of Galen, hepatic) cardiac contractility, increases myocardial
Left-sided obstructive lesions (coarctation of aorta, hypoplastic oxygen consumption
left heart, critical aortic stenosis) Dopamine Releases myocardial norepinephrine plus a
Transposition of great arteries direct effect on β-receptor, may increase
systemic blood pressure; at low infusion
Large mixing cardiac defects (single ventricle, truncus arteriosus) rates, dilates renal artery, facilitating
Viral myocarditis diuresis

Anemia Dobutamine β1-Receptor agent; often combined with

dopamine
Supraventricular tachycardia
Milrinone Phosphodiesterase 3 inhibitor with positive
Complete heart block inotropic properties and decreases vascular
resistance/afterload
INFANT/TODDLER
AFTERLOAD REDUCTION
Left-to-right cardiac shunts (VSD)
Hydralazine Arteriolar vasodilator
Hemangioma (arteriovenous malformation)
Nitroprusside Arterial and venous relaxation; venodilation
Anomalous left coronary artery
reduces preload
Metabolic cardiomyopathy
Captopril/enalapril Inhibition of angiotensin-converting
Acute hypertension (hemolytic uremic syndrome) enzyme; reduces angiotensin II production
Supraventricular tachycardia OTHER MEASURES
Kawasaki disease Mechanical Improves coronary flow, afterload
counterpulsation
Postoperative repair of congenital heart disease
Transplantation Removes diseased heart
CHILD/ADOLESCENT
Extracorporeal Bypasses heart
Rheumatic fever
membrane
Acute hypertension (glomerulonephritis) oxygenation
Viral myocarditis Carvedilol β-Blocking agent
Thyrotoxicosis
Hemochromatosis/hemosiderosis
Cancer therapy (radiation, doxorubicin)
Sickle cell anemia
Endocarditis
Cor pulmonale (cystic fibrosis)
Arrhythmias
Chronic upper airway obstruction (cor pulmonale)
Unrepaired or palliated congenital heart disease
Cardiomyopathy

BPD, Bronchopulmonary dysplasia; PDA, patent ductus arteriosus; VSD, ventricular

septal defect.
556 SECTION 19  Cardiovascular System

streptococcal infection, confirm a diagnosis of acute rheumatic

146 
CHAPTER fever. The infection often precedes the presentation of rheumatic
fever by 2-6 weeks. Streptococcal antibody tests, such as the
Rheumatic Fever antistreptolysin O titer, are the most reliable laboratory evidence
of prior infection.
ETIOLOGY AND EPIDEMIOLOGY Arthritis is the most common major manifestation. It
Although uncommon in the United States, acute rheumatic usually involves the large joints and is migratory. Arthralgia
fever remains an important preventable cause of cardiac disease. cannot be used as a minor manifestation if arthritis is used
It is most common in children 6-15 years of age. It is due to as a major manifestation. Carditis occurs in about 50%
an immunological reaction that is a delayed sequela of group of patients. Tachycardia, a new murmur (mitral or aortic
A beta-hemolytic streptococcal infections of the pharynx. A regurgitation), pericarditis, cardiomegaly, and signs of heart
family history of rheumatic fever and lower socioeconomic failure are evidence of carditis. Erythema marginatum, a
status are additional factors. serpiginous, nonpruritic, and evanescent rash, is uncom-
mon, occurs on the trunk, and is brought out by warmth.
Subcutaneous nodules are seen predominantly with chronic
CLINICAL MANIFESTATIONS or recurrent disease. They are firm, painless, nonpruritic, mobile
nodules found on the extensor surfaces of the large and small
Decision-Making Algorithms joints, the scalp, and the spine. Chorea (Sydenham chorea
Available @ StudentConsult.com or St. Vitus dance) consists of neurological and psychiatric
Heart Murmurs signs. It also is uncommon and often presents long after the
Arthritis infection.
Involuntary Movements
Fever and Rash TREATMENT AND PREVENTION
Management of acute rheumatic fever consists of benzathine
Acute rheumatic fever is diagnosed using the clinical and penicillin to eradicate the beta-hemolytic streptococcus,
laboratory findings of the revised Jones criteria (Table 146.1). antiinflammatory therapy with salicylates, and bed rest.
The presence of either two major criteria or one major and Additional supportive therapy for heart failure or chorea may
two minor criteria, along with evidence of an antecedent be necessary. Long-term penicillin prophylaxis, preferably
with intramuscular benzathine penicillin G, 1.2 million U every
28 days, is required. Oral regimens for prophylaxis generally
TABLE 146.1  Major Jones Criteria for Diagnosis of Acute are not as effective. The prognosis of acute rheumatic fever
Rheumatic Fever*,† depends on the degree of permanent cardiac damage. Cardiac
involvement may resolve completely, especially if it is the first
SIGN COMMENTS
episode and the prophylactic regimen is followed. The severity
Polyarthritis Common; swelling, limited motion, tender, of cardiac involvement worsens with each recurrence of
erythema
rheumatic fever.
Migratory; involves large joints but rarely
small or unusual joints, such as vertebrae
Carditis Common; pancarditis, valves, pericardium,
myocardium
Tachycardia greater than explained by fever;
new murmur of mitral or aortic insufficiency;
Carey-Coombs mid-diastolic murmur; heart
CHAPTER147 
Chorea (Sydenham
failure
Uncommon; manifests long after infection
Cardiomyopathies
disease) has resolved; more common in females;
antineuronal antibody positive ETIOLOGY
Erythema Uncommon; pink macules on trunk and A cardiomyopathy is an intrinsic disease of the heart muscle
marginatum proximal extremities, evolving to and is not associated with other forms of heart disease (Table
serpiginous border with central clearing; 147.1). There are three types of cardiomyopathy based on
evanescent, elicited by application of local anatomical and functional features:
heat; nonpruritic
1. Dilated
Subcutaneous Uncommon; associated with repeated 2. Hypertrophic
nodules episodes and severe carditis; located over 3. Restrictive
extensor surface of elbows, knees, knuckles,
and ankles, or scalp and spine; firm, Dilated cardiomyopathies are the most common. They are
nontender often idiopathic, but they may be due to infection (echovirus
or Coxsackie B virus) or be postinfectious, familial, or second-
*Minor criteria include fever (temperatures of 101-102°F [38.2-38.9°C]), arthralgias,
previous rheumatic fever, leukocytosis, elevated erythrocyte sedimentation ary to systemic disease or to cardiotoxic drugs. Hypertrophic
rate/C-reactive protein, and prolonged PR interval. cardiomyopathies are usually familial with autosomal dominant
inheritance but may occur sporadically. Restrictive cardiomy-
†
One major and two minor, or two major, criteria with evidence of recent group
A streptococcal disease (e.g., scarlet fever, positive throat culture, or elevated
antistreptolysin O or other antistreptococcal antibodies) strongly suggest the opathies are rare; they may be idiopathic or associated with
diagnosis of acute rheumatic fever. systemic disease (Table 147.2).
 CHAPTER 147  Cardiomyopathies 557

TABLE 147.1  Etiology of Myocardial Disease

FAMILIAL/HEREDITARY CONNECTIVE TISSUE/GRANULOMATOUS DISEASE

Duchenne muscular dystrophy Systemic lupus erythematosus
Other muscular dystrophies (Becker, limb-girdle) Scleroderma
Myotonic dystrophy Amyloidosis
Kearns-Sayre syndrome (progressive external ophthalmoplegia) Rheumatic fever
Carnitine deficiency syndromes Sarcoidosis
Endocardial fibroelastosis Dermatomyositis
Mitochondrial myopathy syndromes DRUGS/TOXINS
Familial dilated cardiomyopathy (dominant, recessive, X-linked) Doxorubicin (Adriamycin)
Familial hypertrophic cardiomyopathy Ipecac
Familial restrictive cardiomyopathy Iron overload (hemosiderosis)
Pompe disease (glycogen storage) Irradiation
INFECTIOUS (MYOCARDITIS) Cocaine
Viral (e.g., coxsackievirus infection, mumps, Epstein-Barr virus Amphetamines
infection, influenza, parainfluenza infection, measles, varicella, HIV
infection) CORONARY ARTERIES

Bacterial (e.g., diphtheria, Mycoplasma infection, meningococcal Anomalous left coronary artery
disease, leptospirosis, Lyme disease, psittacosis, Coxiella Kawasaki disease
infection, Rocky Mountain spotted fever)
OTHER DISORDERS/CONDITIONS
Parasitic (e.g., Chagas disease, toxoplasmosis)
Idiopathic
METABOLIC/NUTRITIONAL/ENDOCRINE
Sickle cell anemia
Hypothyroidism
Endomyocardial fibrosis
Hyperthyroidism
Right ventricular dysplasia
Pheochromocytoma
Mitochondrial myopathies and oxidative respiratory chain defects
Type II, X-linked 3-methylglutaconic aciduria
HIV, Human immunodeficiency virus.

TABLE 147.2  Anatomical and Functional Features of Cardiomyopathies

FEATURE DILATED HYPERTROPHIC RESTRICTIVE

Etiology Infectious Sporadic Infiltrative (amyloidosis, sarcoidosis)
Metabolic Inherited (autosomal dominant) Noninfiltrative (idiopathic, familial)
Toxic Storage disease (hemochromatosis, Fabry disease)
Idiopathic Endomyocardial disease
Hemodynamics Decreased systolic function Diastolic dysfunction (impaired Diastolic dysfunction (impaired ventricular filling)
ventricular filling)
Treatment Positive inotropes β-Blockers Diuretics
Diuretics Calcium channel blockers Anticoagulants
Afterload reduction Cardiac transplantation
β-Blockers
Antiarrhythmics
Anticoagulants
Cardiac transplantation
558 SECTION 19  Cardiovascular System
CLINICAL MANIFESTATIONS
Decision-Making Algorithms
Available @ StudentConsult.com
Chest Pain
Palpitations
Edema
Dilated cardiomyopathies result in enlargement of the left
ventricle only or of both ventricles. Myocardial contractility is
variably decreased. Children with dilated cardiomyopathy
present with signs and symptoms of inadequate cardiac output
and heart failure. Tachypnea and tachycardia are present on
examination. Peripheral pulses are often weak because of a
narrow pulse pressure. Rales may be audible on auscultation.
The heart sounds may be muffled, and an S3 is often present.
Concurrent infectious illness may result in circulatory collapse
and shock in children with dilated cardiomyopathies.
Hypertrophic cardiomyopathy is initially difficult to diagnose.
Infants, but not older children, frequently present with signs
of heart failure. Sudden death may be the initial presentation
in older children. Dyspnea, fatigue, chest pain, syncope or
near-syncope, and palpitations may be present. A murmur is
heard in more than 50% of children referred after identification
of an affected family member. Restrictive cardiomyopathies
are relatively rare in pediatrics. Presenting symptoms usually
include dyspnea exacerbated by a respiratory illness, syncope,
hepatomegaly, and an S4 heart sound on examination.
IMAGING STUDIES
Decision-Making Algorithm
Available @ StudentConsult.com
Edema
Cardiomegaly usually is seen on chest radiographs for all three
types of cardiomyopathies. The electrocardiogram (ECG) in
dilated cardiomyopathy may have nonspecific ST-T wave changes
and left ventricular hypertrophy. ECG evidence of right ven-
tricular hypertrophy is present in 25% of children with car-
diomyopathy. The ECG with hypertrophic cardiomyopathy is
universally abnormal, but changes are nonspecific. Primary
hypertrophic cardiomyopathy is associated with a prolonged
QT interval. Children with restrictive cardiomyopathies may
show atrial enlargement on the ECG. Echocardiography features
vary by type of cardiomyopathy. Dilated cardiomyopathies result
in left atrial and ventricular dilation, a decreased shortening
fraction, and globally depressed contractility. Asymmetric septal
hypertrophy and left ventricular outflow tract obstruction are
seen in hypertrophic cardiomyopathies. Massive atrial dilation
is seen in restrictive cardiomyopathies. Endomyocardial biopsy
specimens, obtained while the patient is hemodynamically
stable, identify histological type and allow tests for mitochondrial
or infiltrative diseases.
TREATMENT
Supportive therapy, including diuretics, inotropic medications,
and afterload reduction, is provided for all three types of
cardiomyopathy. If a specific etiology can be identified, treatment
is directed at the etiology. Symptomatic therapy with close
monitoring and follow-up is crucial. Because of the high
mortality rate associated with all forms of cardiomyopathy,
cardiac transplantation must be considered.
CHAPTER 148 
Pericarditis
ETIOLOGY AND EPIDEMIOLOGY
Pericarditis is inflammation of the parietal and visceral surfaces
of the pericardium. It is most often viral in origin, with many
viruses identified as causative agents. A bacterial etiology is
rare but causes a much more serious and symptomatic peri-
carditis. Staphylococcus aureus and Streptococcus pneumoniae
are the most likely bacterial causes. Pericarditis is associated
with collagen vascular diseases, such as rheumatoid arthritis,
and is seen with uremia (Table 148.1). Postpericardiotomy
syndrome is a relatively common form of pericarditis that
follows heart surgery.
CLINICAL MANIFESTATIONS
Decision-Making Algorithm
Available @ StudentConsult.com
Chest Pain
The symptoms of pericarditis (Table 148.2) depend on the
amount of fluid in the pericardial space and how fast it accu-
mulates. A small effusion usually is well tolerated. A large
effusion may be well tolerated if it accumulates slowly. The
faster the fluid accumulates, the sooner the patient is hemo-
dynamically compromised and develops symptoms.
IMAGING AND LABORATORY STUDIES
Echocardiography is the most specific and useful diagnostic
test for detection of pericardial effusions. A chest x-ray may
reveal cardiomegaly. A large effusion creates a rounded, globular
cardiac silhouette. The electrocardiogram (ECG) may show
tachycardia, elevated ST segments, reduced QRS voltage, or
electrical alternans (variable QRS amplitude). The causative
organism may be identified through viral titers, antistreptolysin
O (ASO) titers, or diagnostic testing of the pericardial fluid.
TREATMENT
Pericardiocentesis is indicated for the treatment of hemody-
namically significant effusions and to determine the etiology
of the pericarditis. Additional treatment is directed at the specific
etiology. There is no specific treatment for viral pericarditis
other than antiinflammatory medications.
 CHAPTER 148  Pericarditis 559

TABLE 148.1  Etiology of Pericarditis and Pericardial Effusion

IDIOPATHIC (PRESUMED VIRAL) INFECTIOUS AGENTS Sarcoidosis

Bacterial Vasculitis
Group A streptococci TRAUMATIC
Staphylococcus aureus Cardiac contusion (blunt trauma)
Pneumococcus, meningococcus* Penetrating trauma
Haemophilus influenzae* Postpericardiotomy syndrome
Mycobacterium tuberculosis Radiation
Viral† CONTIGUOUS SPREAD
Coxsackievirus (group A, B) Pleural disease
Echovirus Pneumonia
Mumps Aortic aneurysm (dissecting)
Influenza METABOLIC
Epstein-Barr Hypothyroidism
Cytomegalovirus Uremia
Fungal Chylopericardium
Histoplasma capsulatum NEOPLASTIC
Coccidioides immitis Primary
Blastomyces dermatitidis Contiguous (lymphoma)
Candida Metastatic
COLLAGEN VASCULAR-INFLAMMATORY AND Infiltrative (leukemia)
GRANULOMATOUS DISEASES
OTHER ETIOLOGICAL DISORDERS/FACTORS
Rheumatic fever
Drug reaction
Systemic lupus erythematosus (idiopathic and drug-induced)
Pancreatitis
Rheumatoid arthritis
After myocardial infarction
Kawasaki disease
Thalassemia
Scleroderma
Central venous catheter perforation
Mixed connective tissue disease
Heart failure
Inflammatory bowel disease
Hemorrhage (coagulopathy)

*Infectious or immune complex.

†
Common (viral pericarditis or myopericarditis is probably the most common cause of acute pericarditis in a previously normal host).
From Sigman G. Chest pain. In: Kliegman RM, Greenbaum LA, Lye PS, eds. Practical Strategies in Pediatric Diagnosis and Therapy. 2nd ed. Philadelphia: Saunders;,
2004. Tab 9-9.

TABLE 148.2  Manifestations of Pericarditis

SYMPTOMS Hepatomegaly
Chest pain (worsened if lying down or with inspiration) Pulsus paradoxus (>10 mm Hg with inspiration)
Dyspnea Narrow pulse pressure
Malaise Weak pulse, poor peripheral perfusion
Patient assumes sitting position Constrictive
SIGNS Distended neck veins
Nonconstrictive Kussmaul sign (inspiratory increase in jugular venous pressure)
Fever Distant heart sounds
Tachycardia Pericardial knock
Friction rub (accentuated by inspiration, body position) Hepatomegaly
Enlarged heart by percussion and x-ray examination Ascites
Distant heart sounds Edema
Tamponade Tachycardia
As above, plus:
Distended neck veins
560 SECTION 19  Cardiovascular System
Suggested Readings
Allen HD, Shaddy RE, Penny DJ, et al. Heart Disease in Infants, Children,
and Adolescent. 9th ed. Philadelphia: Lippincott Williams & Wilkins;
2016.
Eidem BW, Cetta F, O’Leary PW. Echocardiography in Pediatric and Adult
Congenital Heart Disease. Philadelphia: Lippincott Williams & Wilkins;
2010.
PEARLS FOR PRACTITIONERS
CHAPTER 139
Cardiovascular System Assessment
• Rate of growth is one of the most valuable and objective
signs of cardiovascular health.
• In infants with heart failure, weight gain is more signifi-
cantly affected than height and head circumference.
• Cardiovascular vital signs vary with age, and one needs to
know or have a resource for “normal” for all age groups to
be able to recognize/diagnose abnormal.
• Blood pressure should be routinely taken in the right arm
and, if elevated, then taken in all four extremities.
• The presence of a normal right arm blood pressure and
normal pedal pulses effectively rules out coarctation of
the aorta.
• Peripheral cyanosis (hands, feet, perioral), also known as
acrocyanosis, is common in infants and needs to be differenti-
ated from central cyanosis (tongue, lips).
• Murmurs are the noises made by turbulent blood flow and
are very common in pediatric patients.
• The timing of the murmur is most important in determin-
ing the significance of the murmur and developing a
differential diagnosis.
• Diastolic murmurs, holosystolic murmurs, continuous
murmurs (with the exception of the venous hum),
and murmurs with a palpable thrill are abnormal
murmurs.
• To be a normal (innocent) murmur, the cardiovascular
history and remainder of the cardiovascular exam must
be normal.
• A normal heart size on chest radiograph virtually rules out
heart failure; however, a large heart is not diagnostic of heart
failure.
CHAPTER 140
Syncope
• Syncope is the transient loss of consciousness and muscle
tone and is typically associated with an upright position,
prodromal symptoms, pale appearance, and brief loss of con-
sciousness with rapid return to normal state of consciousness.
• Syncope occurring during exercise or with associated
cardiac symptoms should be considered atypical until
more extensively evaluated.
Kliegman RM, Stanton BMD, St. Geme J, et al, eds. Nelson Textbook of
Pediatrics. 20th ed. Philadelphia: Saunders; 2015.
Park M. Pediatric Cardiology for Practitioners. 6th ed. Elsevier Health
Sciences; 2014.
Shaddy RE. Heart Failure in Congenital Heart Disease. London: Springer;
2014.
CHAPTER 141
Chest Pain
• Chest pain is common in Pediatrics but is rarely cardiac in
origin. Up to one third of all Pediatric chest pain is idiopathic,
with musculoskeletal chest pain being the most common
cause of diagnosable chest pain.
CHAPTER 142
Dysrhythmias
• The most common symptomatic dysrhythmia in Pediatrics
is supraventricular tachycardia.
• Sinus arrhythmia is common in children and represents a
normal variation in heart rate with respiration.
CHAPTER 143
Acyanotic Congenital Heart Disease
• Congenital heart defects occur in about 1% of births and
includes a wide spectrum of defects from asymptomatic to
fatal lesions.
• Ventricular septal defect (VSD) is the most common con-
genital heart defect.
• The amount of shunting at a VSD depends on the size
of the defect and the pulmonary vascular resistance.
• Large shunts are the result of excessive pulmonary blood
flow (congestive heart failure), typically presenting with
tachypnea, fatigue, and diaphoresis with feeding and poor
weight gain.
• Atrial septal defects (ASDs) rarely cause symptoms in
childhood.
• The amount of shunting at an ASD depends on the size
of the defect and the relative compliance of the
ventricles.
• In addition to a systolic ejection murmur from increased
flow across the pulmonary valve, a widely split second
heart sound that does not vary with respiration is the
classic exam finding associated with an ASD.
• A patent ductus arteriosus (PDA) results in volume overload
of the left heart and shunting, which is dependent on the
size of the PDA and the pulmonary vascular resistance.

• The most common congenital heart defect in children with
Trisomy 21 is the endocardial cushion defect, which is also
called atrioventricular canal defect or atrioventricular septal
defect.
• Symptoms and management of pulmonary stenosis and
aortic stenosis depend on the severity of the stenosis.
• Pulmonary valve stenosis is rarely progressive; aortic valve
stenosis is usually progressive.
• Coarctation of the aorta usually occurs in the juxtaductal
region.
• Symptoms and presentation depend on the severity of
the obstruction and associated congenital heart defects.
CHAPTER 144
Cyanotic Congenital Heart Disease
• Clinical cyanosis occurs when >5 g/100 mL of reduced
hemoglobin is present in the systemic blood.
• The most common cyanotic congenital heart defects are the
five Ts: Tetralogy of Fallot, Transposition of the great arteries,
Tricuspid atresia, Truncus arteriosus, and Total anomalous
pulmonary venous return.
• Tetralogy of Fallot is the most common cyanotic congenital
heart defect. The degree of cyanosis and the murmur depend
on the amount of pulmonary stenosis.
• Transposition of the great arteries is the most common
cyanotic lesion to present in the newborn period.
• Congenital heart defects with a functionally single ventricle,
such as tricuspid atresia and hypoplastic left heart syndrome
(HLHS) require a staged surgical repair.
• Survival of patients with HLHS—the most common cause
of death from a cardiac defect in the first month of
life—has improved dramatically with staged surgical and
aggressive medical management.
CHAPTER 145
Heart Failure
• The most common cause, as well as the clinical manifestations
of congestive heart failure, vary with age of presentation.
CHAPTER 148  Pericarditis 561
• Diseases/issues that impact preload, afterload, and contractil-
ity can all result in worsening cardiac performance and heart
failure.
• Treatment of heart failure often includes diuresis, inotropic
support, and afterload reduction.
CHAPTER 146
Rheumatic Fever
• Rheumatic fever remains an important, preventable cause
of cardiac disease worldwide. Diagnosis of Rheumatic Fever
is made using the clinical and laboratory findings of the
revised Jones criteria.
CHAPTER 147
Cardiomyopathies
• There are three types of cardiomyopathy: (1) dilated (most
common); (2) hypertrophic; and (3) restrictive.
• Supportive therapy, including diuretics, inotropic medications,
and afterload reduction, are used in all three types.
• Cardiac transplantation must be considered due to the high
mortality rate seen in all forms of cardiomyopathy.
CHAPTER 148
Pericarditis
• Pericarditis is inflammation of the parietal and visceral
surfaces of the pericardium and is most often viral in origin.
• The severity of symptoms depends on the amount of
fluid present in the pericardial space and the rapidity
with which the fluid accumulated.