Congenital Heart

Disease
Katherine Dolbec,

MD

a,

*, Nathan W. Mick,

MD

KEYWORDS
 Pediatric  Congenital heart disease
 Echocardiography  Cardiology

Congenital heart disease is estimated to affect up to 1% of live births, although the

spectrum of disease severity varies greatly.1 Severe lesions, such as hypoplastic
left heart syndrome or truncus arteriosus, are relatively rare compared with atrial or
ventricular septal defects and some lesions, such as a small patent ductus arteriosus,
may resolve spontaneously.2 Despite advances in diagnosis and surgical care,
congenital cardiac malformations remain one of the leading cause of death in infants.3
The incidence of specific congenital heart disease lesions is reflected in Table 1. Most
congenital heart disease is diagnosed in utero by ultrasound during routine prenatal
care. However, some lesions may escape detection and not manifest until after birth
(Table 2), and these are the ones that are most likely to present to the emergency
department. A significant proportion of lesions is dependent on mixing of oxygenated
and deoxygenated blood and relies on a patent ductus arteriosus for communication
between the systemic and pulmonic circulations. Thus, a child with congenital heart
disease may present with severe cyanosis or shock at 1 to 2 weeks of age as the ductus arteriosus closes, making an understanding of these lesions crucial for any clinician who treats children in the neonatal period. Some nonobstructive lesions (ie,
ventricular septal defects and patent ductus arteriosus) present later in the newborn
period with congestive heart failure (CHF). The cardinal presentations of cyanosis,
shock, and CHF can mimic those of pulmonary disease or sepsis; thus, the emergency
physician must establish a broad differential and consider congenital heart disease
when treating a critically ill neonate. Along with structural abnormalities, congenital
rhythm disturbances, such as supraventricular tachycardia, congenital complete heart
block, and long QTc syndrome, can also present during the newborn period with signs
and symptoms that suggest other, more common conditions.

The authors have nothing to disclose.

a
Department of Emergency Medicine, Maine Medical Center, 22 Bramhall Street, Portland,
ME 04102, USA
b
Pediatric Emergency Medicine, Department of Emergency Medicine, Maine Medical Center,
22 Bramhall Street, Portland, ME 04102, USA
* Corresponding author.
E-mail address: [email protected]
Emerg Med Clin N Am 29 (2011) 811827
doi:10.1016/j.emc.2011.08.005
0733-8627/11/$ see front matter 2011 Elsevier Inc. All rights reserved.

emed.theclinics.com

812

Dolbec & Mick

Table 1
Incidence of specific congenital heart defects
Estimated Percentage of
Congenital Heart Disease

Lesion
Ventricular septal defect

20%

Tetralogy of Fallot

10%

Atrial septal defect

5%

Tricuspid atresia

1%

Pulmonary stenosis

1%

Transposition of the great vessels

5%

Ebstein anomaly

1%

Coarctation of the aorta

10%

Critical aortic stenosis

5%

Interrupted aortic arch

1%

Hypoplastic left heart syndrome

1%

Patent ductus arteriosus

10%

ANATOMY AND PATHOPHYSIOLOGY

Circulation in the fetus is designed to transport oxygen-rich blood from the placenta to
the systemic circulation. To accomplish this feat, the fetal lungs must be bypassed
and blood shunted from the right side of the heart to the left. After leaving the placenta,
oxygen-rich blood bypasses the liver through the ductus venosus and is returned to
the right atrium. Most of this oxygenated blood then travels from the right atrium to
the left atrium through the foramen ovale and is then pumped to the systemic circulation by the left ventricle. A small amount of blood enters the high-resistance pulmonary
circuit and then is shunted right to left across the ductus arteriousus, from the pulmonary artery to the aortic arch.
At birth, the lungs fill with air, and the pulmonary vascular resistance drops dramatically. This leads to a complex series of changes that results in the normal circulatory
pattern seen in adults. As the pulmonary vascular resistance falls, more blood enters

Table 2
Time of presentation of specific congenital heart defects
Lesion

Time of Presentation

Ventricular septal defect

After 4 weeks

Tetralogy of Fallot

Birth to 12 weeks

Tricuspid atresia

Birth to 2 weeks

Pulmonary stenosis/atresia

Birth to 2 weeks

Transposition of the great vessels

Birth to 2 weeks

Ebstein anomaly

Birth to 2 weeks

Coarctation of the aorta

12 weeks for critical lesions, later if less severe

Aortic stenosis

12 weeks for critical lesions, later if less severe

Interrupted aortic arch

Birth to 2 weeks

Hypoplastic left heart syndrome

Birth to 2 weeks

Patent ductus arteriosus

After 4 weeks

Congenital Heart Disease

the pulmonary circuit and oxygenated blood is delivered in larger quantities to the left
atrium. This leads to a reversal of pressure forces and functional closure of the
foramen ovale. During this time of transition, systemic vascular resistance rises and
results in a reversal of shunting through the ductus. The blood flowing left to right
across the ductus arteriosus is now highly oxygenated and this results in closure of
this pathway within the first 2 weeks of life. The increased workload on the left ventricle
results in an increased left ventricular mass while the right ventricle mass decreases.
Normal fetal circulatory anatomy is depicted in Fig. 1. The development of the heart is
a complex embryologic process involving an organized series of molecular and
morphogenetic events. Any genetic, molecular, or cellular error in this process can
result in gross structural abnormalities of the heart, heart valves, blood vessels, or
conduction system with functional significance.4 There are many risk factors for the
development of congenital heart disease. Family history plays a role; 1% to 4% of
babies born to parents with congenital heart disease are affected.5 Maternal diabetes
is associated with up to a 30% chance of structural heart disease in the newborn,
particularly hypertrophic cardiomyopathy, ventricular septal defect, or transposition
of the great vessels (TOGV).6 Maternal alcohol or drug use (ie, lithium use and associated Ebstein anomaly) also increases the risk of heart defects (Table 3).

Fig. 1. Normal fetal circulatory anatomy. Ao, aorta; LA, left atrium; LV, left ventricle; PA,
pulmonary artery; RA, right atrium; RV, right ventricle. (From Mick N. Pediatric cardiac disorders. In: Adams JG, Barton ED, Collings J, et al, editors. Emergency medicine. 1st edition.
Philadelphia: Saunders Elsevier; 2008. p. 618; with permission.)

813

814

Dolbec & Mick

Table 3
Congenital heart disease risk factors
Risk Factor

Lesions Associated

Maternal diabetes

Ventricular septal defect, transposition of the great vessels,

hypertrophic cardiomyopathy

Maternal lithium use

Ebstein anomaly

Maternal phenytoin use

Aortic stenosis, pulmonic stenosis

Maternal alcohol use

Ventricular septal defect, atrial septal defect

DIAGNOSIS AND STABILIZATION OF SUSPECTED CONGENITAL HEART DISEASE

Neonates presenting to the emergency department with undiagnosed congenital

heart disease, whether it be structural or arrhythmogenic, typically exhibit signs of
shock, cyanosis, CHF, or a combination of the three and typically present at 2 weeks
of age as the ductus arteriosus closes. Those with left-sided obstructive lesions
present with inadequate systemic perfusion and shock, whereas those with rightsided lesions present with cyanosis because of inadequate blood reaching the lungs.
The differential diagnosis of shock in a neonate is broad with infectious etiologies
being far and away the most common (Table 4). A blood pressure differential between
the preductal right arm and the postductal left arm may suggest a ductal-dependent
left-sided obstructive lesion, such as critical coarctation of the aorta or congenital
aortic stenosis.
Cyanosis is caused by the presence of deoxygenated blood at the level of the capillaries. Detection of cyanosis requires a systemic oxygen saturation of 80% to 85%,
depending on the patients hemoglobin level. Transient peripheral cyanosis (acrocyanosis) can occur in children with normal cardiac anatomy and function as a result of
benign conditions, such as cold exposure, and more serious noncardiac conditions,
such as sepsis. Central cyanosis, involving the mucous membranes, the lips, or the
trunk, is always pathologic and should raise red flags. In children with cyanotic
congenital heart disease, cyanosis can occur if blood flow to the lungs is insufficient
or if a large percentage of the deoxygenated blood is pumped to the systemic circulation and a large percentage of the oxygenated blood is pumped back to the lungs.7

Table 4
Differential diagnosis of shock in the neonate
Type of Shock

Etiology

Hypovolemia

Dehydration
Blood loss

Cardiogenic

Coarctation of the aorta

Aortic stenosis
Interrupted aortic arch
Hypoplastic left heart syndrome
Congenital arrythmias
Myocarditis
Tension pneumothorax
Tamponade

Distributive

Sepsis
Anaphylaxis

Congenital Heart Disease

Pulmonary causes of cyanosis typically improve with supplemental oxygen administration or agitation, whereas cardiac cyanosis does not improve with oxygen and
generally worsens with activity or crying.8 Neonates who present with cyanosis generally have ductal-dependent right-sided obstructive lesions and are intolerant of the
transition to postnatal circulation.
CHF occurs with structural heart disease and congenital rhythm abnormalities. Typically, the infant presents with respiratory distress, tachypnea, and rales on pulmonary
examination, although more subtle signs, such as poor feeding and sweating with
feeds, may be the only clue to the diagnosis. Unlike adults with CHF, peripheral edema
is rare in children. Physical examination findings suggestive of heart failure include
signs of respiratory distress with grunting, flaring, and pulmonary rales. Hepatomegaly
is also a common sign caused by engorgement of the hepatic vasculature, and examination of the liver edge should be a standard part of the examination in any child presenting in the first month of life with respiratory distress. Heart failure can be caused by
volume overload of the right ventricle as is seen in total anomalous pulmonary venous
return (TAPVR) with a large ventricular septal defect or lesions with large left-to-right
shunts, such as critical aortic stenosis or coarctation of the aorta as blood preferentially flows into the low resistance pulmonary circuit. Congenital rhythm disturbances,
particularly supraventricular tachycardia, can also lead to CHF because of poor
cardiac output. For the emergency physician, initial management should be focused
on the stabilization of these cardinal presentations.
STABILIZING DUCTAL-DEPENDENT LEFT-SIDED OBSTRUCTIVE LESIONS PRESENTING
AS SHOCK

Ductal-dependent left-sided obstructive lesions include coarctation of the aorta, critical aortic stenosis, interrupted aortic arch, and hypoplastic left heart syndrome.
These lesions are similar in that blood flow to the systemic circulation is contingent
on the patency of the ductus arteriosus (Fig. 2). Many of these lesions are detected
in utero by the 20-week anatomic ultrasound during the prenatal period. If undetected,
they become apparent during the first 2 weeks of life when the ductus arteriosus
closes and these infants typically present with profound shock and without cyanosis.
The differential diagnosis of shock in the neonate is broad and includes cardiac, infectious, and metabolic causes. All neonates in shock should be treated aggressively with
intubation if necessary; fluid resuscitation (20 mL/kg of normal saline); and empiric
antibiotics and antivirals (ampicillin, gentamicin, and acyclovir). If the infant fails to

Left Lung

Right Lung

B
Left Lung

Right Lung

Left sided obstructive lesions

1.HypoplasticLeft Heart
2.Critical Aortic Stenosis
3.Coarctationof Aorta
4.Interrupted Aortic Arch

Present Primarily as SHOCK

Fig. 2. (A) Preductal closure of left-sided obstructive lesion showing systemic circulation
dependent on patent ductus arteriosus and mixing occurring at the level of the ductus.
(B) Closure of the ductus results in decrease in systemic perfusion and shock.

815

Dolbec & Mick

respond to these interventions or a cardiac cause is suspected, prostaglandin E1

should be given. Prostaglandin E1 is given as an infusion starting at 0.1 mg/kg/min
and works by preventing closure of the ductus arteriosus, which results in improved
systemic blood flow in left-sided obstructive lesions. The infusion is titrated to
palpable femoral pulses and positive results occur in minutes. The major side effect
of the infusion is apnea, which can occur in up to 10% of patients and intubation
should be considered if an infant is to be transferred to another facility.9 Once a child
has been stabilized on prostaglandins, definitive management involves consultation
with a pediatric cardiologist for echocardiography and transfer to a center capable
of repairing the lesion in question.
STABILIZING DUCTAL-DEPENDENT RIGHT-SIDED OBSTRUCTIVE LESIONS PRESENTING
AS CYANOSIS

Ductal-dependent right-sided obstructive lesions include tricuspid atresia, severe

pulmonic stenosis, tetralogy of Fallot, TOGV, Ebstein anomaly, and many others. In
right-sided obstruction, pulmonary blood flow is dependent on the combined volume
of that coming from the ductus arteriosis and that coming through the obstructed right
ventricular output. As the ductus closes, at 1 to 2 weeks of age, the infant becomes
cyanotic (Fig. 3). The differential diagnosis of cyanosis includes cardiac and pulmonary conditions, and chest radiographs and the hyperoxia test may be useful in
making the distinction. A chest radiograph is obtained looking for signs of pulmonary
disease including pneumothorax, lung collapse, or pneumonia, and to evaluate the
heart size and shape. The hyperoxia test takes advantage of the fact that supplemental oxygen does not raise the PaO2 of the blood in congenital heart disease to
the same degree as in pulmonary disease because of the presence of an intracardiac
shunt. To perform the test, have the infant breath 100% oxygen for 10 minutes and
then measure a postductal arterial blood gas. Congenital heart disease is suggested
if the PaO2 is less than 150 mm Hg during hyperoxia. Pulmonary disease is more likely if
the PaO2 is greater than 150 mm Hg during hyperoxia.
Stabilizing right-sided obstructive lesions involves the administration of a prostaglandin E1 infusion to keep the ductus arteriosus open. The dosing of prostaglandins
is identical to that used in left-sided obstruction and the infusion should be titrated to
oxygen saturations of 80% to 85%. Once the oxygen saturations have been stabilized,

Left Lung

Right Lung

B
Left Lung

A
Right Lung

816

Right sided obstructive lesions

1. Tricuspid Atresia
2. Pulmonary Stenosis/Atresia
3. Tetralogy of Fallot
4. Transposition of Great Arteries
5. Ebsteins anomaly

Present Primarily as CYANOSIS

Fig. 3. (A) Preductal closure of right-sided obstructive lesion showing pulmonary circulation
dependent on patent ductus arteriosus and mixing occurring at the level of the ductus. (B)
Closure of the ductus results in severe cyanosis because oxygenated blood from the lungs
has no way to enter the systemic circuit.

Congenital Heart Disease

pediatric cardiology consultation should be obtained and transfer to an appropriate

tertiary care center effected.
STABILIZATION OF LESIONS PRESENTING WITH CHF

Treatment of CHF in the newborn suspected of having congenital heart disease may
require intubation and positive pressure ventilation, and gentle diuresis. Because
structural heart disease and congenital rhythm abnormalities can cause CHF, electrocardiography early in the resuscitation may aid in the diagnosis. Supraventricular
tachycardia in infants is suggested by a narrow complex tachycardia with rates
greater than 220 beats per minute.
LESION-SPECIFIC PRESENTATIONS
Left-sided Obstructive Lesions
Hypoplastic left heart syndrome

Hypoplastic left heart syndrome is a spectrum of cardiac anomalies including varying

degrees of underdevelopment of the aorta, aortic valve, left ventricle, mitral valve, and
left atrium. The right ventricle is the dominant pumping chamber of the heart and
systemic blood flow relies on right-to-left shunting via the ductus arteriosus to the
aorta.
Before closure of the ductus arteriosus, patients may have subtle signs including
mild cyanosis, tachypnea, and tachycardia. When the ductus arteriosus begins to
constrict, systemic cardiac output is significantly reduced and profound CHF, cardiovascular collapse, and shock rapidly develops.
Chest radiographs may reveal cardiomegaly with pulmonary edema. Electrocardiogram is generally nonspecific but may show evidence of right ventricular hypertrophy.
Definitive diagnosis requires echocardiography, which can elucidate the character
and severity of the anatomic anomalies. Initial stabilization involves prostaglandin E1
infusion and endotracheal intubation is frequently required.10
Coarctation of the aorta

Coarctation of the aorta represents a spectrum of disease ranging from mild narrowing
of the descending aorta to complete interruption of the aortic arch. It most often presents as a discrete narrowing in the region of the ligamentum arteriosum. The descending aorta just proximal to the coarcted section is frequently aneurismal, and a bicuspid
aortic valve is present in between 22% and 42% of cases.11 After closure of the ductus
arteriosus, infants with severe coarctation or an interrupted aortic arch present in
shock with acidosis and evidence of end-organ damage.
The most significant clue to diagnosis is a pulse differential between the upper and
lower extremities. A normal patient has an increase of 5 to 10 mm in systolic blood
pressure in the lower extremities compared with the upper extremities. Absence of
this differential or a decrease in the systolic blood pressure in the lower extremities
compared with the upper extremities should prompt further evaluation for coarctation.
Chest radiograph may demonstrate characteristic rib notching, indicative of significant arterial collateral formation bypassing the coarcted area. Echocardiography is
again the diagnostic modality of choice and initial stabilization involves prostaglandin
E1infusion, inotropic support with dopamine or dobutamine, and correction of acidosis
with bicarbonate.
Aortic stenosis

Aortic stenosis is defined as narrowing across the aortic valve. Left untreated, this
results in increased afterload on the left ventricle, left ventricular hypertrophy, and

817

818

Dolbec & Mick

eventual dilatation and failure of the left ventricle. In neonates with critical aortic
valvular stenosis, shock caused by an obstructed aortic valve puts these infants at
extreme risk for early sudden death.3
Echocardiography is used to confirm the diagnosis and prostaglandin E1 is a lifesaving intervention in patients with critical aortic stenosis. Initial stabilization also
includes airway support, inotropic augmentation with dopamine or dobutamine, and
correction of acidosis.8
Right-sided Obstructive Lesions
Transposition of the great vessels

TOGV accounts for 5% of congenital heart disease in children.4 Half of the patients with
this anomaly present within the first hour of life and 90% present within the first day.12
With this lesion, the aorta arises from the right ventricle and receives deoxygenated
blood returning from the systematic circulation. This results in oxygen saturations in
the main pulmonary artery that exceed those in the aorta. Infants with transposition of
the great arteries may be at higher risk of cerebral damage than others because of chronically decreased oxygen delivery to the brain in fetal life as oxygenated blood is pumped
preferentially to the lower body at the expense of the brain.13 With the two components
of the circulation working in parallel instead of in series, a connection between the two, at
the level of the atria, the ventricles, or the ductus, is required for survival.
Neonates with TOGV develop cyanosis soon after birth as the mixing between
venous and arterial blood diminishes with the closure of the foramen ovale and the
ductus arteriosus. If an atrial septal defect, ventricular septal defect, or patent ductus
arteriosus is present, mixing is improved, and cyanosis may not present immediately.
Respirations are typically not labored, the liver is not enlarged, and pulses are generally normal. There is usually not a murmur.
Chest radiographs in TOGV typically show a normal or minimally enlarged cardiac
silhouette. The superior mediastinum is usually narrow and the thymus is involuted,
which leads to an egg-on-a-string appearance (Fig. 4). Pulmonary vasculature is
prominent, and the aortic arch is left-sided. A normal chest radiograph does not
exclude the diagnosis of transposition, and the classic findings are seen less than
50% of the time.14
Echocardiography is the test of choice for diagnosing TOGV and can also be helpful
in identifying associated lesions, such as pulmonic valvular stenosis, a patent foramen
ovale, and ventricular and atrial septal defects. Significant aortic arch hypoplasia,
interruption, or coarctation occurs in 19% of infants with TOGV and an associated
ventricular septal defect and in 0.6% of patients with an intact ventricular septum.13
Echocardiography can also help the clinician visualize the response of the patent ductus arteriosus to a prostaglandin infusion.
Tetralogy of Fallot

Tetralogy of Fallot is the most common cyanotic congenital heart defect. Hallmarks of
this lesion are (1) large, nonrestrictive ventricular septal defect; (2) severe right ventricular outflow track obstruction; (3) overriding of the aorta; and (4) right ventricular
hypertrophy. Timing of presentation and degree of cyanosis correlates precisely
with the amount of right ventricular outflow tract obstruction. Patients with severe
outflow tract obstruction (blue tets) present early in the neonatal period. Those
patients with adequate pulmonary blood flow at birth (pink tets) gradually develop
increasing cyanosis during the first few weeks and months of life. These patients
may present to the emergency department with hypercyanotic tet spells, which
occur as a consequence of transient reductions in pulmonary blood flow.15

Congenital Heart Disease

Fig. 4. Egg-on-a-string appearance of the mediastinum in a patient with transposition of the

great vessels. (From Geggel R, editor. Multimedia library of congenital heart disease. Boston:
Childrens Hospital; Available at: www.childrenshospital.org/mml/cvp. Accessed April 19,
2007; with permission.)

Cyanosis is the most common presenting complaint in infants with tetralogy who are
not diagnosed in utero. Hypercyanotic tet spells are the most dramatic presentation of
this condition and are characterized by profound cyanosis, respiratory distress and
grunting, and fussiness and agitation. These spells are brought on by increased
right-to-left shunting and should be treated in a stepwise fashion with oxygen,
knee-chest position, morphine sulfate, b-blockade, and phenylephrine.16 Kneechest positioning of the infant is thought to increase systemic vascular resistance
and decrease right-to-left shunting. Morphine acts to calm agitation and decrease
venous return. b-Blockade slows the heart rate and allows more blood to enter the
pulmonary circuit across the right ventricular outflow tract, and phenylephrine infusion
increases systemic vascular resistance. Tetralogy of Fallot may also be suggested on
chest radiography by the presence of a boot-shaped heart, which is caused by the
absence of the small, atretic pulmonary arteries (Fig. 5), although diagnosis is most
often made by echocardiography.17
Ebstein anomaly

Ebstein anomaly is a cardiac abnormality of the tricuspid valve and right ventricle in
which the valve is displaced downward and there is atrialization of a portion of the
ventricle.18 This lesion is associated with tricuspid valvular insufficiency and stenosis,
and patients with these anomalies often have accessory atrioventricular conduction
pathways or intraventricular conduction delays that predispose them to arrhythmias.
Patients can also have other structural cardiac anomalies, the most common of which
is an atrial septal defect, which occurs in 80% to 94% of patients with Ebstein
anomaly.19 Patients presenting with Ebstein anomaly have a high mortality rate,
with one study showing that 18% of newborns presenting with Ebstein anomaly
died in the neonatal period.20
Ebstein anomaly may present with cyanosis, right-sided heart failure, arrhythmias,
or sudden cardiac death. Prognosis in these patients is determined by degree of
cyanosis and presence or absence of arrhythmias.

819

820

Dolbec & Mick

Fig. 5. The boot-shaped heart characteristic of tetralogy of Fallot. (From Geggel R, editor.
Multimedia library of congenital heart disease. Boston: Childrens Hospital; Available at:
www.childrenshospital.org/mml/cvp. Accessed April 19, 2007; with permission.)

Chest radiographs reveal dramatic cardiomegaly, sometimes so extreme that the

heart occupies most of the thoracic cavity. The heart is described as globe-shaped
and may have a narrow waist. Echocardiography is the test of choice for diagnosing
Ebstein anomaly and demonstrates the degree of inferior displacement of the proximal
attachments of the tricuspid valvular septal leaflet.
An electrocardiogram should be obtained, because patients with Ebstein anomaly
often have associated arrhythmias.20 Other electrocardiographic abnormalities seen
with Ebstein anomaly include tall and broad P waves, prolonged PR interval, and
complete or incomplete bundle branch block.
Initial treatment of these infants is first directed at decreasing pulmonary vascular
resistance and preserving pulmonary blood flow. Prostaglandin E1 should be initiated
in an infant suspected of having Ebstein anomaly for maintenance of the patent ductus
arteriosus.
Lesions Presenting as CHF
Truncus arteriosus

Patients with truncus arteriosus have only one great artery leaving the heart. This gives
rise to the coronary arteries, aorta, and pulmonary arteries. There is a single semilunar
valve, which is frequently regurgitant or stenotic. Patients with truncus arteriosus
always have an associated large ventricular septal defect, and left and right ventricular
pressures are equal. In addition, systemic and pulmonary arterial pressures are equal,
resulting in pulmonary hypertension. Pulmonary arterial flow is frequently increased
leading to pulmonary congestion and interstitial edema.
Physical examination findings in truncus arteriosus include tachypnea and diaphoresis, especially with feedings. As the pulmonary vascular resistance falls over the first
few days of life, these symptoms become more prominent and patients frequently
have a component of CHF as a result of the increased pulmonary blood flow. Mild
cyanosis may be present. Pulses are bounding because of diastolic runoff into the

Congenital Heart Disease

pulmonary arteries. A right ventricular impulse is palpable at the left lower sternal
border. Usually, a murmur and systolic ejection click is heard within the first several
days of life because of the high-flow state.6
Chest radiography shows cardiomegaly and evidence of increased pulmonary
blood flow, including pulmonary vascular congestion and interstitial edema. A rightsided aortic arch may be present. Truncus arteriosus should be strongly suspected
in the setting of a right-sided aortic arch, a systolic ejection click, increased pulmonary
vascular markings, and mild cyanosis.
Echocardiography is the modality of choice for diagnosis and reveals the large
ventricular septal defect, single great artery, dysplastic truncal valve, and the divergence of the pulmonary arteries from the truncus. Doppler echocardiography can
identify stenosis or regurgitation across the truncal valve. Initial stabilization of these
patients involves treatment of CHF, as outlined previously.
Total anomalous pulmonary venous return

TAPVR occurs when the pulmonary veins do not connect to the left atrium and instead
drain into other embryologic venous structures that would typically involute in the
setting of correct pulmonary vein attachment to the left atrium. Anomalous pulmonary
venous return is total or partial. Partial anomalous pulmonary venous return has some
pulmonary veins draining normally to the left atrium and some anomalous pulmonary
veins draining to other venous structures in the thorax. In patients with TAPVR, none of
the pulmonary veins drain into the left atrium. The four forms of TAPVR are (1) supracardiac, (2) cardiac, (3) infracardiac, and (4) mixed. With all forms of TAPVR, an atrial
septal defect is required for any blood to reach the left side of the heart. There is mixing
of oxygenated and deoxygenated blood in the right atrium, and thus the blood that
crosses the atrial septal defect to the left heart is not fully oxygenated. There is an
increase volume load to the right atrium, which results in dilation of the right atrium,
right ventricle, and pulmonary arteries.
Physical examination findings in neonates with TAPVR include mild to moderate
cyanosis. As the pulmonary vascular resistance decreases after birth, signs of CHF
develop with tachypnea and diaphoresis. Pulmonary rales and a hepatomegaly may
be found. Patients with infradiaphragmatic TAPVR typically present more acutely
than other subtypes and are more likely to become hemodynamically unstable.
Findings on chest radiograph include an enlarged cardiac size with increased
pulmonary vascular markings. In cases of supracardiac TAPVR the cardiac silhouette
resembles a figure eight or snowman in shape because of the dilated vertical vein and
superior vena cava. As with other lesions, echocardiography is the standard diagnostic modality for diagnosing TAPVR and determining the location and drainage of
all four pulmonary veins is essential.
Initial treatment of TAPVR should focus on management of heart failure. Some
infants present with cyanosis as the chief complaint and may be started on prostaglandin E1 as a stabilizing maneuver. TAPVR is the only cause of neonatal cyanosis
that may be worsened by administration of prostaglandin E1. In the presence of a prostaglandin E1 infusion, pulmonary blood flow increases further through the patent ductus arteriosus causing worsening pulmonary vascular congestion and edema. If
a cyanotic child with suspected congenital heart disease has worsening respiratory
distress after initiation of prostaglandins, TAPVR should be suspected.
Ventricular septal defect

Ventricular septal defect, defined as a hole in the ventricular septum, is the most
common congenital heart defect in children. At birth, the pressures in the right and

821

822

Dolbec & Mick

left ventricles are equal, there is no shunting, and the ventricular septal defect may not
be detected. As the pulmonary vascular resistance decreases after birth, blood begins
to flow through the defect from the left ventricle to the right ventricle and recirculate
through the lungs. As the shunt volume increases, both ventricles and the left atrium
dilate, and right ventricular volume overload may cause hepatomegaly or pulmonary
congestion. In the setting of a large defect, tachypnea and failure to thrive ensue.
Pulmonary hypertension occurs when the high left ventricular pressure is transmitted
through the defect to the pulmonary circulation.
History and physical examination components vary depending of the size, and resulting hemodynamic significance, of the defect. Patients with a small ventricular septal
defect have a loud, holosystolic murmur, usually audible starting shortly after birth.
They are generally otherwise asymptomatic. Patients with a moderate-to-large ventricular septal defect typically present with poor weight gain. They are often dyspneic and
diaphoretic, especially with feedings. Feeding problems and irritability are common,
and infants may be misdiagnosed with colic or gastroesophageal reflux. These infants
also have hepatomegaly, and systemic perfusion can be compromised.21
Chest radiographs may demonstrate cardiomegaly and increased pulmonary blood
flow as CHF develops. Echocardiography is the most accurate tool for diagnosing and
characterizing a ventricular septal defect. An echocardiogram can also evaluate the
hemodynamic significance of the lesion, including direction and volume of flow across
the ventricular septum.22
Patent ductus arteriosus

In this abnormality, the ductus arteriosus remains persistently open after birth.
Because the aortic pressure exceeds the pulmonary arterial pressure throughout
the cardiac cycle, there is a continuous flow of blood from the aorta to the pulmonary
artery. Postnatal increases in pulmonary blood flow in the setting of prematurity can
lead to pulmonary edema, loss of lung compliance, and deterioration of respiratory
function, which ultimately leads to chronic lung disease. Large amounts of left-toright shunting through the ductus may also increase the risk of intraventricular hemorrhage, necrotizing enterocolitis, and death.23 Persistent patent ductus arteriosus is
much more common in premature infants and in patients with lung disease.24 Genetic
factors, environmental exposures, such as medications, and prenatal infections, such
as rubella, may also play a role in persistent patency.25
Patients with symptomatic patent ductus arteriosus typically present as dyspneic,
especially with activity. The hallmark physical finding in patients with a patent ductus
arteriosus is a murmur, described as continuous and machinery-like. Peripheral
pulses are typically bounding. Some patients present primarily in atrial fibrillation
because of chronic and progressive left atrial enlargement.
Chest radiographs in patients with patent ductus arteriosus can be normal or may
display cardiomegaly with increased pulmonary vascular markings. Electrocardiogram
is often normal in patients with small shunts but may show sinus tachycardia, atrial
fibrillation, left ventricular hypertrophy, or left atrial enlargement with moderate-tolarge shunts. Diagnosis can be made and the degree of shunting can be verified by
echocardiography.
Stabilization of a symptomatic patient with a patent ductus arteriosus can generally
be achieved with digoxin and diuretics. Afterload-reducing agents, such as
angiotensin-converting enzyme inhibitors, may also improve clinical status. Patients
presenting with arrhythmias, such as atrial fibrillation or flutter, should be treated
with antiarrhythmics or cardioversion and maintained on antiarrhythmics, b-blocking
medications, and anticoagulants as indicated.

Congenital Heart Disease

Most patients have spontaneous closure of their ductus in the first days to months of
life. However, if it does not close within the first year, it is very unlikely to do so spontaneously. At that point, intervention to promote closure is recommended to prevent
long-term pulmonary complications and infective endocarditis, for which these
patients are at increased risk. Nonselective cyclooxygenase inhibitors, such as indomethacin or ibuprofen, are generally used to induce ductus closure, but these may be
less effective in severely premature infants.
Congenital Cardiac Arrhythmias
Supraventricular tachycardia

Supraventricular tachycardia is the most common symptomatic arrhythmia in the

pediatric population, and 60% to 80% of these patients present in the first year of
life.8 The tachycardia is most commonly narrow complex, and the rate is typically
greater than 220 beats per minute, but it can be up to 300 beats per minute. Atrioventricular reentrant tachycardia, including the Wolff-Parkinson-White syndrome, can
result from an accessory bypass tract between the atria and ventricles. Atrioventricular nodal reentrant tachycardia occurs when there is a reentrant pathway within the
atrioventricular node. Most patients with supraventricular tachycardia have structurally normal hearts, but 25% have an associated congenital heart defect. Presenting
complaints with sustained tachycardia include irritability and feeding intolerance. If
the duration of tachycardia is prolonged, the patient may develop CHF. Diagnosis
is established by characteristic findings on electrocardiogram. A narrow-complex
tachycardia with a rate of 220 to 300 beats per minute or regular sinus rhythm with
a Wolff-Parkinson-White pattern, characterized by a short PR interval and a slurred,
delta-shaped initial segment of the QRS complex, on electrocardiogram is highly
suggestive of the diagnosis.
Initial treatment for supraventricular tachycardia includes attempts at blocking the
atrioventricular node, because most of the supraventricular tachycardias involve the
atrioventricular node as part of the electrical circuit. Vagal maneuvers can be
attempted first, such as application of a bag of ice to the face. Adenosine, a potent
atrioventricular nodal blocker, is the drug of choice for supraventricular tachycardia.
It is successful at terminating supraventricular tachycardia in 80% to 90% of children. The initial dose is 0.1 mg/kg to a maximum of 6 mg and subsequent doses
should be 0.2 mg/kg to a maximum of 12 mg. Other medication options include
digoxin and procainamide. Verapamil should not be used in infants. An unstable
child in supraventricular tachycardia should be rapidly direct-current cardioverted
using 0.5 to 1 J/kg.
Stable children in sinus rhythm can be discharged home with pediatric cardiology
follow-up. Patients may go home on an antiarrhythmic, such as digoxin or propranolol,
but this decision should be made in consultation with pediatric cardiology. Many
infants outgrow their supraventricular tachycardia by 1 year of age. Patients with
persistent episodes of tachycardia after 1 year and despite aggressive medical
therapy may require radiofrequency catheter ablation.
Long QT syndrome

Congenital long QT syndrome is a genetic disorder characterized by prolongation of

the QT interval on electrocardiogram. This leads to a propensity for developing
torsades de pointes polymorphic ventricular tachycardia in the setting of adrenergic
stimulation. Long QT syndrome is highly genetically linked and is principally caused
by mutations of the genes encoding potassium and sodium ion channels or proteins
associated with these channels.

823

824

Dolbec & Mick

Patients with long QT syndrome often present primarily with palpitations, syncope,
cardiac arrest, or sudden death. These patients are typically young and otherwise
healthy. Any patient with palpitations, syncope, cardiac arrest, or sudden death
requires that a thorough family history be obtained. In the setting of a family history
of cardiac events at a young age or unexplained syncope or death, long QT syndrome
needs to be strongly considered.
A 12-lead electrocardiogram should be obtained to confirm the diagnosis. QT
interval should be measured, and an age- and gender-specific corrected QT interval
(QTc) should be calculated. Patients with a QTc of greater than 500 milliseconds
and symptomatic episodes are highly likely to have disease. A symptomatic patient
with a borderline QTc of 440 to 500 milliseconds needs further evaluation.2628
b-Blockers are the therapy of choice for long-term management of long QT
syndrome to blunt the adrenergic surges associated with deterioration of sinus rhythm
to torsades de pointes and then to ventricular fibrillation. Patients should be counseled
to avoid activities associated with increased catecholamine release including exercise
and swimming, high emotions, loud noise, or sudden awakening from sleep. In symptomatic patients with a QTc greater than 440 milliseconds, urgent referral to pediatric
cardiology is imperative. Patients with a QTc greater than 500 milliseconds require
cardiology consultation while still in the emergency department. In consultation with
pediatric cardiology, these patients should be admitted to the hospital pending placement of the cardioverter-defibrillator or may possibly be discharged home with
a portable external defibrillator and family education regarding its use. All firstdegree relatives of definitively diagnosed patients should be screened for the disorder
with electrocardiogram.29
Complete heart block

Congenital complete heart block in infants and children is relatively uncommon and in
up to 30% patients there are associated structural heart defects.8 Most of these
patients are diagnosed en utero. Maternal risk factors include systemic lupus erythematosus. Acquired complete heart block is most typically a result of cardiac surgery
for congenital heart disease; myocarditis; or infectious etiologies, such as Lyme
disease.
Patients with symptomatic complete heart block present with signs and symptoms
of hypoperfusion, including syncope or sudden death. Physical findings include
bradycardia and cannon waves in the neck, generated by atrial contraction against
closed tricuspid valves.
Diagnosis is achieved by electrocardiogram. Complete heart block as a result of
Lyme carditis has a low morbidity, resolves spontaneously, and does not require
any specific treatment. Definitive treatment for other causes of complete heart block
is placement of a permanent pacemaker. In a hemodynamically unstable patient in the
emergency department, sedation and transcutaneous pacing may be required.
SPECIAL CONSIDERATIONS IN THE TREATMENT OF ADULTS WITH CONGENITAL
HEART DISEASE

As our surgical techniques, understanding of multisystem effects, and medical

management of congenital heart disease have improved, the duration of survival
with congenital heart disease has increased. The prevalence of severe congenital
heart disease in adults increased 85% between 1985 and 2000, significantly outpacing the prevalence in the pediatric population.30 Special circumstances, including
pregnancy in a patient with congenital heart disease, must be considered as women
with congenital heart disease live to childbearing age and beyond. In addition, adult

Congenital Heart Disease

patients with congenital heart disease may present to the emergency department with
decompensation of their chronic cardiac conditions. Most of the acute presentations
of adults with congenital heart disease involve heart failure, respiratory compromise,
and dysrrhythmias.
Patients with long-standing congenital heart disease may develop CHF. Left-sided
and right-sided lesions may be treated very differently in the setting of heart failure.
Patients with primarily left-sided disease, including left ventricular dysfunction and
aortic or mitral valve disease with ether low cardiac output or left atrial hypertension,
may benefit substantially from positive pressure ventilation. Positive pressure
increases intrathoracic pressure, decreasing afterload and allowing for more effective
forward flow of blood. In contrast, patients with right-sided lesions likely decline
further with the initiation of positive pressure ventilation. As intrathoracic pressure is
increased, systemic vascular return to the heart decreases. This lowers cardiac preload and leads to decreased cardiac output and circulatory collapse. The remainder
of supportive measures applicable to all other patients presenting with CHF including
nitrates, diuretics, supplemental oxygen, and positive inotropy also apply to patients in
heart failure with congenital heart disease.
Adult patients with congenital heart disease may develop pulmonary complications,
such as pulmonary artery hypertension. Unrepaired systemic-to-pulmonary vascular
connection, such as ventricular septal defect, patent ductus arteriosus, or atrioventricular canal, can result in increased pressure through the pulmonary vasculature. Known
as Eisenmenger syndrome, these patients go on to develop cyanosis and its associated complications, such as polycythemia, headaches, blurred vision, and strokes.
Shortness of breath ensues, and hemoptysis is not uncommon with advanced
disease. Supplemental oxygen, digitalis, diuretics, phlebotomy, and anticoagulation
may help mitigate some of the symptoms and complications of the disease. However,
once the pathophysiologic changes have occurred, the process is generally progressive and irreversible.31
More than 50% of patients with congenital heart disease develop arrhythmias in
their lifetime. Arrhythmias are the leading cause of hospital admissions for adults
with congenital heart disease, and they constitute a significant predictor of mortality.30
For patients with compromised cardiac output at baseline, loss of synchronous atrioventricular activity can cause hemodynamic compromise and collapse. Treatment is
supportive, and intervention should be in collaboration with an electrophysiologist
comfortable in the management of patients with congenital heart disease.
SUMMARY

Pediatric congenital heart disease comprises a wide spectrum of structural defects.

These lesions, although many, tend to present in a limited number of ways. An infant
presenting with profound shock, cyanosis, or evidence of CHF should raise the suspicion of congenital heart disease. Although most congenital lesions are diagnosed in
utero, the emergency physician must be aware of these cardinal presentation because
patients present in the postnatal period around the time that the ductus arteriosus
closes. Aggressive management of cardiopulmonary instability combined with empiric
use of prostaglandin E1 and early pediatric cardiology consultation is essential for
positive outcomes.
REFERENCES

1. Hoffman JI. Congenital heart disease: incidence and inheritance. Pediatr Clin
North Am 1990;37(1):2543.

825

826

Dolbec & Mick

2. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39(12):1890900.
3. Pelech AN, Neish SR. Sudden death in congenital heart disease. Pediatr Clin
North Am 2004;51(5):125771.
4. Sander TL, Klinkner DB, Tomita-Mitchell A, et al. Molecular and cellular basis of
congenital heart disease. Pediatr Clin North Am 2006;53(5):9891009.
5. Nora JJ. Etiologic aspects of heart diseases. In: Adams FH, Emmanouilides GC,
Riemenschneider TA, editors, Moss heart disease in infants, children, and
adolescents, vol. 4. Baltimore (MD): Williams & Wilkins; 1989. p. 1523.
6. Cooper JJ, Enderlein MA, Tarnoff H, et al. Asymmetric septal hypertrophy in
infants of diabetic mothers: fetal echocardiography and the impact of maternal
diabetic control. Am J Dis Child 1992;146:2269.
7. Grifka RG. Cyanotic congenital heart disease with increased pulmonary blood
flow. Pediatr Clin North Am 1999;46(2):40525.
8. Burton DA, Cabalka AK. Cardiac evaluation of infants. The first year of life. Pediatr
Clin North Am 1994;41(5):9911015.
9. Reddy SC, Saxena A. Prostaglandin E1: first stage palliation in neonates with
congenital cardiac defects. Indian J Pediatr 1998;65(2):2116.
10. Barron DJ, Kilby MD, Davies B, et al. Hypoplastic left heart syndrome. Lancet
2009;374(9689):55164.
11. Aboulhosn J, Child JS. Left ventricular outflow obstruction: subaortic stenosis,
bicuspid aortic valve, supravalvar aortic stenosis, and coarctation of the aorta.
Circulation 2006;114(22):241222.
12. Moss AJ. Clues in diagnosing congenital heart disease. West J Med 1992;156(4):
3928.
13. Skinner J, Hornung T, Rumball E. Transposition of the great arteries: from fetus to
adult. Heart 2008;94(9):122735.
14. Donnelly LF, Hurst DR, Strife JL, et al. Plain-film assessment of the neonate with
D-transposition of the great vessels. Pediatr Radiol 1995;25:1957.
15. Shinebourne EA, Babu-Narayan SV, Carvalho JS. Tetralogy of Fallot: from fetus to
adult. Heart 2006;92(9):13539.
16. Apitz C, Webb GD, Redington AN. Tetralogy of Fallot. Lancet 2009;374(9699):
146271.
17. Strife JL, Sze RW. Radiographic evaluation of the neonate with congenital heart
disease. Radiol Clin North Am 1999;37(6):1093107.
18. Attenhofer Jost CH, Connolly HM, Dearani JA, et al. Ebsteins anomaly. Circulation 2007;115(2):27785.
19. Paranon S, Acar P. Ebsteins anomaly of the tricuspid valve: from fetus to adult:
congenital heart disease. Heart 2008;94(2):23743.
20. Celermajer DS, Cullen S, Sullivan ID, et al. Outcome in neonates with Ebsteins
anomaly. J Am Coll Cardiol 1992;19(5):10416.
21. Frommelt MA. Differential diagnosis and approach to a heart murmur in term
infants. Pediatr Clin North Am 2004;51(4):102332.
22. Minette MS, Sahn DJ. Ventricular septal defects. Circulation 2006;114(20):
21907.
23. Hamrick SE, Hansmann G. Patent ductus arteriosus of the preterm infant. Pediatrics 2010;125(5):102030.
24. Bose CL, Laughon MM. Patent ductus arteriosus: lack of evidence for common
treatments. Arch Dis Child Fetal Neonatal Ed 2007;92(6):F498502.
25. Schneider DJ, Moore JW. Patent ductus arteriosus. Circulation 2006;114(17):
187382.

Congenital Heart Disease

26. Zareba W, Cygankiewicz I. Long QT syndrome and short QT syndrome. Prog Cardiovasc Dis 2008;51(3):26478.
27. Roden DM. Clinical practice. Long-QT syndrome. N Engl J Med 2008;358(2):
16976.
28. Khan IA. Clinical and therapeutic aspects of congenital and acquired long QT
syndrome. Am J Med 2002;112(1):5866.
29. Moss AJ. Long QT syndrome. JAMA 2003;289(16):20414.
30. Allen CK. Intensive care of the adult patient with congenital heart disease. Prog
Cardiovasc Dis 2011;53:27480.
31. Rosenzweig EB. Eisenmengers syndrome: current management. Prog Cardiovasc Dis 2002;45(2):12938.

827