Neonate Cardiology

CASE 1: A NEONATE WITH A
HEART MURMUR
A full-term newborn delivered without complications is
noted to have a heart murmur at 1 day of age. The mur-
mur is described as a grade 2/6 systolic ejection-type
murmur heard best at the upper left sternal border. The
heart sounds are normal. The blood pressure is normal.
The peripheral pulses are normal. The oxygen saturation
is 100% in room air. On day of life 3, the murmur has
changed from a systolic murmur to a continuous murmur
again heard best at the upper left sternal border. The baby
appears well and is tolerating feeds without difculties.
SELECT THE ONE BEST ANSWER
1. What is the likely cause of this heart murmur?
(A) patent ductus arteriosus
(B) atrial septal defect
(C) ventricular septal defect
(D) peripheral pulmonary stenosis
(E) aortic stenosis
2. This continuous murmur persists for more than
72 hours. What is the most appropriate test to eval-
uate the etiology of this murmur?
(A) chest radiograph
(B) electrocardiogram (ECG)
(C) complete blood count
(D) echocardiogram
(E) cardiac catheterization
3. The echocardiogram demonstrates a small patent
ductus arteriosus with no associated cardiac lesions
and no evidence of left heart volume overload.
What advice would you give to the family regarding
further follow-up?
(A) no further cardiology follow-up is needed
(B) there is a lifelong ongoing risk for endarteritis
and antibiotic prophylaxis should be given as
needed
(C) immediate surgical repair is required
(D) there is minimal risk for endarteritis and no
antibiotic prophylaxis is needed
(E) B and C
4. At day of life 7, the neonate described develops
increased shortness of breath, decreased feeding,
and a chest radiograph shows pulmonary edema.
What is the best rst-line course of action?
(A) prostaglandin E
1
infusion
(B) a course of indomethacin
(C) supplemental oxygen
(D) nitric oxide
(E) phenylephrine
5. A full-term newborn delivered via normal sponta-
neous vaginal delivery with Apgars of 9 at 1 minute
and 9 at 5 minutes is noted to have a grade 2/6 sys-
tolic murmur at the left sternal border on day 1 of
life. Upon reexamination on day 4 of life, the
neonate is found to have poor perfusion, poor
pulses, hypotension, and shock. What is the least
likely cause of shock in this neonate?
(A) perinatal asphyxia
(B) sepsis
(C) hypoglycemia
(D) cardiogenic shock
(E) myocarditis
6. Which of the following congenital heart lesions
may result in cardiogenic shock following sponta-
neous closure of the ductus arteriosus?
(A) atrial septal defect
(B) hypoplastic left heart syndrome
(C) mitral valve prolapse
(D) ventricular septal defect
(E) tetralogy of Fallot
Chapter 1
CARDIOLOGY
1
Chapter 1
CARDIOLOGY
01-Daum_Ch01_p001-p024.qxd 3/3/11 3:26 PM Page 1
2 CHAPTER 1 CARDIOLOGY
7. What test would be most helpful to diagnose the
cause of shock in this neonate?
(A) chest radiograph
(B) arterial blood gas
(C) blood glucose level
(D) echocardiogram
(E) a blood culture
8. What is the most appropriate acute treatment for
cardiogenic shock as a result of left heart obstruc-
tive lesions?
(A) prostaglandin E
1
infusion
(B) indomethacin administration
(C) supplemental oxygen administration
(D) nitric oxide
(E) intravenous (IV) furosemide (Lasix)
9. What are other courses of action to be taken for
patients with cardiogenic shock?
(A) inotropic medications such as epinephrine and
dopamine
(B) ventilatory support
(C) oxygen supplementation
(D) correct any metabolic abnormalities
(E) all of the above
10. A neonate with a heart murmur on examination is
noted to have a bluish tinge to the lips. The baby is
smiling and eating well in no apparent distress. The
baby is warm with good pulses. An oxygen satura-
tion monitor was placed on the babys nger and the
oxygen saturation in room air is 80%. Which of the
following is (are) likely to account for this patients
nding of cyanosis?
(A) cyanotic congenital heart disease
(B) hemoglobinopathy
(C) respiratory disease
(D) anemia
(E) A, B, and C
11. Which test would most likely help differentiate a
cardiac versus pulmonary cause for cyanosis?
(A) hyperoxia test
(B) blood gas on room air
(C) chest radiograph
(D) complete blood count
(E) chest computed tomography (CT)
12. What is the most common cyanotic heart lesion in
the neonate?
(A) transposition of the great arteries
(B) total anomalous pulmonary venous return
(C) tricuspid atresia
(D) tetralogy of Fallot
(E) Ebstein anomaly
13. What would be an appropriate rst-line treatment
for the management of cyanosis as a result of heart
disease?
(A) prostaglandin E
1
infusion
(B) indomethacin administration
(C) nitric oxide
(D) surfactant
(E) dopamine
14. A 4-year-old with a known diagnosis of unrepaired
tetralogy of Fallot becomes severely cyanotic while
crying. Which of the following is not indicated for
acute management of this situation?
(A) administering of oxygen
(B) placing the child in the knee-chest position
(C) administering morphine sulfate
(D) rectal stimulation
(E) administration of phenylephrine
15. Which of the following is not a complication of
chronic cyanosis?
(A) polycythemia
(B) stroke
(C) brain abscess
(D) cognitive abnormalities
(E) cerebral aneurysms
ANSWERS
1. (A) The most likely cause of this murmur is a patent
ductus arteriosus (Figure 1-1). Atrial septal defects
are unlikely to cause a heart murmur at this early age,
and ventricular septal defects cause a holosystolic
murmur that does not evolve into a continuous
murmur. Peripheral pulmonary stenosis is associated
with a systolic ejection murmur that radiates to the
back and to both axillae. Aortic stenosis causes a
systolic murmur that does not evolve into a continuous
murmur. The ductus arteriosus is required for fetal
circulation; however, the structure usually closes
within hours after delivery secondary to changes in
oxygen tension as well as other circulating factors
such as prostaglandin. Persistence of the ductus
arteriosus occurs in approximately 0.8 per 1000 live
births but is much more common in premature new-
borns with an incidence as high as 20% in neonates
weighing less than 1750 g. In patients with low oxy-
gen tension, pulmonary hypertension, or congenital
heart disease, there is delayed closure of the ductus
arteriosus.
CASE 1 A NEONATE WITH A HEART MURMUR 3
2. (D) The ductus arteriosus in this neonate remains
patent after 72 hours. The most appropriate test to
conrm this is the echocardiogram. This test will
not only conrm the diagnosis of the patent ductus
arteriosus but will also assess any associated car-
diac lesions. It is critical to check for pulmonary
artery hypertension or ductal-dependent cardiac
lesions when planning for closure of the patent duc-
tus arteriosus.
3. (D) The presence of a small patent ductus arteriosus is
unlikely to lead to signicant left-to-right shunting or
volume overloading and therefore does not place the
child at risk for development of heart failure. There is
about a 5% incidence of spontaneous closure of a
small patent ductus arteriosus, and thus immediate
surgery is usually not required in that situation.
Recent review of subacute bacterial endocarditis has
suggested that the lifelong risk for bacterial endarteri-
tis with the presence of a patent ductus arteriosus is
extremely low. Therefore, current guidelines do not
recommend antibiotic prophylaxis for this condition.
4. (B) In this situation, a large patent ductus arteriosus
has allowed signicant left-to-right shunting result-
ing in pulmonary edema, shortness of breath, and
left ventricular volume overload. The treatment
options at this point include administration of
indomethacin in an attempt to close the patent duc-
tus arteriosus. Indomethacin is effective in approxi-
mately 80% of cases; however, its effectiveness
decreases if administered after 2 weeks of age. Other
treatment options for closure of a hemodynamically
significant ductus arteriosus include surgery or
transcatheter device closure. Both can be performed
safely and effectively with minimal morbidity and
mortality. Administration of oxygen to the patient
with congestive heart failure because of a large left-
to-right shunt would be detrimental in that it may
decrease pulmonary vascular resistance and increase
the degree of left-to-right shunting, exacerbating the
symptoms of heart failure. The same is true for
administration of nitric oxide in this situation.
Administration of phenylephrine would cause an
increase in systemic vascular resistance and result in
a greater degree of left-to-right shunting.
5. (A) The etiology of shock in the neonate includes
the following:
hypoglycemia
asphyxia
sepsis
intracranial bleeding
arrhythmias including tachyarrhythmias and
bradycardias
cardiogenic shock because of left-sided obstruc-
tive lesions
myocarditis
The least likely explanation of shock in this baby is
asphyxia because there is no history of perinatal
asphyxia or distress based on the birth history.
6. (B) Cardiogenic shock may be the rst presentation
in the neonate with congenital heart disease. Spe-
cic heart lesions causing left ventricular outow
tract obstruction may present in this manner. These
lesions include critical aortic stenosis, hypoplastic
left heart syndrome, and coarctation of the aorta. A
patent ductus arteriosus allows for blood to bypass
left-sided obstructions thus maintaining adequate
cardiac output. With closure of the ductus, cardiac
output is diminished. The neonate with cardiogenic
shock from ductal-dependent lesions often presents
at 1-2 weeks of age with shock related to the spon-
taneous closure of the ductus arteriosus.
7. (D) An echocardiogram would be the most useful
test in this situation to determine if there is a ductal-
dependent cardiac lesion. It is also useful to detect
primary myocardial dysfunction related to other
causes of shock.
8. (A) The acute therapy for shock as a result of
ductal-dependent cardiac lesions is infusion of
prostaglandin E
1
in hopes of reestablishing patency
of the ductus arteriosus.
Patent ductus
arteriosus (PDA)
FIGURE 1-1. Patent ductus arteriosus (PDA).
9. (E) The other acute management strategies for shock
in the neonate include inotropic support with
dopamine or epinephrine, ventilatory support in
cases of respiratory compromise, oxygen supple-
mentation, and correction of metabolic abnormalities
such as acidosis, hypokalemia, and hypocalcemia.
10. (E) Cyanosis can be divided into 2 clinical cate-
gories: central or peripheral. Central cyanosis is a
result of a decrease in the oxygen saturation of
blood supplying the body. Peripheral cyanosis is a
benign nding caused by increased oxygen extrac-
tion in distal capillary beds and is commonly seen
in normal neonates. The clinical detection of
cyanosis occurs when approximately 3-5 g/dL of
desaturated hemoglobin is present in the systemic
circulation. The most common causes of central
cyanosis in the neonate include cyanotic heart dis-
ease, hemoglobinopathies, and respiratory distress.
11. (A) The test most likely to help differentiate cyan-
otic heart disease from respiratory disease is the
hyperoxia test. In this test, 100% oxygen is adminis-
tered to the patient and the partial pressure of oxy-
gen is measured. In patients with cyanotic heart
disease, the partial pressure of oxygen rarely
increases above the level of 100 mm Hg, whereas in
lung disease there is usually some change from the
baseline PO
2
with administration of oxygen. The
lack of response to oxygen in cyanotic heart disease
is a result of xed right-to-left shunting of desatu-
rated blood to the systemic circulation. Although the
other tests mentioned may be helpful in the evalua-
tion of the cyanotic neonate, they are not as sensitive
in differentiating cardiac from respiratory etiologies.
12. (A) Cardiac lesions associated with cyanosis
include
transposition of the great arteries (the most common)
tetralogy of Fallot
truncus arteriosus
tricuspid atresia
pulmonary atresia
total anomalous pulmonary venous return
Other lesions include single-ventricle physiology
such as hypoplastic left heart syndrome, or Ebstein
anomaly of the tricuspid valve with right-to-left
shunting across an atrial septal defect.
13. (A) In patients with cyanosis because of heart
disease, there is either obligate mixing of saturated
and desaturated blood reaching the systemic circu-
lation (eg, truncus arteriosus) or decreased effective
pulmonary blood ow. In either situation, promo-
tion of increased pulmonary blood ow or
improved mixing of desaturated and saturated
blood would increase the systemic oxygen satura-
tion. This is acutely achieved by infusion of
prostaglandin E
1
to reestablish (or maintain)
patency of the ductus arteriosus. Therefore, in situ-
ations where cyanosis because of heart disease is
suspected, infusion of prostaglandin E
1
should be
instituted as soon as possible.
14. (D) Patients with tetralogy of Fallot are at risk for a
hypercyanotic tet spell. This usually occurs in
patients older than 2 years of age, although it has
been reported at younger ages. The mechanism of a
hypercyanotic spell is acute and progressive pul-
monary stenosis, with increased right-to-left shunt-
ing of desaturated blood to the systemic circulation.
This is precipitated by an increase in circulating
catecholamines, anxiety, hypoxia, or dehydration.
Interventions to break this cycle include adminis-
tration of oxygen, morphine, propranolol, or
phenylephrine, placing the child in a knee-chest
position. In extreme cases, muscle relaxation and
intubation are required. Rectal stimulation would
serve to worsen the crisis by increasing the cate-
cholamine levels (Figure 1-2).
FIGURE 1-2. Tetralogy of Fallot.
CASE 2 A 10-YEAR-OLD BOY WITH PALPITATIONS 5
15. (E) Complications in patients with chronic cyanosis
include polycythemia (compensation for decreased
systemic oxygen tension), and risk of strokes
because of an increased propensity for forming
blood clots and increased blood viscosity. This is
particularly concerning when the hematocrit is
higher than 70%. A relative anemia may be seen in
patients with cyanosis with low hemoglobin
indexes. Some have suggested that this increases
the risk of stroke because of increased blood viscos-
ity. Another complication is brain abscess formation
because of poor venous blood ow and increased
susceptibility to infection. Impaired cognitive func-
tion is associated with long-standing cyanosis. The
degree of impairment is related to both the degree
and duration of cyanosis.
SUGGESTED READING
Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, eds. Moss and
Adams Heart Disease in Infants, Children and Adolescents.
7th ed. Philadelphia, PA: Williams and Wilkins; 2007.
Braunwald E, Zipes DP, Libbey P, eds. Braunwald: Heart Dis-
ease: A Textbook of Cardiovascular Medicine. 7th ed.
Philadelphia, PA: WB Saunders; 2004.
Keane JF, Fyler DC, Lock JE, eds. Nadas Pediatric Cardiology.
2nd ed. Philadelphia, PA: Hanley and Belfus; 2006.
Park M, ed. Pediatric Cardiology for Practitioners. 5th ed. St.
Louis, MO: Mosby; 2007.
CASE 2: A 10-YEAR-OLD BOY
WITH PALPITATIONS
A10-year-old boy presents to the clinic with a history of
intermittent episodes of palpitations occurring 1 time
per month. The episodes are not associated with exer-
cise or activity, last for several minutes, and resolve
spontaneously. There is no signicant past medical his-
tory, no new medications, and no dizziness or syncope.
A12-lead ECG, performed while he is asymptomatic, is
normal.
1. Which test would best help to evaluate the etiology
of this patients palpitations?
(A) echocardiogram
(B) chest radiograph
(C) event recorder monitor
(D) exercise stress test
(E) tilt table test
Match the ECG rhythm strips in questions 2 through 5 to
one of the ndings below.
(A) premature atrial contractions
(B) premature ventricular contractions
(C) sinus tachycardia
(D) sinus arrhythmia
2. Figure 2-1 shown below
6. What is the most likely cause of supraventricular
tachycardia in the patient whose history was pre-
sented above?
(A) a concealed accessory bypass tract causing
orthodromic, reciprocating tachycardia
(B) AV node reentry tachycardia
(C) ectopic atrial tachycardia
(D) atrial utter
(E) atrial brillation
FIGURE 2-1.
FIGURE 2-2.
FIGURE 2-3.
FIGURE 2-4.
7. What is an appropriate acute therapy for sympto-
matic orthodromic, reciprocating tachycardia?
(A) DC cardioversion
(B) IV adenosine
(C) vagal maneuvers
(D) all of the above
(E) none of the above
8. Which of the following agents is considered rst-
line therapy for chronic control of orthodromic,
reciprocating tachycardia?
(A) propafenone
(B) atenolol
(C) sotalol
(D) amiodarone
(E) ecainide
9. What would be the most appropriate acute therapy
for symptomatic ectopic atrial tachycardia?
(A) DC cardioversion
(B) IV adenosine
(C) vagal maneuvers
(D) IV esmolol
10. A child with supraventricular tachycardia (SVT) is
found to have a resting ECG rhythm strip shown in
Figure 2-5. What is the diagnosis?
(A) digoxin
(B) verapamil
(C) propranolol
(D) amiodarone
(E) ecainide
13. A10-year-old child experiences palpitations associ-
ated with dizziness when standing. He has had one
episode of syncope following standing in school.
What is the most common etiology of syncope in
this age group?
(A) seizures
(B) cardiac disease
(C) hypoglycemia
(D) neurocardiogenic (vasovagal)
(E) cardiac arrhythmia
14. Which of the following features would suggest neu-
rocardiogenic syncope?
(A) urinary incontinence during episodes of
syncope
(B) auditory aura preceding episode of syncope
(C) transient right arm paralysis following episode
of syncope
(D) symptoms of dizziness, blurred vision,
diaphoresis preceding syncope
(E) prolonged episode of unconsciousness
15. Which of the following is true regarding tilt table
testing for syncope?
(A) tilt table testing should be performed for every
patient with syncope
(B) the results of tilt table testing are highly repro-
ducible for an individual
(C) tilt table testing is reserved for complicated cases
where the diagnosis of syncope is uncertain
(D) tilt table testing is useful for predicting
response to medications
(E) tilt table testing should be performed before
initiation of medical therapy
16. Anewborn baby presents with a heart rate of 45 beats
per minute (bpm), a normal blood pressure, and
good perfusion. The ECG rhythm strip is shown in
Figure 2-6. What is the diagnosis?
(A) rst-degree AV block
(B) second-degree AV block (type 1)
(C) second-degree AV block (type 2)
(D) third-degree AV block
(E) sinus bradycardia
(A) sinus tachycardia
(B) ventricular preexcitation
(C) ventricular tachycardia
(D) sinus rhythm
(E) sinus arrhythmia
11. Which statement is true regarding the diagnosis of
Wolff-Parkinson-White (WPW) syndrome?
(A) there is an increased risk of sudden cardiac death
(B) there is an increased risk of ectopic atrial
tachycardia
(C) there is an increased risk of tachycardia-
induced cardiomyopathy
(D) there is no risk of atrial brillation
(E) there is no increased risk for associated struc-
tural heart disease
12. Which of the following agents is considered rst-
line therapy for chronic control of orthodromically,
reciprocating tachycardia associated with ventricu-
lar preexcitation (WPWsyndrome)?
FIGURE 2-5.
P = p wave
FIGURE 2-6.
17. What is the most likely cause of congenital AV
block in newborns?
(A) maternal lupus
(B) maternal rubella
(C) maternal use of lithium
(D) maternal diabetes mellitus
(E) maternal use of alcohol
18. The patient from Question 16 subsequently devel-
ops signs of heart failure with poor perfusion and
tachypnea. What is the most appropriate long-term
therapy for this patient?
(A) pacemaker implantation
(B) digoxin
(C) theophylline
(D) atropine
(E) caffeine
19. A 10-year-old patient with history of palpitations
is found to have the ECG rhythm strip shown in
Figure 2-7. What is the most likely diagnosis of
the palpitations?
with acute arrhythmias in less than 5% of cases
when evaluated with long-term monitoring. Palpita-
tions associated with symptoms of dizziness or
syncope or in the setting of a family history of
arrhythmias or sudden cardiac death would increase
the suspicion of an underlying cardiac disorder.
Although the echocardiogram, stress test, and chest
radiograph are often used to exclude signicant car-
diac disease, they are unlikely to determine the spe-
cic etiology of the palpitations. In this situation, an
event recorder could be used to record an ECG
rhythm strip during symptoms. An event recorder is
a long-term monitoring device used for patients
with symptoms that occur infrequently.
2. (B) The ECG in Figure 2-1 shows normal sinus
rhythm with a premature ventricular contraction.
Premature ventricular contractions are a less com-
mon nding in young patients occurring with an
incidence of approximately 5-10%. They are usu-
ally benign; however, they may rarely be associated
with signicant heart disease. Therefore, the evalu-
ation often includes an echocardiogram or stress
test to assess for associated cardiac disease. Prema-
ture ventricular contractions that are not associated
with signicant heart disease do not require therapy
unless they are associated with signicant symp-
toms of discomfort or palpitations.
3. (C) The ECG in Figure 2-2 shows sinus tachycardia.
The more common etiologies of sinus tachycardia
at this age include anxiety or emotion, hyperthy-
roidism, anemia, postural orthostatic tachycardia
syndrome, and dehydration. It is the most common
cause of palpitations in young patients.
4. (D) The ECG in Figure 2-3 shows sinus arrhythmia.
This is a benign nding associated with an irregular
heart rhythm heard during auscultation. It may
vary with respiration and can be pronounced in
children. There is no association with signicant
heart disease.
5. (A) The ECG in Figure 2-4 demonstrates normal
sinus rhythm with a single premature atrial contrac-
tion. Premature atrial contractions are a common
benign nding in young patients occurring with an
incidence of approximately 17-25%. They are usually
not associated with signicant cardiac disease.
Because of the benign nature of the premature atrial
contractions, they do not require further investigation.
FIGURE 2-7.
(A) myocardial ischemia
(B) orthodromic reentry tachycardia
(C) ventricular arrhythmias
(D) premature atrial beat
(E) premature junctional beats
20. What are the known modes of inheritance for con-
genital long QT syndrome?
(A) autosomal recessive inheritance
(B) autosomal dominant inheritance
(C) spontaneous mutation
(D) all of the above
(E) it is not known
21. Which of the following medications is associated
with drug-induced long QT syndrome?
(A) propranolol
(B) amitriptyline
(C) metoclopramide
(D) amoxicillin
(E) ibuprofen
ANSWERS
1. (C) Palpitations are a common complaint in young
patients reported by 16% of patients in a survey at a
large primary care clinic. Palpitations are associated
6. (A) The most likely cause of supraventricular
tachycardia at this age is orthodromic, reciprocating
tachycardia because of an accessory bypass tract
(concealed in this case based on the normal
resting ECG). AV node reentry tachycardia is less
common at this age; however, this becomes the pre-
dominant mechanism of tachycardia in young
adults. Ectopic atrial tachycardia and atrial utter
occur with a low incidence throughout childhood.
Atrial utter is more commonly seen in patients
who have congenital heart disease.
7. (D) Acceptable therapy for orthodromic, reciprocat-
ing tachycardia that occurs because of a concealed
bypass tract includes DC cardioversion, IV adeno-
sine, or vagal maneuvers. Other antiarrhythmic
drugs such as calcium channel blockers can also be
used. The determination of which therapy is used is
based on the patients clinical status at the time of
presentation. In patients with stable tachycardia and
vital signs, vagal maneuvers or IV adenosine may
be rst-line treatment. In patients with unstable
tachycardia, DC cardioversion may be the rst-line
therapy. Of note, IVcalcium channel blockers are not
recommended for use in infants younger than 1 year
of age secondary to an increased risk for hypotension.
8. (B) First-line medical therapy for chronic treatment
of supraventricular tachycardia includes digoxin,
calcium channel blockers, and beta-blockers (eg,
atenolol). Amiodarone, ecainide, and sotalol are
all effective drugs for treatment of SVT but have a
higher incidence of side effects (proarrhythmia).
Thus they are usually reserved for cases that are
resistant to rst-line medications.
9. (D) Ectopic atrial tachycardia is a rare tachycardia
occurring with an incidence of approximately 10%
throughout childhood. In some cases of automatic
atrial tachycardia, the heart rate is only slightly
higher than sinus rhythm; thus the tachycardia may
go undetected for months to years. Patients with
ectopic tachycardia are at risk for ventricular dys-
function and heart failure. Unlike orthodromic,
reciprocating tachycardia and AV node reentry
tachycardia, ectopic atrial tachycardia arises from a
single atrial focus that does not depend on the AV
node. Therefore, adenosine, vagal maneuvers, and
DC cardioversion are ineffective. Appropriate acute
therapy includes IV beta-blockers, calcium channel
blockers, or amiodarone.
10. (B) The ECG in Figure 2-5 demonstrates ventricu-
lar preexcitation (short PR interval and slurred
upstroke of the QRS or delta wave) because of an
accessory bypass tract. When associated with
tachycardia, this is known as the Wolff-Parkinson-
White (WPW) syndrome. The incidence of WPW
syndrome is approximately 0.3%. The mechanism
of tachycardia is orthodromic, reciprocating tachy-
cardia similar to that in patients with concealed
bypass tracts.
11. (A) There is an increased risk of sudden cardiac
death (approximately 1 in 1000 patient-years) in
WPW syndrome. Sudden cardiac death occurs
because of rapid conduction over the accessory
bypass tract during atrial tachycardia resulting in
ventricular compromise. Patients with WPW syn-
drome are not at increased risk for ectopic atrial
tachycardia or tachycardia-induced cardiomyopa-
thy, but there is an increased incidence of atrial bril-
lation in this population.
12. (C) First-line chronic medical therapy for patients
with WPW syndrome includes beta-blockers or
other antiarrhythmic medications such as ecainide
or amiodarone. The use of digoxin and/or verapamil
is contraindicated in these patients because these
agents may potentiate rapid antegrade conduction
over the accessory pathway and may increase the
risk for sudden death.
13. (D) The most common etiology of syncope in
young patients is neurocardiogenic or vasovagal
syncope. This occurs in up to 20% of the popula-
tion. Other possibilities include neurologic (eg,
seizures), metabolic (eg, anemia, dehydration), or
cardiac (eg, arrhythmia) causes.
14. (D) Typical features of neurocardiogenic syncope
include preceding symptoms of nausea, dizziness,
diaphoresis, or blurred vision. The episodes are
related to position and usually occur when sitting or
standing. Loss of consciousness is brief and resolves
spontaneously. The other features mentioned are
suggestive of syncope because of a seizure.
15. (C) Tilt table testing (Figure 2-8) is a simple test used
to reproduce neurocardiogenic syncope. However,
the low sensitivity and specicity as well as the lack
of reproducibility of the test limit its usefulness. It is
usually reserved for difcult situations where the
etiology of syncope is uncertain. It is not recom-
mended for all patients with syncope and is not useful
for predicting response to medications.
16. (D) The ECG rhythm strip in Figure 2-6 demon-
strates third-degree AV block. This is dened as
complete dissociation of the atrial and ventricular
electrical activity.
17. (A) The most common cause of congenital com-
plete AV block is maternal lupus. The pathogenesis
is thought to be a result of maternal transfer of lupus
antibodies (anti-Ro or anti-La) to the fetus and sub-
sequent damage of the developing conduction sys-
tem. In patients with congenital AV block, the
chances of their mother having anti-Ro or anti-La
antibodies are approximately 60-70%. For mothers
with lupus, there is a 5% incidence of having a child
with complete AV block. Other causes of AV block
in the neonate include structural heart disease,
myocarditis, and metabolic disease.
18. (A) In patients with congenital AV block and symp-
tomatic bradycardia, the treatment of choice is
pacemaker implantation. No other therapy has been
shown to affect long-term outcome in these
patients. Medications are not consistently effective
for prevention of bradycardia and therefore are not
recommended for chronic therapy. Other indica-
tions for pacemaker implantation in patients with
complete heart block include a wide QRS escape
rhythm, a prolonged QT interval, an asymptomatic
infant with a heart rate less than 55 bpm, an asymp-
tomatic child with a heart rate less than 50 bpm, and
asymptomatic complete heart block with a heart
rate less than 75 bpm associated with congenital
heart disease.
19. (C) The ECG in Figure 2-7 demonstrates a pro-
longed QT interval. The QT interval is usually cor-
rected for heart rate (QTc) and normal limits vary
with age and gender. Palpitations associated with
this ECG would most likely be a result of a poly-
morphic ventricular tachycardia known as torsades
de pointes. The ventricular arrhythmia may be self-
limited or result in symptoms of dizziness, syncope,
or death. The occurrence of torsades de pointes is
associated with exercise or activity; however, in
some cases it may occur at rest.
20. (D) Congenital long QT syndrome is most com-
monly inherited in an autosomal dominant manner
(Romano-Ward). It is a result of a defect in 1 of 5
known genes that affect potassium and sodium ion
channels in the heart. A specic gene defect has
been identied in 50% of patients with clinical long
QT syndrome. A less common mode of inheritance
is autosomal recessive (Jervell and Lange-Nielsen
syndrome). In these patients, there is often associ-
ated conductive hearing loss and a higher risk for
ventricular arrhythmias and sudden death. Finally,
some cases of congenital long QT syndrome occur
because of spontaneous mutations. The risk for sud-
den death in patients with long QT syndrome who
present with symptoms of dizziness or syncope is
approximately 20% in 1 year, if untreated. The use
of beta-blockers decreases the risk of sudden death
to < 5%. Therefore, beta-blockers have become the
mainstay of therapy as well as avoidance of strenu-
ous activities, especially swimming. Pacemaker
implantation is occasionally required for patients
with either baseline bradycardia or those who
develop bradycardia following treatment with beta-
blockers. Implantable cardioverter debrillators are
now used more frequently in patients who continue
to become symptomatic despite medical therapy
with a beta-blocker or for those in whom there is a
strong family history of sudden death.
21. (B) Acquired long QT syndrome can occur with
head trauma, myocardial infarction, cardiomyopa-
thy, or as a result of drugs or medications. This list
of drugs/medications associated with the acquired
prolonged QT syndrome is extensive and updated
regularly. Some of the more common medications
on this list include amitriptyline or other tricyclic
antidepressants, erythromycin, and cisapride.
FIGURE 2-8. (Reproduced, with permission, from Prystowsky
EN, Klein GT. Cardiac Arrhythmias: An Integrated Approach for
the Clinician. New York: McGraw-Hill; 1994:353.)
SUGGESTED READING
CASE 3: A 7-YEAR-OLD CHILD
WITH A HEART MURMUR
A 7-year-old boy with no signicant past medical his-
tory is noted to have a heart murmur heard for the rst
time during a routine physical evaluation by his lifelong
pediatrician. The physical examination is signicant for
a grade 2/6 vibratory systolic murmur heard best at the
lower left sternal border with no radiation. The remain-
der of the physical examination is normal.
1. What is the most likely diagnosis of this heart
murmur?
(A) Still murmur
(B) ventricular septal defect
(C) atrial septal defect
(D) peripheral pulmonary stenosis
(E) venous hum
2. What supporting evidence would help to conrm
the diagnosis of an innocent Still murmur?
(A) a xed, split second heart sound
(B) the murmur is louder in the supine position
compared to the sitting or standing position
(C) a diastolic rumble
(D) the murmur is associated with a precordial
thrill (grade IV)
(E) radiation to the back and axilla
3. Which test would not be indicated for this patient at
this time?
(A) ECG
(B) echocardiogram
(C) chest radiograph
(D) cardiac catheterization
(E) four extremity blood pressure determination
4. What would be the appropriate advice to give the
family regarding a child with this murmur?
(A) endocarditis prophylaxis is needed
(B) rigorous sports should be avoided
(C) sports participation is allowable
(D) annual echocardiograms are required
(E) other family members should be screened for
heart disease
5. A 6-week-old infant presents with a heart murmur
and a history of poor feeding, diaphoresis, and
tachypnea. On examination, he is playful but
tachypneic with a grade 2/6 systolic regurgitant
murmur heard best in the mid left sternal border,
with hepatomegaly, rales, intermittent wheezes,
cool extremities with normal distal pulses, and an
active precordium. What is the likely diagnosis of
this patient?
(A) chronic lung disease
(B) acute upper respiratory infection
(C) congestive heart failure
(D) dehydration
(E) hyperthyroidism
6. Which test would not be helpful in evaluating this
patient?
(A) an echocardiogram
(B) an ECG
(C) a chest radiograph
(D) a throat culture
(E) a physical examination
7. What heart lesion is least likely to present with
congestive heart failure symptoms and signs at age
6 weeks?
(A) ventricular septal defect
(B) patent ductus arteriosus
(C) atrial septal defect
(D) aortopulmonary window
(E) large coronary artery stula
CASE 3 A 7-YEAR-OLD CHILD WITH A HEART MURMUR 11
8. Which feature may help to distinguish heart failure
from an anomalous left coronary artery arising from
the pulmonary artery versus heart failure secondary
to a ventricular septal defect?
(A) extreme irritability and crying at the onset of
feeding
(B) diaphoresis
(C) weight loss
(D) decreased frequency of wet diapers
(E) tachypnea
9. Which therapy would not be indicated for the acute
management of congestive heart failure because of
a left-to-right shunting lesion?
(A) digoxin
(B) oxygen supplementation
(C) dobutamine
(D) furosemide (Lasix)
(E) enalapril
10. A 2-year-old patient presents with symptoms of
heart failure. An echocardiogram demonstrates no
intracardiac lesion but a dilated, poorly functioning
left ventricle. What is the least likely cause of the
dilated cardiomyopathy in this patient?
(A) myocarditis
(B) metabolic disease
(C) idiopathic
(D) myocardial ischemia
(E) tachycardia-induced cardiomyopathy
11. Which of the following would be supportive evi-
dence of the diagnosis of myocarditis?
(A) an endomyocardial biopsy showing brosis
(B) an endomyocardial biopsy showing brosis
and inammation
(C) systolic ow murmur
(D) an S3 gallop on cardiac examination
(E) hepatomegaly
12. What is the most common cause of myocarditis?
(A) Staphylococcus aureus
(B) streptococcus infection
(C) Epstein-Barr virus
(D) enterovirus
(E) inuenza Avirus
13. Which of the following should be avoided for the
treatment of acute myocarditis?
(A) dopamine
(B) IV immunoglobulin
(C) supportive therapy with diuretics
(D) IV digoxin
(E) dobutamine
14. Which therapy would not be considered standard
management for patients with chronic congestive
heart failure?
(A) beta-blockers
(B) diuretics
(C) angiotensin-converting enzyme (ACE) inhibitors
(D) calcium channel blockers
(E) digoxin
15. A 7-year-old patient presents with heart murmur,
chest pain, and shortness of breath. The murmur is a
continuous type that varies in quality with position
changes. The patient seems to have relief when
sitting and leaning forward. The heart sounds are
distant. What is the likely diagnosis for this patient?
(A) pulmonary embolus
(B) pericarditis
(C) myocardial infarction
(D) gastroesophageal (GE) reux
(E) pleural effusion
16. What is the most common cause of this 7-year-olds
diagnosis among young patients in the United States?
(A) viral infection
(B) acute rheumatic fever
(C) bacterial infection
(D) collagen vascular disease
(E) drug induced
17. While in the ofce, the 7-year-old patient becomes
lethargic with poor perfusion and hypotension.
What is the most likely explanation?
(A) pulmonary embolus
(B) myocardial infarction
(C) stroke
(D) cardiac tamponade
(E) arrhythmia
ANSWERS
1. (A) The patient most likely has a Still murmur. This
is described as a vibratory or musical systolic ejec-
tion murmur occurring at the left sternal border with
no other associated cardiac ndings. It is the most
common innocent heart murmur in children and
usually presents at 2-7 years of age. Other innocent
murmurs include pulmonary outow tract murmur,
the peripheral pulmonary stenosis murmur of the
newborn, and a venous hum. The incidence of inno-
cent heart murmurs in young patients after infancy
is approximately 17-66%.
2. (B) Features of innocent heart murmurs include not
only the quality and location of the heart murmur
but also the fact that the rst and second heart
sounds are normal. The murmurs are usually well-
localized without much radiation and are usually
graded between 1 and 3 with no associated precor-
dial thrill. The murmurs are usually described as
vibratory, musical, or blowing, and they are louder
in the supine position compared with the sitting or
standing position. This is not the case with the inno-
cent venous hum that is often louder in the sitting
position. Avenous hum can be distinguished by the
great amount of variability in quality with position
changes and with turning the head. Innocent mur-
murs do not typically have a diastolic component. A
split, xed second heart sound is associated with an
atrial septal defect.
3. (D) Common tests performed in evaluation of inno-
cent heart murmurs include 12-lead ECGs, chest
radiographs, 4-extremity blood pressure (to rule out
coarctation of the aorta) and echocardiograms. The
use of these tests is at the discretion of the examin-
ing physician and depends on the ndings on phys-
ical examination as well as the past medical and
family history. An invasive procedure such as a car-
diac catheterization is usually not recommended for
evaluation of an innocent heart murmur if the tests
just listed have been normal.
4. (C) Innocent heart murmurs are not associated with
any increased risk for bacterial endocarditis; thus
prophylaxis is not needed. Sports participation is
not restricted because there is not an increase in car-
diac events associated with innocent heart mur-
murs. Innocent murmurs, by denition, are not
associated with structural heart disease, so yearly
echocardiograms are usually not recommended.
There is no familial association with structural heart
disease. Depending on the age at time of diagnosis,
a follow-up visit is occasionally recommended for
younger patients.
5. (C) The child presents with evidence of congestive
heart failure. In addition to the clinical ndings
described, other ndings associated with congestive
heart failure include edema, usually of the eyelids
or in dependent areas, jugular venous distention, an
S3 or S4 gallop on examination, and cardiomegaly or
pulmonary edema demonstrable on chest radiograph.
6. (D) Evaluation of a young patient with congestive
heart failure requires a physical examination to
assess for edema, hepatomegaly, pulmonary con-
gestion, and cardiac gallop. An echocardiogram is
used to assess cardiac function and any associated
cardiac structural abnormalities. A 12-lead ECG is
used to assess for any ischemic changes, arrhyth-
mias, or bradycardia. A chest radiograph is helpful
to assess for cardiomegaly or pulmonary edema as
well as to assess for any obvious primary pul-
monary disorders. A throat culture would not be
useful at this age for evaluation of heart failure.
7. (C) Cardiac lesions that present with heart failure at
this age are usually a result of an increase in the
amount of left-to-right shunting secondary to the
natural decrease in the pulmonary vascular resist-
ance. Common left-to-right shunting lesions
include a ventricular septal defect, a patent ductus
arteriosus, a large coronary artery stula, and an
aortopulmonary window. Atrial septal defects do
not usually present with heart failure at this age
mainly because the amount of left-to-right shunting
depends on the compliance of the right ventricle
rather than the drop in pulmonary vascular resistance.
8. (A) An anomalous left coronary artery arising from
the pulmonary artery is a rare congenital heart
defect. The right coronary artery arises normally
from the aorta. A number of collateral vessels
develop between the right and left coronary arteries,
and thus, when there is a drop of pulmonary vascu-
lar resistance, a steal phenomenon occurs with
coronary blood essentially owing from the aorta to
the right coronary artery across the collaterals to the
left coronary artery and into the pulmonary artery.
Because of this, certain areas of the myocardium are
at risk for ischemia. Patients with this lesion often
present at 6-8 weeks of age with extreme irritability
(especially at the onset of feeding) that is a result of
angina. Other symptoms such as diaphoresis,
weight loss, hepatomegaly, and decreased fre-
quency of wet diapers occur at a similar frequency
to other conditions associated with heart failure.
CASE 3 A 7-YEAR-OLD CHILD WITH A HEART MURMUR 13
9. (B) Acute management of heart failure because of
left-to-right shunting lesions include inotropic
support with digoxin, dopamine, dobutamine, or
epinephrine. Diuretics are also used to relieve
symptoms of edema. Milrinone is an inotrope and
afterload-reducing agent that is commonly employed
for the treatment of heart failure. Use of oxygen
may exacerbate symptoms of heart failure in the
presence of left-to-right shunting lesions by decreas-
ing pulmonary vascular resistance and increasing
the degree of left-to-right shunting. The ultimate
long-term therapy is to eliminate the left-to-right
shunting lesion either with surgery or interventional
cardiac catheterization.
10. (D) Myocardial dysfunction resulting in dilated
cardiomyopathy is uncommon in the pediatric popula-
tion. The causes include myocarditis, metabolic dis-
eases, idiopathic, familial dilated cardiomyopathy,
or tachycardia-induced cardiomyopathy. Ischemic
heart disease is a rare cause of dilated cardiomyopa-
thy at this age but is the most common cause in the
adult population.
11. (B) Myocarditis is dened as inammation of the
myocardium thought to occur because of a cell-
mediated immunologic reaction. The diagnosis is
conrmed by endomyocardial biopsy showing
brosis and inammation. A biopsy showing bro-
sis alone may be seen with any form of cardiomy-
opathy and is not specic for acute myocarditis.
Other features suggestive of myocarditis include
tachycardia out of proportion to the symptoms of heart
failure, cardiac dysfunction, a pericardial effusion,
and a preceding history of upper respiratory illness.
Asystolic ow murmur, hepatomegaly, and S3 gallop
may occur with myocarditis but are nonspecic
ndings for this diagnosis.
12. (D) The most common cause of myocarditis is
infection due to enterovirus (eg, coxsackievirus and
echovirus) as demonstrated by polymerase chain
reaction (PCR) of endomyocardial biopsies. Other
agents include other viruses (such as adenovirus and
epstein barr), bacteria, rickettsia, fungi, protozoa,
and parasites. Other etiologies include immune-
mediated diseases, toxic myocarditis, and collagen
vascular diseases.
13. (D) The acute management of myocarditis includes
the use of steroids, IV immunoglobulins, diuretics,
and inotropic support. Use of IV digoxin during the
acute phase of myocarditis is associated with
increased occurrence of arrhythmias and is thus typ-
ically not recommended. There are conicting data
regarding the efcacy of these therapies, and no sin-
gle therapy has shown to signicantly improve the
long-term outcome in patients with myocarditis.
Generally, most patients improve and have com-
plete recovery, although the acute mortality rate
may be as high as 75% in neonates.
14. (D) In patients with ventricular dysfunction and
chronic congestive heart failure, therapy includes
the use of diuretics and digoxin. The use of
afterload-reducing agents such as ACE inhibitors
has been shown to reduce morbidity and mortality.
The recent use of beta-blockers has been shown to
decrease myocardial oxygen demand and also
decreases morbidity and mortality among adults
with ventricular dysfunction. The use of calcium
channel blockers is not recommended because of the
signicant negative inotropic effect. The long-term
management for patients with ventricular dysfunc-
tion and heart failure includes medical therapy and
routine monitoring with exercises tests to obtain
objective data regarding cardiac performance.
15. (B) The most likely diagnosis of this patient is acute
pericarditis. This is dened as inammation of the
parietal and visceral pericardium and results in
serous hemorrhagic or purulent pericardial effusion.
The clinical manifestations include a pericardial
friction rub and the presence of a dull substernal
chest pain that improves when leaning forward.
There may be a history of upper respiratory tract
infection and fever.
16. (A) The most common agents causing pericarditis
in the United States are viruses. Acute rheumatic
fever is a common cause in certain parts of the world.
Other causes include bacterial infection, collagen
vascular disease, tuberculosis, oncologic disease,
and uremia.
17. (D) Cardiac tamponade is the most likely cause of this
patients acute decompensation. The clinical features
of cardiac tamponade include distant heart sounds,
tachycardia, pulsus paradoxus, hepatomegaly, venous
distention, and hypotension. The diagnosis can be
conrmed with an echocardiogram. Acute manage-
ment would include pericardiocentesis or surgical
drainage of the pericardial uid. Long-term manage-
ment is directed at the cause of the pericarditis.
Pulsus paradoxus is dened as a drop of 10 mm
Hg or more in the systolic blood pressure with
breathing. The normal variability of systolic blood
pressure with breathing (<10 mm Hg) results from
uctuation of left ventricular lling because intra-
pulmonary pressures vary with respiration. This
phenomenon is exaggerated with cardiac tampon-
ade and may also occur with pulmonary embolism,
obstructive respiratory disease, or hypotension.
SUGGESTED READING
2nd ed. Philadelphia: Hanley and Belfus; 2006.
CASE 4: A 5-YEAR-OLD CHILD
WITH A HEART MURMUR AND
FEVER
A5-year-old child presents to the clinic with a history of
fever, rash, a swollen knee and ankle, shortness of breath,
and fatigue. His past medical history is signicant for
the fact that he had a streptococcal throat infection 3
weeks prior to this visit but did not take the amoxicillin
that was prescribed. On physical examination, he has a
temperature of 38.9C. He has a grade 2/6 systolic
regurgitant murmur heard best at the apex and an S3 gal-
lop. He has hepatomegaly and good peripheral pulses.
1. What is the most likely diagnosis in this child?
(A) acute rheumatic fever
(B) infective endocarditis
(C) Kawasaki disease
(D) sickle cell disease
(E) sepsis
2. What is the most common cause of this disease?
(A) group Abeta-hemolytic streptococcal pharyngitis
(B) group Abeta-hemolytic streptococcal impetigo
(C) Staphylococcus aureus skin infection
(D) enterococcus infection
(E) inuenza Ainfection
3. What is the incidence of acute rheumatic fever fol-
lowing untreated streptococcal pharyngitis?
(A) 0.001%
(B) 0.3-3%
(C) 13-15%
(D) 25-33%
(E) 35-50%
4. Which heart vavle(s) is/are the most commonly
affected with acute rheumatic fever?
(A) mitral valve
(B) aortic valve
(C) tricuspid valve
(D) pulmonary valve
(E) B and D
5. Which of the following is not a major criterion for
the diagnosis of acute rheumatic fever?
(A) erythema marginatum
(B) carditis
(C) chorea
(D) arthralgias
(E) arthritis
6. Which statement is true regarding antibiotic therapy
for acute rheumatic fever?
(A) eradication of streptococci from the pharynx is
the goal
(B) penicillin prophylaxis for 1 year is required but
then can be stopped earlier if the patient is well
(C) penicillin prophylaxis can be given either twice
daily by mouth or once monthly by intramus-
cular (IM) injection
(D) oral sulfadiazine or tetracycline can be substi-
tuted for penicillin in patients who are peni-
cillin allergic
(E) oral cephalosporins can be substituted for peni-
cillin in patients who are penicillin allergic
CASE 4 A 5-YEAR-OLD CHILD WITH A HEART MURMUR AND FEVER 15
7. The heart murmur in this patient is most likely a
result of which of the following?
(A) mitral valve regurgitation
(B) mitral valve stenosis
(C) tricuspid valve regurgitation
(D) pulmonary valve regurgitation
(E) aortic valve stenosis
8. A2-year-old child presents with a 10-day history of
fever, a heart murmur, bilateral nonexudative con-
junctivitis, swollen and erythematous lips and
strawberry tongue with erythematous and edema-
tous hands and feet, and a polymorphous rash on the
face, trunks, and extremities. The most likely diag-
nosis in this patient is
(A) Kawasaki disease
(B) measles
(C) viral upper respiratory tract infection
(D) group Abeta-hemolytic streptococcal pharyngitis
(E) Hodgkin lymphoma
9. What acute nding would not be expected to be
associated with this 2-year-olds diagnosis?
(A) sterile pyuria
(B) hydrops of the gallbladder
(C) cervical adenopathy with at least one node
longer than 1.5 cm
(D) thrombocytosis
(E) Aand B
10. Which of the following statements is true regarding
coronary artery involvement with this 2-year-olds
disease?
(A) there is a 50% incidence of coronary artery
aneurysms if untreated
(B) the peak incidence for coronary artery
aneurysms is 6-12 months following the onset
of fever
(C) patients with giant coronary artery aneurysms
(>8 mm in diameter) are at highest risk for late
stenosis and myocardial infarction
(D) coronary artery rupture is the most common
cause of mortality within the rst 7 days of the
onset of fever
(E) coronary artery aneurysms are not at risk for
development of thrombus
11. The 2 drugs most commonly used for the acute
management of this disease are
(A) aspirin and intravenous immunoglobulin
(IVIG)
(B) penicillin and IVIG
(C) steroids and aspirin
(D) steroids and penicillin
(E) penicillin and aspirin
12. A 5-year-old boy presents with a fever of 10 days,
weight loss, night sweats, a new heart murmur,
splenomegaly, joint pains, and a history of having
had his teeth cleaned by the dentist 1 month prior to
this visit. On examination, he was found to have a
grade 2/4 diastolic murmur heard best at the mid-
left sternal border radiating to the apex. There is an
S3 gallop rhythm. What is the most likely diagnosis
for this patient?
(A) infective endocarditis
(B) juvenile rheumatoid arthritis
(C) Kawasaki disease
(D) acute rheumatic fever
(E) mononucleosis
13. Which of the following laboratory evidence most
likely supports the diagnosis of infective endocarditis?
(A) two positive blood cultures with the same
organism and no other source other than the
heart
(B) increased white blood cell count
(C) increased C-reactive protein (CRP)
(D) throat culture positive for group A beta-
hemolytic streptococcus
(E) increased erythrocyte sedimentation rate (ESR)
14. Which bacterial species would be the most common
cause of infective endocarditis in this 5-year-old
child?
(A) alpha-hemolytic streptococcus
(B) Staphylococcus aureus
(C) Staphylococcus epidermidis
(D) Enterococcus faecalis
(E) Bacteroides fragilis or other anaerobe
15. What percentage of cases of infective endocarditis
are blood culture negative?
(A) 10%
(B) 20%
(C) 30%
(D) 40%
(E) 50%
16. Which of the following heart lesions would not be
considered an increased risk for the development of
infective endocarditis?
(A) mitral regurgitation
(B) aortic insufciency
(C) aortic stenosis
(D) atrial septal defect
(E) ventricular septal defect
17. What is the most common antibiotic regimen that
should be started in cases of suspected infective
endocarditis before knowing the results of the blood
culture?
(A) vancomycin or oxacillin and gentamicin
(B) ampicillin and gentamicin
(C) ampicillin and ceftriaxone
(D) vancomycin alone
18. Which of the following procedures does not require
endocarditis prophylaxis in patients who are sus-
ceptible to endocarditis?
(A) tonsillectomy
(B) urinary tract surgery
(C) professional dental cleaning
(D) endotracheal intubation
(E) cardiac surgery
ANSWERS
1. (A) The most common cause of this constellation of
symptoms is acute rheumatic fever, a multisystem
inammatory disease. The disease occurs among
children 5 to 15 years of age with a peak inci-
dence at 8 years and is rarely seen in children
younger than 2 years of age.
2. (A) Acute rheumatic fever is triggered by group A
beta-hemolytic streptococcal infection of the upper
respiratory tract. Acute rheumatic fever does not
occur following streptococcal skin infections, staphy-
lococcal infections, or enterococcal infections. The
pathogenesis of rheumatic fever is thought to be sec-
ondary to an immune response to antigens in the M
protein of the capsule of the group A beta-hemolytic
streptococcus, which occurs in susceptible hosts and
cross-reacts with similar epitopes in human joint tis-
sue, heart, and brain tissue. Pathologic ndings
include inammatory lesions that include perivascu-
lar granulomas consisting of inltrates of cells and
brin that are also known as Aschoff bodies.
3. (B) The incidence of acute rheumatic fever is
approximately 0.3-3% in untreated patients with
Streptococcus pyogenes pharyngitis. The onset of
disease occurs 1-5 weeks later with a mean of 18
days following the onset of pharyngitis. The typical
course includes pharyngitis with improvement of
symptoms. Two weeks later the patient begins to
develop a low-grade fever and the inammatory
response of rheumatic fever.
4. (A)
5. (D) Although there is no specic diagnostic labora-
tory test for rheumatic fever, the diagnosis is based
on the Jones criteria. These are separated into major
and minor manifestations. Major criteria include
polyarthritis, carditis, erythema marginatum, subcu-
taneous nodules, and chorea. The most common
manifestation is polyarthritis occurring in up to 70%
of patients, typically a migratory arthritis involving
the large joints (knees, hips, ankles, elbows), which
characteristically responds dramatically to salicylate
therapy. Carditis occurs in approximately 50% of
cases and includes myocarditis, pericardial effu-
sions, arrhythmias, and valvular heart disease. Ery-
thema marginatum (Figure 4-1) occurs in less than
10% of patients and is a nonpruritic serpiginous rash
that occurs on the torso and is almost never seen on
the face. The rash is evanescent and becomes more
apparent following hot baths or being wrapped in
warm blankets. Subcutaneous nodules are non-
tender, freely mobile nodules occurring usually over
the bony surfaces of the elbows, wrists, shins, knees,
ankles, and spine. They occur in 2-10% of cases.
Chorea occurs in up to 15% of cases and is a neu-
ropsychiatric disorder that may include choreic
movements, hypotonia, emotional lability, anxiety,
and an obsessive-compulsive disorder. Chorea usu-
ally occurs late, after the initial pharyngitis with the
average time to onset of about 6-7 months. It may
last as long as 18 months. Recent evidence suggests
that chorea is associated with the presence of anti-
neuronal antibodies. Minor manifestations include
fever, arthralgias (when polyarthritis is not present),
increased acute phase reactants such as CRP, and a
prolonged PR interval on ECG (in the absence of
other evidence of carditis). The diagnosis of acute
rheumatic fever is made with either 2 major mani-
festations or with a single major manifestation and
2 minor manifestations. If made by 1 major manifes-
tation and 2 minors, the diagnosis should be sup-
ported by evidence of a preceding streptococcal
infection either by a positive throat culture or by
rising streptococcal antibody titers (eg, antistrep-
tolysin O). There are 3 exceptions to the Jones crite-
ria for diagnosis of acute rheumatic fever:
1. Chorea may be the only manifestation of rheu-
matic fever.
2. Indolent carditis may be the only manifestation
in patients following the initial infection.
3. Recurrences often do not strictly fulll the Jones
criteria. Therefore, a presumptive diagnosis of
recurrent rheumatic fever may be made with
fewer than the usual number of criteria. Recur-
rent disease should only be diagnosed if there is
supporting evidence of a recent streptococcal
infection.
for at least 5 days, no other reasonable etiology, and
4 of 5 of the following:
1. A nonexudative conjunctivitis that is usually
bilateral
2. Erythema of the lips, oral mucosa, and pharynx,
including a strawberry tongue and cracking or
peeling of the lips later into the disease
3. A polymorphous rash of the face, trunk, and
extremities that later can involve the perineal
area and is characterized by desquamation at 5-7
days (Figure 4-2)
4. Cervical adenopathy greater than 1.5 cm in
diameter that is usually unilateral
5. Changes in the extremities, including edema and
erythema of the hands and feet followed by periun-
gual desquamation at 11-25 days into the disease
FIGURE 4-1. Erythema marginatum. (Reproduced, with per-
mission, from Fuster V, ORourke RA, Walsh RA, et al. Hursts
the Heart. 12th ed. New York: McGraw-Hill; 2008:1694.)
6. (C) Treatment for acute rheumatic fever includes
therapy directed at the streptococcal infection with
penicillin followed by prevention of recurrences
with either twice-daily oral penicillin or once-
monthly IM benzathine penicillin injections.
Although some advocate prophylaxis to be contin-
ued at least until the patient is 21 years of age, others
recommend that prophylaxis be lifelong. In patients
who are penicillin allergic, prophylaxis can be sub-
stituted with either oral sulfadiazine or erythromy-
cin. Recurrences of acute rheumatic fever usually
occur within the rst 5 years after the initial diagno-
sis and are characterized by more severe cardiac
valve involvement. It is estimated that approxi-
mately 10-25% of patients with heart valve involve-
ment will have complete resolution by 10 years.
7. (A) The mitral valve is the most commonly affected
followed by the aortic valve and, rarely, the tricuspid
or pulmonary valves. Initially, the affected valves
develop regurgitation as a result of inammation
and valve dysfunction. However, with healing of
the inammation, long-term development of mitral
valve stenosis can occur. This may be seen as early
as 2-3 years following the acute episode but usually
occurs 10-20 years later.
8. (A) The child described most likely has Kawasaki
disease, an acute vasculitis of unknown etiology.
Kawasaki disease is the leading cause of acquired
heart disease in children in the United States. The
incidence ranges from 2-6/100,000 children and is
highest in Asian American children. The peak inci-
dence is at 1-2 years of age with 85% of the cases
occurring in children younger than 5 years of age.
The disease is uncommon in patients older than
8 years of age or younger than 3 months of age. The
clinical manifestations include the presence of fever
FIGURE 4-2. Kawasaki disease. Desquamation of the tissue of
the palm. (Reproduced, with permission, from Wolff K, Johnson
RA. Fitzpatricks Color Atlas & Synopsis of Clinical Dermatol-
ogy, 6th ed. New York: McGraw-Hill; 2009: Fig. 14-45.)
Incomplete Kawasaki disease can be diagnosed
when fever is present for 5 or longer days in the
presence of 2 to 3 of the preceding criteria when the
CRP is 3.0 mg/dL or more and/or the ESR is 40
mm/hour or more. In this instance, certain labora-
tory criteria should be met including hypoalbumine-
mia, anemia, increased serum alanine aminotrans-
ferase, thrombocytosis, leukocytosis, and sterile
pyuria.
9. (D) Other supportive ndings of the acute phase of
Kawasaki disease include urethritis with sterile
pyuria, aseptic meningitis, abdominal pain, hydrops
of the gallbladder, and arthritis that usually involves
the small joints but may involve the large joints
2-3 weeks into the disease. Also, mild carditis and
arrhythmias may occur. The subacute phase occurs
11-25 days following the onset of fever and is char-
acterized by a decrease in the rash and fever with
the onset of desquamation of the ngers and toes.
Thrombocytosis peaks at 2-4 weeks into the course
of the disease. It is during this phase that coronary
artery aneurysms usually become evident.
10. (C) Coronary artery aneurysms are the most feared
complication of Kawasaki disease and occur in up
to 15-25% of untreated patients (Figure 4-3). They
are a result of the panvasculitis resulting in aneurys-
mal transformation of the coronary arteries and may
be seen as early as 7 days after the onset of the
fever. Their incidence peaks at 3-4 weeks and they
are seldom found after 8 weeks into the course of
the disease. Giant aneurysms are described as hav-
ing a diameter greater than 8 mm and are associated
with increased mortality and morbidity. Patients
with aneurysms also have a higher incidence of
developing stenoses leading to myocardial ischemia
and infarction with long-term follow-up. Coronary
artery rupture is the most common cause of mortality
in the subacute phase; myocarditis, heart failure,
and arrhythmias are the most common causes of
mortality in the acute phase within the rst 10 days
after the onset of fever. Risk factors for the devel-
opment of coronary artery aneurysms include male
gender, age younger than 1 year, hemoglobin less
than 10 g/dL, white blood cell count greater than
30,000/mm
3
, ESR greater than 101 mm/hour, and
prolonged fever. Echocardiography is recommended
for assessment of coronary artery involvement with
Kawasaki disease. The most recent recommenda-
tions suggest that an echocardiogram is obtained at
diagnosis, and if no coronary disease is seen, then it
should be repeated in 6-8 weeks. If coronary artery
involvement is documented, then follow-up should
be more frequent based on the extent of disease.
11. (A) The management of Kawasaki disease includes
high-dose aspirin, which is given during the acute
phase, followed by low-dose aspirin for 6-8 weeks.
This is given for antithrombotic effect while throm-
bocytosis is present. IVIG is administered within
the rst 10 days of the disease at a dose of 2 g/kg
and may be repeated if fever persists following this
therapy. The use of IVIG decreases the incidence of
coronary artery aneurysms to less than 5%. If
aneurysms persist past 2 months, then aspirin or
other anticlotting agents should be continued. The
use of steroids is not indicated for uncomplicated
Kawasaki disease.
12. (A) The most likely diagnosis in this situation is
infective endocarditis. This is an inammatory dis-
order of the heart resulting from an infection. The
signs and symptoms of infective endocarditis
include acute ndings of fever, anorexia, weight
FIGURE 4-3. Parasternal short axis images (echocardiograms)
of cronan artery aneurysms associated with Kawasaki disease.
(Reproduced, with permission, from Fuster V, ORourke RA,
Walsh RA, et al. Hursts the Heart, 12th ed. New York: McGraw-
Hill, Fig. 55-38.)
A
B
loss, pallor, night sweats, myalgias, and new onset of
a heart murmur, usually as a result of valve disease
from infection. Later ndings result from embolic
phenomena and include splinter hemorrhages, Roth
spots (retinal hemorrhages), Janeway lesions, Osler
nodes, splenomegaly, clubbing, arthralgias, arthritis,
glomerulonephritis, and aseptic meningitis (Fig-
ure 4-4). The pathogenesis of infective endocarditis
results from the initial setting of a jet of blood or
turbulence within the heart leading to endothelial
damage and formation of a sterile clot or vegetation.
This serves as a nidus for bacterial infection.
FIGURE 4-4. (Reproduced, with permission, from Richard P. Usatine, MD. In Usatine RP, Smith MA, Mayeaux EJ Jr, et al. The Color
Atlas of Family Medicine. New York: McGraw-Hill; 2009.)
A Splinter hemorrhage.
B Conjunctival hemorrhage. D Janeway lesions.
C Osler nodes.
13. (A) The diagnosis of infective endocarditis can be
determined by
1. Pathologic evidence either by surgery or
embolectomy of an infected thrombus within the
heart.
2. Two positive blood cultures with the same organ-
ism with no other source other than the heart.
3. A clinical course compatible with infective
endocarditis.
Supportive evidence of endocarditis includes labora-
tory ndings of anemia, increased white blood cell
count, increased ESR or CRP, hematuria, decreased
complement component C3, and increased biliru-
binemia. The echocardiogram is useful for detecting
intracardiac vegetations. The type of echocardio-
gram performed, whether it be transthoracic or
transesophageal, depends on the age of the patient
and the ability to achieve good acoustic windows.
14. (A) The most common organism causing infective
endocarditis following dental procedures is Strepto-
coccus viridans. However, Staphylococcus aureus and
Staphylococcus epidermidis have become important
causes of infective endocarditis. Staphylococcus
aureus is now, overall, the leading cause. Enterococ-
cus spp. is also a common cause of endocarditis, par-
ticularly in adults. Among patients with burns or IV
drug abusers, staphylococci are the most common
causative organisms. Infants with sepsis are also at
higher risk for endocarditis with no underlying cardiac
disease.
15. (A) Up to 10% of cases of endocarditis are culture
negative. However, in 90% of cases, the causative
agent may be identied by obtaining at least 3 blood
cultures during the rst 24 hours of hospitalization.
16. (D) Valvular heart lesions are most commonly asso-
ciated with predisposition for the development of
infective endocarditis; however, other forms of con-
genital heart disease, including tetralogy of Fallot,
ventricular septal defect, patent ductus arteriosus,
coarctation of the aorta, and pulmonary valve steno-
sis, have also been implicated. Congenital heart
defects such as atrial septal defect, peripheral pul-
monary stenosis, and mitral valve prolapse without
mitral regurgitation are not considered to be high-
risk lesions for development of infective endocardi-
tis, and thus bacterial endocarditis prophylaxis is
not indicated in these situations.
17. (A) In patients with suspected infective endocardi-
tis, a course of either vancomycin or oxacillin and
gentamicin is started because the most likely organ-
isms include streptococci and staphylococci,
depending on the rate of methicillin-resistant S.
aureus in the patients geographic area. Once the
organism is identied, the antibiotic regimen can be
adjusted. Surgical intervention is occasionally
required for removal of foreign bodies that are dif-
cult to sterilize with IVantibiotics or repair of valves
that have been damaged by infection. Other compli-
cations associated with endocarditis include mycotic
aneurysms, localized cardiac abscesses, and autoim-
mune phenomena such as nephritis and arthritis.
18. (D) Procedures in which there is a risk for signi-
cant bacteremia would require bacterial endocardi-
tis prophylaxis. These procedures include dental
procedures where bleeding is anticipated, tonsillec-
tomy, cardiac surgery, incision of infected sites,
urologic surgery, and Foley placement in the pres-
ence of a urinary tract infection. Endotracheal intu-
bation is not associated with a high incidence of
bacteremia and thus antibiotic prophylaxis is not
required.
SUGGESTED READING
Newburger J, Takahashi M, Gerber M, et al. Diagnosis, treatment
and long-term management of Kawasaki disease. A statement
for health professionals from the Committee on Rheumatic
Fever, Endocarditis, and Kawasaki Disease, Council on Car-
diovascular Disease in the Young, American Heart Associa-
tion. Pediatrics. 2004;114:1708-1733.
CASE 5: A 10-YEAR-OLD BOY
WITH ELEVATED BLOOD
PRESSURE ASCERTAINED AT A
ROUTINE PHYSICAL
EXAMINATION
A10-year-old boy presents for a preparticipation sports
physical examination. He has previously been well
with no signicant past medical history. His vital signs
indicate a heart rate of 101 bpm and a blood pressure of
130/85 mm Hg (greater than the 95th percentile for age).
The remainder of his examination is normal.
1. What is the most appropriate next step?
(A) recheck the blood pressure with a smaller
blood pressure cuff
(B) recheck the blood pressure on at least 2 other
separate occasions before beginning further
evaluation
(C) begin medical therapy with antihypertensive
medications
(D) order a renal ultrasound
(E) check serum catecholamine levels
CASE 5 A 10-YEAR-OLD BOY WITH ELEVATED BLOOD PRESSURE ASCERTAINED AT A ROUTINE PHYSICAL 21
2. At this age, what is the most common cause of
hypertension?
(A) primary familial or idiopathic hypertension
(B) coarctation of the aorta
(C) renal artery thrombosis
(D) renal parenchymal disease
(E) adrenal hyperplasia
3. Renal parenchymal hypertension is caused by all
except which of the following mechanisms?
(A) salt retention
(B) water retention
(C) increased renin levels
(D) excess levels of catecholamines
(E) none of the above cause renal parenchymal
hypertension
4. On the third visit, the patient continues to demon-
strate evidence of systemic hypertension with ele-
vated blood pressure recordings. Of the following,
which is the most appropriate testing at this time?
(A) urinalysis
(B) serum catecholamine levels.
(C) renal CT scan
(D) urine 17-hydroxy steroids or 17-ketosteroids
5. Which of the following interventions would not be
recommended at this time?
(A) stop all exercise
(B) weight reduction
(C) stop tobacco use
(D) salt reduction
(E) all of the above should be recommended
6. Beta-blockers are useful for treatment of hyperten-
sion but are contraindicated in all but which of the
following?
(A) patients with asthma
(B) patients with diabetes
(C) hyperthyroidism
(D) bradycardia
(E) severe bee sting allergy
7. The patient returns with a hypertensive crisis with a
systolic blood pressure greater than 180 mm Hg and
a diastolic blood pressure greater than 110 mm Hg
associated with headache, vomiting, and pulmonary
edema. What is the most commonly used medica-
tion in this setting?
(A) nitroprusside sodium
(B) captopril
(C) phentolamine
(D) Aldactone
(E) clonidine
8. A 10-year-old child presents for a sports physical
examination. The examination and blood pressure
are completely normal. There is a family history of
hypercholesterolemia in his mother. What is the
most appropriate advice for this patient?
(A) total serum cholesterol should be evaluated
(B) total serum cholesterol and lipoprotein analysis
should be evaluated
(C) exercise stress test should be performed
(D) total serum cholesterol should be evaluated at
21 years of age
9. At what serum cholesterol level would lipoprotein
analysis be indicated?
(A) 120 mg/100 mL
(B) 140 mg/100 mL
(C) 180 mg/100 mL
(D) 200 mg/100 mL
(E) 220 mg/100 mL
10. Which of the following is not a common cause of
secondary hypercholesteremia in children?
(A) obesity
(B) isotretinoin
(C) oral contraceptive pills
(D) hyperthyroidism
(E) anorexia
11. What is the most common form of inherited
hyperlipidemia?
(A) familial hypercholesterolemia
(B) familial combined hyperlipidemia
(C) mild hypertriglyceridemia
(D) severe hypertriglyceridemia
12. Which of the following is a true statement regarding
the treatment for hypercholesterolemia in children?
(A) a Step 1 diet is recommended for children
younger than 2 years of age
(B) bile acid sequestrants are recommended for
children older than 10 years of age when diet
modication alone is not effective
(C) lovastatin may be used in selected cases for
children younger than 2 years of age
(D) none of the above
13. A 10-year-old child with physical features of tall
stature, a long thin face, scoliosis, pectus excava-
tum with a family history of sudden death at a
young age (an uncle who died while playing basket-
ball) presents for a preparticipation sports physical.
What is the likely diagnosis in this patient?
(A) Marfan syndrome
(B) hypertrophic cardiomyopathy
(C) Turner syndrome
(D) Down syndrome
(E) homocystinuria
14. What is the most common cardiac lesion associated
with this 10-year-olds diagnosis?
(A) mitral valve prolapse
(B) aortic stenosis
(C) coarctation of the aorta
(D) left ventricular outow tract obstruction
(E) atrial septal defect
15. An echocardiogram is ordered and demonstrates
mild aortic root dilation. What is the recommenda-
tion for further management?
(A) participation in sports is unrestricted
(B) follow-up echocardiogram in 10 years
(C) return to clinic only if symptoms of chest pain
occur during activities
(D) treatment with beta-blockers may decrease the
risk of further aortic root dilatation
(E) aortic root replacement
16. What ndings during routine pre-participation
physical examination would place a child at risk for
sudden death during sports?
(A) a harsh systolic murmur at the upper right ster-
nal border
(B) family history of diabetes
(C) respiratory sinus arrhythmia
(D) a single elevated blood pressure reading that
returns to normal on subsequent visits
(E) arm span less than height
ANSWERS
1. (B) Hypertension is dened as a systolic or diastolic
blood pressure recording greater than the 95th per-
centile for age and gender, recorded on 3 separate
occasions. Severe hypertension is dened as blood
pressure recordings greater than the 95th percentile
by 8-10 mm Hg. Accurate blood pressure record-
ings are crucial for this diagnosis and should be
taken in a quiet, nonthreatening manner. The width
of the blood pressure cuff should be 40-50% or
more of the arm circumference. Smaller blood pres-
sure cuffs result in erroneously high blood pressure
recordings. Ideally, blood pressure recordings
should be taken in all 4 extremities. Anxiety leading
to transient elevations in blood pressure (white coat
hypertension) accounts for up to 40% of elevated
blood pressure recordings in children. Because the
diagnosis of hypertension should not be based on a
single reading, medical therapy and testing for sec-
ondary causes of hypertension are not appropriate
during this rst visit.
2. (A) Hypertension is classied as either primary
(essential or idiopathic) or secondary. Primary
hypertension is the most common syndrome in
older patients such as this child, whereas secondary
hypertension is common in younger patients with
more severely elevated blood pressure recordings.
Ninety percent of secondary causes are because of
renal parenchymal disease, renal artery disease, and
coarctation of the aorta.
3. (D) Renal parenchymal hypertension causes salt
and water retention and in some cases elevated
renin levels leading to increased vascular resist-
ance. Increased serum catecholamine levels causing
hypertension are seen with pheochromocytomas or
with congenital adrenal hyperplasia (11-hydroxy-
lase deciency or 17-hydroxylase deciency).
Hypertension is also seen with use of certain drugs
or medications and in cases of hypercalcemia.
4. (A) The initial evaluation of hypertension is guided
by both the examination and the family history. The
important features of the history include a past med-
ical history of urinary tract infections, cardiovascu-
lar surgeries, weakness or cramps, medication use,
and tobacco use. Important features of the family
history include history of hypertension or prema-
ture heart disease. The important features of the
physical examination include accurate blood pres-
sure recordings in 4 extremities, assessment for
heart murmurs or bruits, assessment of peripheral
pulses, assessment of renal tenderness, and a thor-
ough eye examination. The usual initial laboratory
evaluation includes a urinalysis, serum electrolytes
including blood urea nitrogen (BUN) and creatinine,
and possibly a 12-lead ECG, chest radiograph, and
echocardiogram. A cholesterol level and a lipopro-
tein analysis are indicated in select cases. If there is
severe hypertension and end-organ involvement or
hypertension refractory to therapy, then tests evalu-
ating for secondary causes of hypertension can be
performed.
CASE 5 A 10-YEAR-OLD BOY WITH ELEVATED BLOOD PRESSURE ASCERTAINED AT A ROUTINE PHYSICAL 23
5. (A) Additional management in patients with hyper-
tension includes nonpharmacologic interventions
such as exercise proscription, weight reduction,
avoidance of tobacco or oral contraceptive pills,
and reduction of dietary salt intake. In severe hyper-
tension or persistent hypertension despite nonphar-
macologic interventions, pharmacologic agents are
often used that include diuretics, beta-blockers, and
vasodilators.
6. (C) Beta-blockers are often used in conjunction
with diuretics or in conditions where hyperthy-
roidism results in hypertension. However, they are
contraindicated for use in patients with asthma (can
precipitate bronchospasm), diabetes (prevents man-
ifestation of symptoms of hyperglycemia), and in
patients with bradycardia.
7. (A) A hypertensive emergency requires immediate
reduction of blood pressure usually within minutes
to hours. Hypertensive crises can be associated with
neurologic signs or congestive heart failure. Admin-
istration of parental medications is important for the
acute treatment of hypertensive emergencies.
These medications include diazoxide, nitroprusside
sodium, diuretics, IV nifedipine, hydralazine, or
labetalol. Phentolamine is usually reserved for
patients with pheochromocytomas.
8. (A) Hypercholesterolemia is a major risk factor for
coronary artery disease. Several long-term prospec-
tive studies have shown that lowering serum cho-
lesterol levels decreases the risk for coronary artery
disease in the future. This has prompted a more
aggressive approach to screening and therapy for
hypercholesterolemia in young patients. The current
recommendations for serum cholesterol screening
include the child of a single parent with a cholesterol
level greater than 240 mg/100 mL or if the history is
unobtainable but there is a suspicion of hypercho-
lesterolemia. The recommendations to perform a
serum cholesterol level and lipoprotein analysis
include children with parents or grandparents with a
history of coronary angioplasty or coronary artery
bypass surgery, men younger than 55 years of age,
women younger than 65 years of age, and children
with parents or grandparents with a documented
myocardial infarction among men younger than 55
years of age or women younger than 65 years of
age.
9. (D) Serum cholesterol levels can be measured in the
nonfasting state anytime after the age of 2 years. If
serum cholesterol levels are higher than 200 mg/dL,
lipoprotein analysis is indicated. Lipoprotein analy-
sis requires the patient to be fasting for 12 hours
before the testing.
LDL = (total serum cholesterol) (HDL)
(triglyceride concentration 0.2)
Low-density lipoprotein (LDL) levels <110 mg/dL,
in the presence of elevated cholesterol levels,
should be repeated in 5 years. If the LDL level is
110-129 mg/dL, a Step 1 diet is recommended. If
the LDLlevel is higher than 130 mg/dL, then a Step 1
or Step 2 diet is recommended with consideration of
medical therapy and further evaluation for secondary
causes of hyperlipidemia.
10. (D) Secondary causes of hyperlipidemia include
exogenous factors such as obesity, isotretinoin
use, oral contraceptive use
endocrine or metabolic diseases including
hypothyroidism
obstructive liver disease
renal failure
other factors including anorexia or a high-fat and
high-cholesterol diet
11. (B) Familial combined hyperlipidemia is the most
common etiology of inherited hyperlipidemias in
children. It occurs with an incidence of approxi-
mately 1 in 300 individuals and is inherited in an
autosomal dominant fashion. Laboratory analysis
reveals elevation of cholesterol and/or elevation of
triglyceride levels. The etiology of familial com-
bined hyperlipidemia is a result of an increased
apoB-100 production by the liver related to multiple
genetic factors. The clinical course is characterized
by late onset of coronary artery disease and periph-
eral vascular disease. Familial hypercholesterolemia
occurs in approximately 1 in 500 individuals and is
inherited in an autosomal codominant fashion. In
the heterozygous form, there are elevated serum
cholesterol levels and a high risk of premature
coronary artery disease. The etiology of the hyper-
cholesterolemia is a result of a decrease in the num-
ber of LDL receptors. In the homozygous form,
there is severe hypercholesterolemia with increased
risk of myocardial infarction. The etiology for
hypercholesterolemia is nearly complete absence of
LDL receptors. Mild hypertriglyceridemia is asso-
ciated with obesity, glucose intolerance, hyper-
uricemia, and increased alcohol intake. Severe
hypertriglyceridemia is a result of a deciency of
lipoprotein lipase and is associated with recurrent
pancreatitis, hepatosplenomegaly, and xanthomas.
12. (B) In patients with hypercholesterolemia, therapy is
not indicated for children younger than 2 years of age.
In children older than 2 years of age, initial treatment
includes the Step 1 diet recommended for approxi-
mately 3 months. If the serum cholesterol level
remains elevated, then a Step 2 diet is recommended
for 6-12 months. If the level continues to be elevated
and the child is older than 10 years of age with an LDL
higher than 190 or an LDLhigher than 160 and a fam-
ily history of hypercholesterolemia, then bile acid
sequestrants such as cholestyramine are the rst-line
choice of medical therapy. In selected cases, lovastatin
has been reported to be of benecial use. However, it
is currently not recommended for routine use.
13. (A) The patient in this scenario most likely carries
the diagnosis of Marfan syndrome, an autosomal
dominant genetic disorder due to a mutation in the
brillin gene on chromosome 15. This leads to
defective connective tissue disease. The clinical
features include a long thin face, tall stature with the
arm span greater than the height, pectus excavatum
or carinatum, scoliosis, lens subluxation, and high
arched palate (Figure 5-1). There is a family history
of Marfan syndrome in 70-85% of cases. Patients
with hypertrophic cardiomyopathy do not have the
physical stigmata described in this case, but it is an
important diagnosis in cases where there is a family
history of sudden unexpected death. Patients with
Turner syndrome have physical stigmata consistent
with short stature and webbed neck; patients with
Down syndrome also have short stature with char-
acteristic facial features.
14. (A) The most common heart lesions occurring in
patients with Marfan syndrome include mitral valve
prolapse and dilatation of the aortic root due to
abnormalities in the connective tissue as a result of
a mutation in the brillin gene. Aortic stenosis
because of a bicuspid aortic valve and coarctation
of the aorta are commonly seen in patients with
Turner syndrome, and left ventricular outow tract
obstruction may be seen in patients with severe
forms of hypertrophic cardiomyopathy. The typical
examination feature in a patient with mitral valve
prolapse includes a systolic ejection click that
varies in timing when the patient is standing versus
when he is squatting. A diastolic murmur of mitral
regurgitation may be heard in conjunction with
more severe cases of mitral valve prolapse.
15. (D) In patients with Marfan syndrome, participation
in activities is limited to mildly aerobic low-impact
sports. This is to avoid precipitation of further aor-
tic root dilation or rupture and to avoid retinal
detachment. It is recommended that patients with
Marfan syndrome undergo routine echocardio-
graphic evaluation to assess aortic root dilation as
well as routine ophthalmologic examinations. Beta-
blockers are effective to decrease the progression of
aortic root dilation.
16. (A) The American Heart Association recommends
that a preparticipation physical examination screen-
ing include obtaining a family history for sudden
cardiac death and a review of systems looking for a
history of dizziness or syncope. Physical ndings of
Marfan syndrome, hypertension, decreased periph-
eral pulses, or a pathologic murmur such as the
harsh systolic murmur described would indicate the
need for further evaluation. The nding of a family
history of diabetes, respiratory, sinus arrhythmia, or
a single elevated blood pressure returning to normal
at subsequent visits would not place this patient at
risk for sudden death during sports.
SUGGESTED READING
FIGURE 5-1. Pectus excavatum. (Reproduced, with permis-
sion, from Doherty G. Current Diagnosis & Treatment: Surgery,
13th ed. New York: McGraw-Hill; 2010: Fig. 43-4.)

Neonate Cardiology

Uploaded by

Document Information

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Neonate Cardiology

Uploaded by

Copyright:

Available Formats

CASE 1: A NEONATE WITH A

You might also like