Preventing Pediatric Sudden Cardiac Death: Where Do We Start?

Robert M. Campbell and Stuart Berger

Pediatrics 2006;118;802-804
DOI: 10.1542/peds.2006-0564

The online version of this article, along with updated information and services, is
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COMMENTARY
Preventing Pediatric Sudden Cardiac Death: Where
Do We Start?
Robert M. Campbell, MDa, Stuart Berger, MDb
aChildren’s Healthcare of Atlanta Sibley Heart Center, Emory University School of Medicine, Atlanta, Georgia; bChildren’s Hospital of Wisconsin-Herma Heart Center,
Milwaukee, Wisconsin
The authors have indicated they have no financial relationships relevant to this article to disclose.
F IRST STEPS FIRST. Good medical practice begins with
good history. The details of a disciplined, compre-
hensive patient and family history may provide the first
clues to a patient-specific medical diagnosis that directs a
patient-specific medical treatment. Patient and family
history is critical for diagnosing diseases that cause pe-
diatric sudden cardiac death (SCD).
Pediatric SCD is uncommon. It is estimated that 500
to 1000 pediatric patients ⬍21 years old will suffer SCD
each year in the United States.1 However, each event is
absolutely devastating to parents, families, neighbors,
communities, and health care providers. Could the
death have been prevented? Could the diagnosis have
been made before the fatal event?
The differential diagnosis for causes of pediatric SCD
includes anatomic and structural abnormalities of the
heart (eg, hypertrophic cardiomyopathy, single right
coronary artery with anomalous course of the left coro-
nary between the aorta and pulmonary artery, arrhyth-
mogenic right ventricular cardiomyopathy, etc), primary
electrical cardiac disorders (including long QT syndrome,
Brugada syndrome, catecholaminergic polymorphic
ventricular tachycardia, short QT syndrome), stimulant
use (eg, cocaine, ephedra), and trauma (commotio cor-
dis). Importantly, because many of these disorders are
genetic, the identification of a first-affected family mem-
ber may unravel extensive family involvement.
The impact of genetic evaluation was detailed re-
cently in 2 publications. Tan et al2 reported on the diag-
nostic yield of cardiac and genetic examination in sur-
viving relatives of probands with SCD. Examination of
relatives of SCD victims allowed identification of the
disease in 40% of the families and in 8.9 presymptomatic
causes per family. In addition, Tester et al3 reported new
insights obtained from a “molecular autopsy.” Genetic
802 CAMPBELL, BERGER
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analysis of DNA extracted from postmortem blood and
tissue samples identified novel mutations in ryanodine
receptor/calcium-release channels, which supported the
idea that catecholaminergic polymorphic ventricular
tachycardia was the cause of death.
The first suggestion that a patient or family may be
affected with one of the disease processes predisposing to
SCD is often obtained from a patient/family history. In a
busy clinic, at first glance, it may seem difficult to prior-
itize time for a comprehensive, accurate patient and
family history. However, these details cannot be ignored.
It is estimated that ⬃40% of pediatric patients who
suffer an SCD event may have unrecognized or under-
appreciated warning symptoms. Specifically, patients
should be questioned about the history of syncope or
seizure during exercise, emotion, or startle; extreme fa-
tigue associated with exercise (different from other chil-
dren); and/or unusual or extreme shortness of breath
during exercise, often mimicking exercise-induced bron-
chospasm. Family issues include sudden, unexpected,
unexplained death before the age of 50 (including sud-
den infant death syndrome, car accidents, or drowning);
family members with unexplained syncope or seizures;
congenital deafness; pacemakers or automatic implant-
Abbreviation: SCD, sudden cardiac death
Opinions expressed in this commentary are those of the authors and not necessarily those
of the American Academy of Pediatrics or its Committees.
www.pediatrics.org/cgi/doi/10.1542/peds.2006-0564
doi:10.1542/peds.2006-0564
Accepted for publication Mar 1, 2006
Address correspondence to Robert M. Campbell, MD, Sibley Heart Center Cardiology, 2835
Brandywine Rd, Suite 300, Atlanta, GA 30341. E-mail: campbellr@kidsheart.com
PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). Copyright © 2006 by the
American Academy of Pediatrics
able cardioverter defibrillators; and/or a known family
history of any of the conditions that predispose to SCD.
Phrasing questions about patient/family history is also
critical. Using questions such as “tell me about any mem-
ber of your family who has . . .” places the responsibility
on the parents and family to research the answers rather
than simply providing immediate, and possibly incom-
plete, responses.
Patients or families regarded as at higher risk for SCD
on the basis of positive responses to these questions
should be referred to a pediatric cardiologist, who is
trained in the diagnosis of diseases causing SCD, for a
thorough evaluation. The diagnosis of these rare disor-
ders is often extremely difficult and may require exten-
sive testing, including genotyping, for certain disorders.
Nearly all Americans believe that family health
knowledge is important, but only one third of families
have written a family medical history to share with their
relatives. In November 2004, the US Surgeon General
launched a family-history initiative. A computerized
checklist (available at: www.hhs.gov/familyhistory/
download.html) can help families organize their history,
especially during family gatherings.
The American Academy of Pediatrics, American
Academy of Family Physicians, American College of
Sports Medicine, American Medical Society of Sports
Medicine, American Orthopedics Society of Sports Med-
icine, and American Osteopathic Academy of Sports
Medicine recently endorsed a standardized preparticipa-
tion athletic evaluation form (available at: www.aap.
org/sections/sportsmedicine/spmedeval.pdf). Questions
5 through 14 on this standardized form deal with issues
of cardiovascular risk assessment. To successfully screen
for cardiovascular risk, these questions must be admin-
istered carefully. Families must understand the impor-
tance of obtaining accurate, detailed information as this
portion of the form is completed.
We propose the development of a standardized car-
diovascular risk-assessment form, which could be used
by any provider, for any child, at any age, at any time
(see Appendix). Identification of possible cardiovascular
risk need not be obtained only during times of athletic
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preparticipation. Although many pediatric SCD events
are associated with activity, they are not isolated to high
school or college athletes. Infants and elementary
school– and middle school–aged patients still succumb to
pediatric SCD and, likewise, should be screened. A form
that includes pertinent cardiovascular risk-assessment
questions could be administered at periodic intervals
during the well-child continuum. Patients or families
deemed at higher risk because of positive responses on
this questionnaire should be referred for thorough car-
diovascular evaluation.
In summary, the first steps to preventing pediatric
SCD include attention to the details of a comprehensive,
disciplined patient/family history. Warning signs should
be recognized and respected. The use of a standardized
preparticipation evaluation form directs a comprehen-
sive patient/family history. The development and wide-
spread use of a cardiovascular risk-assessment form
would allow evaluation of any patient at any time. Any
patient with positive findings on patient and family his-
tory should be considered for referral to a pediatric car-
diologist for comprehensive evaluation. Continuing
medical education about the causes of pediatric SCD as
well as the warning signs and management strategies
should continue for all providers including pediatricians,
family practitioners, pediatric cardiologists, and emer-
gency department physicians, as well as families and
school staff.
If we reemphasize the basics of good medicine (the
patient and family history), we will be on the way with
the first steps to preventing pediatric SCD.
REFERENCES
1. Berger S, Kugler JD, Thomas JA, Friedberg DZ. Sudden cardiac
death in children and adolescents: introduction and overview.
Pediatr Clin North Am. 2004;51:1201–1209
2. Tan H, Hofman N, van Langen I, van der Wal A, Wilde A.
Sudden unexplained death: heritability and diagnostic yield of
cardiological and genetic examination in surviving relatives.
Circulation. 2005;112:207–213
3. Tester D, Kopplin L, Creighton W, Burke A, Ackerman M.
Pathogenesis of unexplained drowning: new insights from a
molecular autopsy. Mayo Clin Proc. 2005;80:596 – 600
PEDIATRICS Volume 118, Number 2, August 2006 803
 APPENDIX PEDIATRIC SUDDEN CARDIAC DEATH RISK ASSESSMENT FORM

To assess the risk of sudden cardiac death, ask these questions (or have parents complete this form) at periodic well-child visits: neonatal, preschool, before and
during middle school, and before and during high school.
Note for healthcare providers: When reviewing this form with parents/families, use phrases such as, “Tell me about any family member who
has . . .”
Yes No
Patient history questions
Has your child fainted or passed out DURING exercise, emotion, or startle?
Has your child fainted or passed out AFTER exercise?
Has your child had extreme fatigue associated with exercise (different from other children)?
Has your child ever had unusual or extreme shortness of breath during exercise?
Has your child ever had discomfort, pain, or pressure in his/her chest during exercise or complained of his/her heart “racing or skipping
beats?”
Has a doctor ever told you that your child has high blood pressure, high cholesterol, a heart murmur, or a heart infection? (If “yes,” check
which one[s])
Has a doctor ever ordered a test for your child’s heart?
Has your child ever been diagnosed with an unexplained seizure disorder or exercise-induced asthma?
Family history questions
Are there any family members who had a sudden, unexpected death before age 50 (including from sudden infant death syndrome [SIDS],
car accident, drowning, or others)?
Are there any family members who died suddenly of “heart problems” before age 50?
Are there any family members who have had unexplained fainting or seizures?
Are there any relatives with certain conditions such as:
Hypertrophic cardiomyopathy (HCM)
Dilated cardiomyopathy (DCM)
Aortic rupture or Marfan syndrome
Coronary artery atherosclerotic disease (heart attack, age 50 years or younger)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Long QT syndrome (LQTS)
Short QT syndrome
Brugada syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Primary pulmonary hypertension
Pacemaker or implanted cardiac defibrillator
Congenital deafness (deaf at birth)
Please explain any “yes” answers here:

804 CAMPBELL, BERGER

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 Preventing Pediatric Sudden Cardiac Death: Where Do We Start?
Robert M. Campbell and Stuart Berger
Pediatrics 2006;118;802-804
DOI: 10.1542/peds.2006-0564
Updated Information including high-resolution figures, can be found at:
& Services http://www.pediatrics.org/cgi/content/full/118/2/802
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