PEDIATRICS Vol. 118 No. 2 August 2006, pp. 802-804 (doi:10.1542/peds.2006-0564)
COMMENTARY |
Preventing Pediatric Sudden Cardiac Death: Where Do We Start?
a Children's Healthcare of Atlanta Sibley Heart Center, Emory University School of Medicine, Atlanta, Georgia
b Children's Hospital of Wisconsin-Herma Heart Center, Milwaukee, Wisconsin
Abbreviations: SCD, sudden cardiac death
First steps first. Good medical practice begins with good history. The details of a disciplined, comprehensive 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 pediatric 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 coronary between the aorta and pulmonary artery, arrhythmogenic 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 cordis). Importantly, because many of these disorders are genetic, the identification of a first-affected family member may unravel extensive family involvement.
The impact of genetic evaluation was detailed recently in 2 publications. Tan et al2 reported on the diagnostic yield of cardiac and genetic examination in surviving 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 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 prioritize 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 underappreciated warning symptoms. Specifically, patients should be questioned about the history of syncope or seizure during exercise, emotion, or startle; extreme fatigue associated with exercise (different from other children); and/or unusual or extreme shortness of breath during exercise, often mimicking exercise-induced bronchospasm. Family issues include sudden, unexpected, unexplained death before the age of 50 (including sudden infant death syndrome, car accidents, or drowning); family members with unexplained syncope or seizures; congenital deafness; pacemakers or automatic implantable 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 member of your family who has..." places the responsibility on the parents and family to research the answers rather than simply providing immediate, and possibly incomplete, 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 disorders is often extremely difficult and may require extensive 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 Medicine, and American Osteopathic Academy of Sports Medicine recently endorsed a standardized preparticipation 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 administered carefully. Families must understand the importance of obtaining accurate, detailed information as this portion of the form is completed.
We propose the development of a standardized cardiovascular 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 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 cardiovascular 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 comprehensive patient/family history. The development and widespread 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 history should be considered for referral to a pediatric cardiologist 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 emergency 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.
 |
APPENDIX |
|---|
 TOP APPENDIX REFERENCES |
|---|
|
|
FOOTNOTES |
|---|
Accepted 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{at}kidsheart.com
The authors have indicated they have no financial relationships relevant to this article to disclose.
|
REFERENCES |
|---|
|
TOPAPPENDIXREFERENCES |
|---|
- 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[CrossRef][Web of Science][Medline]
- 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
[Abstract/Free Full Text] - 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
[Abstract/Free Full Text]
PEDIATRICS (ISSN 1098-4275). ©2006 by the American Academy of Pediatrics
CiteULike 
Connotea 
Del.icio.us 
Digg 
Facebook 
Reddit 
Technorati 
Twitter What's this?
This article has been cited by other articles:
|
|
 |
|
  J. Conway, K. K. Wong, C. O'Connell, and A. E. Warren Cardiovascular Risk Screening Before Starting Stimulant Medications and Prescribing Practices of Canadian Physicians: Impact of the Health Canada Advisory Pediatrics, October 1, 2008; 122(4): e828 - e834. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Hofman, H. L. Tan, S.-A. Clur, M. Alders, I. M. van Langen, and A. A. M. Wilde Contribution of Inherited Heart Disease to Sudden Cardiac Death in Childhood Pediatrics, October 1, 2007; 120(4): e967 - e973. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. M. Campbell and S. Berger Preventing Pediatric Sudden Cardiac Death: In Reply Pediatrics, February 1, 2007; 119(2): 408 - 409. [Full Text] [PDF]
|
|
|
|
|
|
S. M. Yabek Preventing Pediatric Sudden Cardiac Death Pediatrics, February 1, 2007; 119(2): 407 - 408. [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
