Screening for Serious CV Diseases in Children and Adolescents: Does...

Updated:Jul 10,2014

Screening for Serious Cardiovascular Diseases in Children and Adolescents: Does the evidence Support Going Forward AND Are We Able to "Pull It Off"?

Disclosure: Dr. Berger has nothing to disclose.
Pub Date: Monday, April 30, 2012
Author: Stuart Berger, MD, FAHA, FACC, FAAP, FHRS


Mahle WT, Sable CA, Matherne PG, Gaynor JW, Gewitz MH; on behalf of the American Heart Association Congenital Heart Defects Committee of the Council on Cardiovascular Disease in the Young. Key concepts in the evaluation of screening approaches for heart disease in children and adolescents: a science advisory from the American Heart Association. Circulation. 2012: published online before print April 30, 2012, 10.1161/CIR.0b013e3182579f25.

Article Text

There is a growing interest in screening approaches for neonates, infants, children and adolescents in order to unmask serious, life-threatening undiagnosed cardiovascular diseases.  Identification of individuals who either have critical congenital heart disease or who are at risk for sudden cardiac death, before a catastrophic presentation occurs, has the potential to reduce morbidity and mortality.  This assumes that an intervention could be instituted prior to the catastrophic event but also that key concepts are met in the screening process.  The very important AHA Science Advisory entitled “Key Concepts in the Evaluation of Screening Approaches for Heart Disease in Children and Adolescents” addresses these very issues.1

The AHA statement1 is an important summary statement with regard to where we are in 2012 in screening patients for serious cardiovascular diseases.  The controversy with regard to ECG screening as a supplement to the physical examination in order to diagnose occult anatomic and electrical substrates for sudden cardiac death still exists.  Several scientific statements and advisory groups have weighed-in on this topic,2 as discussed in the AHA Science Advisory Statement.1  Yet the data with regard to the effectiveness of mass ECG screening are not entirely clear.  Though seemingly more sensitive and specific than the pre-participation history and physical examination,3 the screening ECG did reduce sudden cardiac death in athletes in Italy4 but not in Minnesota5 or in Israel.6  Logistic issues related to mass ECG screening will continue to require assessment and creative solutions.  The logistic issues include cost, establishment of normal ECG values in a multi-ethnic population, the variable rate of false positives and its costs, both financial and psychological and assuring the accuracy of the interpretation of the studies.  And we should make it very clear, as has the AHA Scientific Advisory Statement,1 that we should not focus the screening process on competitive athletes only but rather on all children and adolescents.   Interestingly the recent meta-analysis published by Rodday, et al7 suggested an evidence-basis for evaluating pediatric screening with ECG, alone or with ECHO.  This study concluded that ECG was a sensitive test for mass screening, with a negative predictive value that was high, but with a variable positive predictive value and false-positive rate. This study suggested that, on this basis, that mass ECG screening may not be “ready for prime time.”

This AHA Science Advisory Statement1 also elucidated the importance of pulse oximetry in the timely diagnosis of critical congenital heart disease in the newborn.  Multiple studies have provided insight into the strengths and weaknesses of pulse oximetry with the conclusion that this technique indeed is an important and effective methodology for screening for critical congenital heart disease in the newborn.8-11

Perhaps as importantly, this AHA Science Advisory1 has discussed the importance of ongoing evidence-based research in order to monitor the outcomes of new and existing screening strategies.  A rigorous assessment of these approaches is critical.  New screening programs, including mass ECG screening, must be based on sound and evidence-based principles rather than a reaction to catastrophic events.  One would certainly encourage pilot screening programs in order to establish a database to collect comprehensive information.  The comprehensive collection of data would allow for a better understanding of many of the facets related to sudden cardiac death including a better understanding of the true incidence, as well as the incidence and impact of false positives, for example.  So, although mass ECG screening may indeed not be “ready for prime time” in 2012, perhaps a mandatory registry with the comprehensive collection of selected data would allow us to answer many unanswered questions with regard to sudden cardiac death.  In so doing, additional data might not only allow for an understanding of the true incidence of congenital heart disease but also allow us to understand other nuances with regard to the successes or failures of the various screening strategies heretofore.

This paper also briefly discusses the optimal role of governmental agencies in this arena.  As the paper has stated, the role of government in mandatory resource-consuming programs in which costs may not be shared equally amongst beneficiaries is somewhat controversial.  Most importantly the advocacy for a comprehensive, science-based preliminary analysis of screening hypotheses and analyses is critical.  The example of the expansion of the newborn program with the addition of pulse oximetry screening for critical congenital heart disease fulfills the criteria of science-based preliminary analysis and appropriately won the endorsement at the federal government level, after an extended deliberate and evidence-based process.

This AHA Science Statement is beautifully written and gets to the crux of many of the key concepts in the evaluation of screening approaches targeted towards children and adolescents.  The mutual goal is the prevention of morbidity and mortality.  In the evaluation of screening methodologies it is critical to assess the data as well as the feasibility of the approach at hand in an evidence-based manner.  Such is where we currently are with regard to ECG screening for sudden cardiac death.  Though the data does not yet exist to support mass ECG screening this could change in the future but only via an evidence-based process that analyzes the data much like the process that was carried forth with regard to pulse oximetry for critical congenital heart disease.  We look forward toward this future of evidence-based analyses and strategies to reduce morbidity and mortality including secondary prevention strategies.  Two final separate but related important points:

  1. If an evidence-based analysis ultimately will support the effectiveness of mass ECG screening, the logistic barriers, as discussed above and elsewhere, must still be conquered.  These barriers include costs, establishment of normal values, a system of accurate analysis of the studies by the appropriate workforce and a system for dealing with the logistics and financial and psychological costs of false positives.  Therefore this logistic framework in the United States must be established if the evidence-based data ultimately supports this strategy.  Currently, neither clear-cut evidence in support of the efficacy of mass ECG screening nor a system to carry this out in the United States exists.
  2. This author believes that a mandatory registry, requiring the reporting of all cases of sudden cardiac arrest, and its details, is important and will allow us to answer many of the currently unanswered questions with regard to sudden cardiac arrest and sudden cardiac death in children and adolescents.12


  1. Mahle WT, Sable C, Matherne PG, et al.  Key Concepts in Evaluation and Screening Approaches for Heart Disease in Children and Adolescents:  A Science Advisory from the American Heart Association.  Circulation. 2012;125::00-00.
  2. Maron BJ, Thompson PD, Ackerman MJ, et al.  American Heart Association Council on Nutrition, Physical Activity and Metabolism.  Recommendations and considerations related to preparticipation screening for cardiovascular abnormalities in competitive athletes:  2007 update: a scientific statement from the American Heart Association Council on Nutrition, Physical Activity and Metabolism:  endorsed by the American College of Cardiology Foundation.  Circulation.  200; 115:1643-1655.
  3. Fuller CM, McNulty CM, Spring DA, et al.  Prospective screening of 5,615 high school athletes for risk of sudden death.  Med Sci Sports Exerc.  1997;29:1131-1138
  4. Corrado D, Basso C, Pavei A.  Trends in sudden cardiac death in young competitive athletes after implementation of a preparticipation screening program.  JAMA.  2006:296:1593-1601.
  5. Maron BJ, Haas TS, Doerer JJ, et al.  Comparison of U.S. and Italian experiences with sudden cardiac deaths in young competitive athletes and implications for preparticipation screening strategies.  Am J Cardiol.  2009;104:276-280.
  6. Steinvil A, Chuindadze T, Zeltser D, et al.  Mandatory electrocardiographic screening of athletes to reduce their risk for sudden death: proven fact or wishful thinking?  J Am Coll Cardiol. 2011;57:1291-1296.
  7. Rodday AM, Triedman JK, Alexander ME.  Electrocardiographic screening for disorders that cause sudden cardiac death in asymptomatic children:  a meta-analysis.  Pediatrics.  2012; Apr;129(4):e999-e1010. Epub 2012 Mar 5.
  8. de-Wahl Granelli A, Wennergren M, Sandberg K, et al.  Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease:  A Swedish prospective screening study in 39,821 newborns.  BMJ.  2009;338:a3037.
  9. Riede FT, Worner C, Dahnert I, et al.  Effectiveness of neonatal pulse oximetry for detection of critical congenital heart disease in daily clinical routine:  results from a prospective multicenter study.  Eur J Pediatr.  2010; 169:975-981.
  10. Ewer AK, Middleton LJ, Furmston AT, et al.  Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx):  a test accuracy study.  Lancet.  2011; 378:785-794.
  11. Kemper AR, Mahle WT, Martin GR, et al.  Strategies for implementing screening for critical congenital heart disease.  Pediatrics.  2011; 128:e1259-e1267.
  12. Kaltman JR, Thompson PD, Lantos J, et al.  Screening for sudden cardiac death in the young:  report form a National Heart, Lung and Blood Institute Working Group.  Circulation.  2011; 123:1911-1918.
-- The opinions expressed in this commentary are not necessarily those of the editors or of the American Heart Association --

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