ACC/AHA Release Recommendations For Congenital and Genetic Heart Disease Screenings in Youth

Health care professionals should use a 14-element checklist when evaluating healthy, young individuals ages 12-25 for congenital and genetic heart disease vs initial screening using electrocardiograms (ECGs), according to a new scientific statement released by the ACC and the American Heart Association and published in the Journal of the American College of Cardiology.

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  • The recommended 14-element screening checklist includes assessing young people for findings on the physical examination, including heart murmurs, and for any history of unexplained fainting, exertional chest pain, or excessive shortness of breath or fatigue during exercise. It also includes questions about family history of premature death or disability due to heart disease or known cardiac conditions involving the heart muscle or heart rhythm before age 50 in one or more family members. The checklist also questions whether an individual has been restricted from participation in sports in the past or has had prior testing for the heart ordered by a health care provider.

    The statement authors note that 12-lead ECGs may in some cases detect congenital heart disease that can lead to sudden cardiac death, and should be used when a health care provider has determined a young person may be at higher risk for a heart abnormality based on family history, physical examination and other parts of the 14-element questionnaire. They add that health care providers may find that other tests, such as echocardiograms, would be helpful in some individuals as well.

    However, the authors stress that use of ECGs to detect underlying congenital and genetic heart disease in this group prior to employing the checklist has not been shown to save lives. There is currently insufficient evidence to conclude that mandating screening of either competitive athletes or the general young U.S. population with a 12-lead ECG would save lives, they said. In addition, the value of the test varies based on the expertise of those interpreting the test. For example, assessing pediatric ECGs can be particularly difficult, because the ECG changes with growth and development, and the expertise required is not widely available. 

    “Although sudden death among young people is rare, it is always a tragedy, and the infrequency of these events in no way mitigates their importance or impact on families and the community. However, the media coverage of sudden cardiac arrests in athletes may have created the exaggerated impression that these tragic events are far more common than they actually are, or that they are limited to athletes,” said Barry J. Maron, MD, FACC, chair of the writing panel for the statement and director of the Hypertrophic Cardiomyopathy Center at the Minneapolis Heart Institute Foundation.

    Barron explains that those who do not sign up for sports are just as likely to have the genetic heart diseases that raise the risk for sudden death. “Since there are by far more non-athletes — only about 1 percent of college students and 30 percent of high school students participate in competitive sports — there are more deaths in non-athletes participating in recreational sports and normal daily activities,” he said.

    The statement also advocates for broader dissemination of automatic external defibrillators in public gathering places, such as sports arenas and schools moving forward, as they can be highly effective in saving young lives on the athletic field or elsewhere, when cardiac arrest does occur.

    The 14-Element Cardiovascular Screening Checklist for Congenital and Genetic Heart Disease:

    Personal history:

    1. Chest pain/discomfort/tightness/pressure related to exertion
    2. Unexplained syncope/near-syncope*
    3. Excessive exertional and unexplained dyspnea/fatigue or palpitations, associated with exercise
    4. Prior recognition of a heart murmur
    5. Elevated systemic blood pressure
    6. Prior restriction from participation in sports
    7. Prior testing for the heart, ordered by a physician

    Family history:

    1. Premature death (sudden and unexpected, or otherwise) before age 50 attributable to heart disease in ≥1 relative
    2. Disability from heart disease in close relative <50 y of age
    3. Hypertrophic or dilated cardiomyopathy, long-QT syndrome, or other ion channelopathies, Marfan syndrome, or clinically significant arrhythmias; specific knowledge of certain cardiac conditions in family members

    Physical examination:

    1. Heart murmur**
    2. Femoral pulses to exclude aortic coarctation
    3. Physical stigmata of Marfan syndrome
    4. Brachial artery blood pressure (sitting position)***

    *Judged not to be of neurocardiogenic (vasovagal) origin; of particular concern when occurring during or after physical exertion.
    **Refers to heart murmurs judged likely to be organic and unlikely to be innocent; auscultation should be performed with the patient in both the supine and standing positions (or with Valsalva maneuver), specifically to identify murmurs of dynamic left ventricular outflow tract obstruction.
    ***Preferably taken in both arms.

    Keywords: Athletes, Students, Cardiomyopathy, Hypertrophic, Syncope, Sports, Blood Pressure, Electrocardiography, Checklist, Mortality, Premature, Marfan Syndrome, Surveys and Questionnaires, Channelopathies, Physical Exertion, Death, Sudden, Cardiac, Valsalva Maneuver, Defibrillators, Health Personnel, Auscultation, Dyspnea, Heart Diseases, Chest Pain, Heart Murmurs, Cardiomyopathy, Dilated

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