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Q: "I am a mother of two teenagers who are heavily involved in sports. I keep hearing about young athletes dying from undiagnosed heart issues. Should I be having my sons tested? If so, what tests should they take?"

A: The short answer to your question is that you should make sure that your primary care provider and team physician are aware of the current recommendations for screening athletes prior to participation in competitive sports.
The longer answer requires a little background on this important topic. The occurrence of a sudden unexpected death in young individuals in general, and healthy high school athletes in particular, is a devastating occurrence. The relative rarity of this event does not lessen the tragic impact it has on the family and community. Because a significant proportion of these events are due to undiagnosed heart disease, there has been a great deal of attention directed to the best approach to preventing their occurrence.
It is important to realize sudden death in this population is quite rare, as the actual incidence in athletes is probably in the range of 1 in 200,000 per year. Cardiac causes include familial hypertrophic cardiomyopathy in 35% of cases, congenital abnormalities of the coronary arteries in 17%, genetic anomalies of the ion channels in the heart predisposing to arrhythmias in 3% (most commonly an entity known as Long QT syndrome) and a variety of other heart disorders. There are often clues that an asymptomatic individual has one of these relatively rare conditions related to certain symptoms or aspects of the family history. Because of this, the American Heart Association and American College of Cardiology, and endorsed by the Academy of Family Practice and American Academy of Pediatrics, have developed specific recommendations for the preparticipation cardiovascular screening of competitive athletes.
The most important elements of these recommendations include obtaining a careful medical history looking for symptoms such as exertional chest pain, dizziness or syncope as well a history of elevated blood pressure. A family history should assess whether there have been premature cardiac deaths or disability in individuals less than 50 years of age. It is critically important to determine whether any family members carry certain diagnoses such as Marfan syndrome, Long QT or cardiomyopathy. During the physical exam, it is essential to look for abnormal blood pressure, pathologic murmurs, poor femoral pulses or stigmata of connective tissue disorders such as Marfan syndrome.
If the above screening by history and physical exam detect any "red flags", further testing with EKG's and echocardiograms should be done. It remains very controversial whether screening EKG's should be done on all participants as part of the process. Expert consensus panels in this country have not recommended that these tests be done in the absence of specific concerns. They point out that mass screening with EKG's could be potentially deleterious to many athletes because of "false positive" or borderline findings in up to 25% of tracings that would lead to extensive, expensive and unnecessary further testing and possible disqualification from participation.
Lee Beerman, M.D.
Gaurav Arora, M.D.
Pediatric Electrophsiology
Children's Hospital of Pittsburgh of UPMC
(412) 692-6254

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