Researchers reported to the Journal of the American Medical Association that routine electroencephalographs as a part of preparticipation physical exams “could reduce sudden cardiac death in young athletes.”  This statement made after studying sudden deaths in young athletes between the years of 1985 and 1995, they found that 85% of the sudden deaths were caused by some type of heart related abnormality.

Of these abnormalities found, Hypertrophic Cardiomyopathy (HCM), was the most common disorder.  HCM is a congenital heart disease that causes thickening in the wall of the left ventricle and can lead to electrical problems of the heart and possible arrhythmias. 

The challenge of this disorder is that there often are no signs or symptoms  until an event occurs.  If quality emergency measures are not provided immediately (CPR and AED), the athlete may not recover.

“So, if the athlete has no history of shortness of breath, chest pain, or exertional cardiac symptoms associated with exercise, how can these types of sudden deaths be prevented?”  The article goes on to say that this is a controversial topic in the sports medicine community for a long time especially when media attention focuses on the increase of sudden cardiac deaths in our youth. 

The other study fueling a medical debate is the study performed by Italy over 27 years ago.  The country of Italy mandated the nationwide use of a 12-lead ECG as a part of perparticipation screening  for all athletes.  They followed each participant for 25 years.  Their results showed a 89% reduction in the incidence of sudden cardiac death due to the screening they provided.

So, you might ask, why don’t we have this mandate for ECG’s in our country?  There are pro’s and con’s depending on who you talk to. 

• Cost/logistics
• Limited time,equipment, and personnel
• False positives
• Health insurance coverage
• Other solutions such as AED access

In a perfect world (without financial and personnel limitations), the addition of ECG tests as part of the pre-participation exam would ensure that at-risk athletes would be indentified and referred for advanced cardiac tests. 

No matter how you look at it, ECG’s could reduce the rate of sudden cardiac death in young athletes.

Championship Hearts Foundation offers both an ECG and ECHO at their free heart screenings.  The next heart screening is scheduled on July 31st, 2010 at The Heart Hospital of Austin (3801 N. Lamar Blvd) from 8:00 am to 12:oo noon.

According to an October 21st, 2009 “brief report” in the Journal of American Medical Association (JAMA), a 23 year old male who had no personal knowledge of underlying heart disease repeatedly donated sperm over a 2-year period (1990-1991).  This donor underwent standard testing that was negative for infectious diseases.

JAMA goes on to say “several years later, an offspring was diagnosed with HCM, which triggered the notification to all known recipients of this donor’s sperm that an inherited form of heart disease could have been transmitted to their children.”  As a result, genetic testing was offered first to the donor and later to the offspring.

Twenty-two children are known to have been products of this sperm donation.  Of these, 16 have been tested for the Arg169Gly mutation (associated with HCM) and 8 were positive.  Eight other offsprings were tested and were negative.

However, 3 of these “positive” offspring had major health problems:  2 year old offspring died of HCM with intractable heart failure, 2 offspring had massive LV hypertrophy, as well as the donor with extensive myocardial fibrosis. 

The donor also had two children conceived with his wife, one of these children tested positive for HCM. 

The comment by doctors working on this case study remarked that they are aware of only one other documented instance in which a genetic disease was transmitted to an offsping by sperm donation.

While the FDA has regulated donor eligibility and sperm banks for compliance with the guidelines offered by the American Society of Reproductive Medicine and the American Association of Tissue Banks, its regulations for sperm banks have focused disproportionately on communicable diseases and not toward the detection of inherited cardiovascular diseases. 

Available screening guidelines rely largely on obtaining a family history which is a strategy not likely to be particularly effective for those with HCM.  HCM rarely has symptoms.

The answer from this group of physicians:  Provide the public with information about this issue and instituting the possibility of screening strategies for donors to prevent future undesirable propatigation of genetic cardiovascular diseases such as HCM.