Sudden Cardiac Death in Young Athletes

Editor’s Note:  This post originally appeared on the blog of Dr. Howard J. Luks. Dr. Luks  wrote this blog entry in collaboration with HCM expert Dr. Srihari S. Naidu of New York’s Westchester Medical Center. You can find the original post here.  You can find both Dr. Luks and Dr. Naidu on Twitter @hjluks and @SrihariNaiduMD.

Sudden cardiac death in young athletes continues with alarming frequency.  The most common cause of sudden death in the young athlete is hypertrophic cardiomyopathy or HCM.  Simply put, HCM means the heart muscle is bigger.  Many of us believe that bigger muscle means stronger muscle.  That is not always the case with the heart.  The heart is a mechanical pump with a complex arrangement of chambers which store the blood. How that pump works is controlled by a very complex electrical system.  Hypertrophic cardiomyopathy can interfere with one or both of these critical functions of the heart and lead to sudden cardiac death.

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Computer Algorithms Used to Diagnose HCM

A study published yesterday in the Journal of the American College of Cardiology demonstrated the usefulness of computer algorithms in distinguishing hearts with HCM from athlete’s hearts on echocardiogram.  The computer algorithms were able to automatically classify the echocardiographic images by distinguishing between changes seen in hypertrophic cardiomyopathy  and changes seen in athletes’ hearts due to athletic conditioning.

Dr. Partho P. Sengupta, who authored the study, said that this technology may prove to be a useful tool in recognizing and diagnosing HCM for those who lack the experience to distinguish these conditions on echocardiogram.

 

 

Lack of Diversity in Gene Samples May Cause False HCM Diagnosis

 

A recent study published in The New England Journal of Medicine concluded that individuals of African descent found to carry genes previously identified with HCM did not, in fact, have the disease.  Thus, the article highlighted the importance of including diverse populations when sequencing genomes for genetic diseases so as to avoid false diagnoses.

The New York Times also picked up this story, focusing its article on the negative repercussions that can result from a false positive genetic test for HCM.

In connection with the findings, National Public Radio interviewed three people, including Dr. Isaac Kohane, one of the researchers who published the findings of the lack of diversity in the HCM genetic panel, as well as New York City HCM patient Tarika Mingo.  Finally, NPR spoke to veteran HCM expert Dr. Barry Maron, who noted a potential concern that athletes may have been erroneously disqualified from sports participation solely on the basis of false positive genetic testing results.

See also this story in the Wall Street Journal.

Do Elite Athletes Provide Clues About HCM?

 

During the Olympics we all gather around our television sets to watch the best athletes in the world compete against each other and we wonder how it is that they can humanly perform at such a high level?

This feature story about Stanford HCM Clinic’s Dr. Euan Ashley provides us with an interesting overview of the research Dr. Ashley is doing on high performance elite athletes with the hope that their genes may provide clues that will one day help to help treat those of us with HCM and other genetic heart conditions.

HCM Top Cause of Death in Male Athletes

 

HCM is the most frequent cause of death in male athletes according to a soon to be published study analyzing competitive athlete causes of death between 1980 and 2011.  

More than 1/3 of deaths were due to HCM, which was almost four times more common in males than females. Deaths in minorities were almost 5 times greater than in whites.

The complete study will be published in October in The American Journal of Medicine.