American Heart Month Spotlight: Sudden Cardiac Arrest in Athletes

Melissa Holman, MS, CGC
February 28th, 2023

Earlier this year, the nation’s attention was captured by Damar Hamlin’s story after he collapsed on the field from sudden cardiac arrest (SCA) during Monday Night Football. After Hamlin’s collapse, teammates, fans and most of America watched as CPR was performed and he was taken to the hospital in an ambulance. In the days that followed, many watched the news closely, hoping for any positive update. Thankfully, due to timely intervention and a well-trained medical staff, he survived and was released from the hospital nine days later. In the meantime, stories of other athletes who had cardiac events on the field re-emerged into the engaged, collective audience.

While the cause of Hamlin’s SCA has not been released, it has brought a discussion of cardiac arrest into the spotlight. What are the potential causes of SCA? Why does it appear to be more common in athletes? What are the benefits and controversies surrounding screening athletes for heart disease? What role does genetic testing play?

Although it is statistically rare, SCA is emotional and frightening. According to the National Collegiate Athletic Association (NCAA), “Sudden fatality from a heart condition remains the leading medical cause of death in college athletes.” (1) It is important for athletes at all levels of competition to participate in screening in an attempt to reduce their risk of SCA.

Cardiac disease can result from both environmental and genetics influences. One potential cause of SCA is a blow to the chest at a very precise moment in the rhythm of the heart. If the impact occurs with an exact force, in an exact place, and at an exact time during the heartbeat, an erratic heartbeat (arrhythmia) can result; this is called commotio cordis. Commotio cordis is a relatively common cause of SCA among athletes; however, there are many other potential causes, including underlying hereditary heart abnormalities.

The most common hereditary cause of heart disease in US athletes is hypertrophic cardiomyopathy (HCM). HCM occurs when the walls of the heart become thick and stiff. Over time, the heart is no longer able to pump blood efficiently. Rigorous exercise can also lead to a thickened heart wall, and differentiating between exercise-induced wall thickening (which is harmless) and HCM (which requires further investigation) can be difficult to evaluate through clinical evaluation alone. Health care providers tasked with the evaluation of athletes can end up in a tough spot. On the one hand, an incorrect diagnosis of HCM could lead to unnecessary exclusion from athletics, where many athletes find camaraderie, physical well-being and self-identity. In addition, an incorrect diagnosis could lead to unneeded, costly medical evaluations and emotional distress. On the other hand, missing an underlying diagnosis of HCM could have devastating consequences, such as cardiac arrest.

This is where genetic testing can provide helpful information. If an athlete has a borderline increased ventricular wall thickness, or a family history suggestive of inherited heart disease, a genetic diagnosis could provide more certainty. A thorough clinical examination and family history are key in addition to genetic counseling and testing.

Other potentially hereditary causes of heart disease in athletes include aortic dissection/rupture (including Marfan syndrome), atherosclerotic coronary artery disease, hereditary arrhythmias (such as long QT syndrome) and arrhythmogenic right ventricular cardiomyopathy. All these conditions are associated with underlying genetic components that have implications for the athlete’s diagnosis, management and treatment, as well as potential recommendations for family members health care planning.

Genetic testing for inherited cardiac conditions can help confirm a diagnosis when the clinical picture is unclear and can provide prognostic information about the potential severity of disease, triggers of cardiac events and exercise restrictions. Genetic testing is recommended by many professional societies including the American Heart Association and the American College of Cardiology, among others (2, 3). Genetic testing is widely available and has decreased in cost dramatically over the last few years but is still underutilized in cardiology. Awareness is still growing in the medical and sports communities, with events such as this serving as a catalyst for important conversations.

While we may not ever learn the exact cause of Damar Hamlin’s SCA (4), we can remain hopeful that the national attention and conversations generated by his experience will positively impact the safety of athletes through CPR education, AED access and awareness and screening for underlying heart disease.

Footnotes:

1. Cardiac health. NCAA.org. (2023). Retrieved February 13, 2023, from https://www.ncaa.org/sports/2021/2/10/sport-science-institute-cardiac-health.aspx
2. Musunuru K, et al. Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2020 Aug;13(4):e000067.
3. Writing Committee Members et al. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2020 Dec 22;142(25):e558-e631
4. News outlets continue to update his story. Here are two: CBS News shared when he was released from the hospital. https://www.cbsnews.com/news/damar-hamlin-update-buffalo-bills-injury-nfl-condition-news/ As of the publishing of this blog, speculation on the impacts to his career were being shared by USA Today. https://www.usatoday.com/story/sports/nfl/bills/2023/02/28/damar-hamlin-update-bills-still-evaluating-his-health-playing-future/11364792002/

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Author

Melissa Holman, MS, CGC

Melissa Holman is a certified genetic counselor and Cardiology & Rare Disease Genomic Science Liaison at Ambry Genetics. She completed her BS in Genetics with a minor in Psychology at Clemson University and received her Masters of Science in Genetic Counseling from Virginia Commonwealth University. After graduate school, Melissa worked for several years as a genetic counselor in South Bend, Indiana. In 2019 she moved to Winston Salem, NC and transitioned to her current role at Ambry Genetics. As a Genomic Science Liaison, she serves as a clinical liaison for the field team to educate health care providers and other key opinion leaders on genetic testing and genomic medicine.

Co-authors

Jessica Gage, MS, CGC

Jessica Gage is a Specialty Genomic Science Liaison at Ambry Genetics for the West Coast and Midwest Regions. She completed her Bachelor of Science in Biology at Penn State University and her Master of Science in Genetic Counseling at California State University- Stanislaus. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Jessica is a licensed genetic counselor by the California Department of Health and is board-certified by the American Board of Genetic Counseling.

Carrie Horton, MS, CGC

Ms. Horton received her M.S. in Genetic Counseling from Arcadia University and practiced clinically as a cancer genetic counselor in Memphis, TN prior to joining Ambry Genetics 6 years ago. As a reporting genetic counselor at Ambry, she performed variant assessment, generated reports for oncology tests, and curated clinical literature for report content. In her current role as Sr. Clinical Research Specialist, she designs and conducts studies focusing on the translational application of Ambry's research. Ms. Horton's research interests include improving the clinical utility of and increasing access to genetic testing.

Catherine Schultz, MS, CGC

Catherine holds a BS in Biology from the College of Charleston and an MS in Genetic Counseling from the University of Alabama at Birmingham. Her career began as a multidisciplinary genetic counselor in Birmingham, AL, where she gained substantial clinical experience. In 2016, Catherine joined Ambry Genetics as a Genomic Science Liaison, where she excelled in her role by providing education to healthcare providers on genetic testing and the application of genomic medicine. In her current role, Catherine oversees the medical strategy for rare diseases. Her responsibilities include engaging with key opinion leaders in the medical and scientific community, fostering advancements in novel testing methodologies, and enhancing the clinical utility of existing tests.

Tami Johnston, MS, LCGC

Tami Johnston graduated from Tulane University with a B.S. in Cell and Molecular Biology and received her M.S. in Genetic Counseling from California State University, Northridge. She began her career at Alfigen, The Genetics Institute, where she worked in both clinical and laboratory settings. She spent several years as a Laboratory Genetic Coordinator at Genzyme Genetics prior to joining Ambry Genetics. At Ambry, she started in General Genetics Reporting before transitioning to Cardiology Reporting and currently manages the Cardiology Reporting Genetic Counseling team. Tami is a member of the National Society of Genetic Counselors (NSGC) and is board certified by the American Board of Genetic Counseling (ABGC). In addition, she is a member of the ClinGen Cardiomyopathy Variant Curation Expert Panel. She is passionate about cardiovascular genetics and promoting organ donation.

Meghan Towne, MS, CGC, LCGC

After obtaining her B.S. in biology with a minor in chemistry from Boston College in 2007, Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital developing the institutional infrastructure for gene discovery, enhancing research collaborations, and evaluating the utility of genomic sequencing in newborns. In 2016, Meghan joined Ambry as a reporting genetic counselor on the clinical genomics team. She maintains her research connections to the Boston community by serving as a voting member of the Massachusetts General Hospital IRB and as a course coordinator for research seminar series at Boston University.

Margo Gallegos, MS, LCGC

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and licensure of genetic counselors both at the state and federal level. Margo received her Bachelors of Science degree in Cell Biology and Genetics from University of Maryland, College Park. She earned her Masters of Science degree in Genetic Counseling from University of South Carolina School of Medicine and is certified by the American Board of Genetic Counseling.

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