Sudden cardiac death in a young male endurance athlete. 2023

Kevin D Seely, and Kentlee B Crockett, and Andrew Nigh
College of Osteopathic Medicine, Rocky Vista University, Ivins, UT, USA.

Sudden cardiac death (SCD) is a rare yet devastating event that can occur in young athletes. Although hypertrophic obstructive cardiomyopathy is the most common cause of SCD, some other genetic abnormalities have been identified as proarrhythmic. However, there is not routine screening for these other genetic abnormalities. Furthermore, consumption of caffeine, stimulant medication, or prolonged exercise can potentiate the underlying arrhythmic potential. In the event of SCD, advanced cardiac life support (ACLS) should be performed immediately and exactly. The authors present a case of an otherwise healthy young male who collapsed during a marathon and could not be resuscitated despite aggressive measures. After aggressive resuscitative efforts, the patient ultimately expired. A postmortem autopsy revealed no cardiac structural abnormalities, and the cause of death was determined to be cardiac arrhythmia of undetermined etiology. Postmortem genetic testing revealed a heterozygous variation in calcium voltage-gated channel auxiliary subunit beta 2 (CACNB2), a gene associated with arrhythmia and calcium channelopathy. Toxicology showed therapeutic levels of amphetamine. This case highlights the eminent risk of cardiac death in young athletes with proarrhythmic genetic variations, especially in the setting of endurance sport.

UI MeSH Term Description Entries
D008297 Male Males
D002118 Calcium A basic element found in nearly all tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. Coagulation Factor IV,Factor IV,Blood Coagulation Factor IV,Calcium-40,Calcium 40,Factor IV, Coagulation
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013177 Sports Activities or games, usually involving physical effort or skill. Reasons for engagement in sports include pleasure, competition, and/or financial reward. Athletics,Athletic,Sport
D015444 Exercise Physical activity which is usually regular and done with the intention of improving or maintaining PHYSICAL FITNESS or HEALTH. Contrast with PHYSICAL EXERTION which is concerned largely with the physiologic and metabolic response to energy expenditure. Aerobic Exercise,Exercise, Aerobic,Exercise, Isometric,Exercise, Physical,Isometric Exercise,Physical Activity,Acute Exercise,Exercise Training,Activities, Physical,Activity, Physical,Acute Exercises,Aerobic Exercises,Exercise Trainings,Exercise, Acute,Exercises,Exercises, Acute,Exercises, Aerobic,Exercises, Isometric,Exercises, Physical,Isometric Exercises,Physical Activities,Physical Exercise,Physical Exercises,Training, Exercise,Trainings, Exercise
D016757 Death, Sudden, Cardiac Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005) Cardiac Sudden Death,Sudden Cardiac Death,Cardiac Arrest, Sudden,Sudden Cardiac Arrest,Arrest, Sudden Cardiac,Cardiac Arrests, Sudden,Cardiac Death, Sudden,Death, Cardiac Sudden,Death, Sudden Cardiac,Sudden Death, Cardiac
D056352 Athletes Individuals who have developed skills, physical stamina and strength or participants in SPORTS or other physical activities. College Athletes,Elite Athletes,Professional Athletes,Athlete,Athlete, College,Athlete, Elite,Athlete, Professional,Athletes, College,Athletes, Elite,Athletes, Professional,College Athlete,Elite Athlete,Professional Athlete

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