June 25, 2024

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Up to 80% of athletes who die suddenly have no symptoms of heart disease or family history

Up to 80% of athletes who die suddenly have no symptoms of heart disease or family history


Up to 80% of athletes who die suddenly have no symptoms of heart disease or family history, study finds

On June 16, 2022, the European Journal of Preventive Cardiology, part of the European Society of Cardiology (ESC), published recommendations on how genetic testing can be used to prevent sudden cardiac death in athletes and enable safe exercise.

Author Dr Michael Papadakis of St George’s, University of London, UK said:

“Genetic testing for potentially lethal variants is more readily available than ever, and this document focuses on which athletes should be tested and when.

Athletes should be counseled on potential outcomes prior to genetic testing, as this Could mean being excluded or restricted from playing.”


Up to 80% of athletes who die suddenly have no symptoms of heart disease or family history


In most cases, clinical evaluation will determine the need for preventive treatment, such as a defibrillator, and recommendations for exercise and participation in competitive sports.

“Even if a genetic abnormality is found, recommendations for treatment and return to play often depend on the clinical severity of the disease. Does it cause symptoms like syncope? Is the heart excessively weak or hypertrophic? Can you see many irregularities? Heart rhythm (arrhythmia), does it get worse with exercise? If the answer to any of these questions is ‘yes’, then the intensity of exercise needs to be cut back in some way.”


One example is a genetic disorder that can lead to sudden cardiac death in athletes called hypertrophic cardiomyopathy (HCM), in which the heart muscle is abnormally thickened.

Dr. Papadakis pointed out.

“We used to be very conservative, but now our recommendations are more relaxed. Athletes with HCM should undergo a thorough clinical evaluation to assess their risk of sudden cardiac death and then be offered exercise prescriptions. In most cases, the genetic Testing does not affect management.  Asymptomatic athletes identified as low risk are likely to participate in competitive sports after informed discussion with their physician. Other high risk individuals may be restricted to moderate-intensity exercise. Exercise prescriptions should be as specific as possible , and outlines how often, how long, what intensity, and what kind of exercise or sport is safe.”


In some cases, however, genetic testing can dictate management. An example is long QT syndrome (LQTS), an inherited electrical malfunction of the heart.

Identifying different genetic subtypes (LQT 1-3) can inform risk of arrhythmia, identify potential triggers to avoid, and help determine medical therapy and planned exercise recommendations.

“For example, in LQT type 1 but not type 2 or 3, sudden immersion in cold water is more likely to cause life-threatening arrhythmias, so swimmers with the type 1 genotype should be more cautious than runners.”



The only condition where genetic testing alone could lead to exclusion from the competition is a heart muscle disease called arrhythmic cardiomyopathy (ARVC).

“Even if an athlete has no clinical evidence of the disease, but has the gene for the disease, he or she should forgo high-intensity competitive sports,” Dr. Papadakis said. “This is because studies have shown that people with the gene who engage in high-intensity exercise tend to develop the disease early in life and tend to develop more severe disease that can cause life-threatening heart rhythms during exercise Abnormal.”


Up to 80% of athletes who die suddenly have no symptoms of heart disease or family history


In addition to this, pre-test genetic counseling should be undertaken to discuss the implications for athletes and their families.

For example, an athlete’s mother is clinically diagnosed with ARVC and has the causative gene, then the athlete is screened and all clinical tests are normal.

The athlete has two options.

1) clinical surveillance, possibly annually, to check for signs of disease;

2) genetic testing.


“The athlete needs to know that if the test comes back positive, it may herald the end of his or her career, even if there is no clinical evidence of the disease, and on the other hand, if genetic testing is rejected, the condition may get worse. Considering the potential Psychosocial, financial and mental health impacts, especially if athletes are excluded from competition, post-test counselling is critical.”


For younger athletes, genetic counseling at a specialized pediatric center with the assistance of a child mental health professional may be required. Dr. Papadakis pointed out.

“The psychological impact of a positive genetic test result can be significant, especially if this results in exclusion from exercise even in the absence of clinical conditions such as ARVC.”


In children with a clinical diagnosis of a genetic disorder, genetic testing can confirm the diagnosis and, in some cases, help predict the risk of sudden death during exercise.

For example, having a gene for an electrical malfunction of the heart called catecholaminergic polymorphic ventricular tachycardia (CPVT) may lead to recommendations for preventive therapy, such as beta-blockers, and dictate exercise decisions.

“This is important because CPVT is prone to arrhythmias during exercise and can lead to sudden death at a very young age,” Papadakis said. In contrast, the timing of genetic testing in children with a family history of HCM is controversial, as it rarely causes sudden childhood death in the absence of clinical symptoms. “



Up to 80% of athletes who die suddenly have no symptoms of heart disease or family history

(source:internet, reference only)

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