New suggestions released in the European Journal of Preventive Cardiology explain how to utilize hereditary screening to avoid unexpected heart death in professional athletes and make it possible for safe workout.
Recommendations on how to utilize gene screening to avoid unexpected heart death in professional athletes and make it possible for safe workout were released on June 16, 2022, in the European Journal of Preventive Cardiology, a journal of the European Society of Cardiology (ESC).
“Genetic testing for potentially lethal variants is more accessible than ever before and this document focuses on which athletes should be tested and when,” stated authorDr Michael Papadakis of St George’s, University of London, UK. “Sportspeople should be counseled on the potential outcomes prior to genetic testing since it could mean exclusion or restricted play.”
In most cases, medical assessment will determine the requirement for preventive treatment such as a defibrillator and the suggestions on workout and involvement in competitive sports.Dr Papadakis described: “Even if a genetic abnormality is found, recommendations on treatment and return to play usually depend on how severe the disease is clinically. Is it causing symptoms such as fainting? Is the heart excessively weak or thick? Can we see many irregularities of the heart rhythm (arrhythmias) and do they get worse during exercise? If the answer is ‘yes’ to any of these questions then play is likely to be curtailed in some way.”
One example is an acquired condition that can trigger unexpected heart death in professional athletes called hypertrophic cardiomyopathy (HCM), where the heart muscle is unusually thick.Dr Papadakis kept in mind: “We used to be very conservative but now our advice is more liberal. Athletes with HCM should undergo comprehensive clinical evaluation to assess their risk of sudden cardiac death and then be offered an exercise prescription. Genetic testing in this condition does not impact management in most cases. Asymptomatic athletes judged to be at low risk can potentially participate in competitive sports after an informed discussion with their doctor. Others at higher risk may be restricted to moderate intensity exercise. The exercise prescription should be as specific as possible and outline how often, for how long, at what intensity, and which exercise or sport is safe.”
In some cases, nevertheless, hereditary screening can determine management. One example is long QT syndrome (LQTS), which is an acquired electrical fault of the heart. Identification of various hereditary subtypes (LQT 1-3) can notify the threat of arrhythmias, recognize prospective triggers to be prevented, and assist to target medical treatments and strategy work out suggestions.Dr Papadakis stated: “For instance, sudden immersion in cold water is more likely to cause life-threatening arrhythmias in LQT type 1 rather than types 2 or 3, so one should be more cautious with swimmers who have the type 1 genetic subtype than runners.”
The just scenario where hereditary screening alone might lead to exemption from play is a heart muscle condition called arrhythmogenic cardiomyopathy (ARVC). “Even if an athlete has no clinical evidence of the disease but has the gene for the condition, he or she should abstain from high intensity and competitive sport,” statedDr Papadakis. “This is because studies show that people with the gene who exercise at a high level tend to develop the disease earlier in life and tend to develop more severe disease which can cause a life-threatening arrhythmia during sport.”
Pre- test hereditary therapy need to be carried out to go over the ramifications for professional athletes and their households. As an example, a professional athlete’s mom is medically detected with ARVC and has the causal gene, the professional athlete is then evaluated and all medical tests are typical. The professional athlete has 2 options: 1) medical tracking, most likely every year, to look for indications of illness; or 2) hereditary screening. “The athlete needs to know that if the test is positive that may signal the end of his or her career, even if there is no clinical evidence of disease,” statedDr Papadakis. “On the other hand, if genetic testing is refused the condition may get worse. Post-test counseling is critical given the potential psychosocial, financial, and mental health implications, particularly if the athlete is excluded from play.”
For kid professional athletes, hereditary therapy in a specialist pediatric center with support from a kid psychological health professional might be required.Dr Papadakis mentioned: “The psychological impact of a positive genetic test result may be significant for the child, especially if this leads to sports exclusion even in the absence of clinical disease such as in ARVC.”
In kids with a scientific medical diagnosis of an acquired condition, hereditary screening might verify the medical diagnosis and sometimes assist anticipate the threat of unexpected death throughout sports. For example, having the gene for an electrical fault of the heart called catecholaminergic polymorphic ventricular tachycardia (CPVT) might result in suggestions for preventive treatments, such as beta blockers, and determine choices about workout. “This is important as CPVT predisposes to arrhythmias during exercise and can cause sudden death at a very young age,” statedDr Papadakis. “In contrast, the timing of genetic testing in children with a family history of HCM is controversial since in the absence of clinical signs it rarely causes sudden death in childhood.”
Reference: “Indications and utility of cardiac genetic testing in athletes” by Silvia Castelletti, Belinda Gray, Cristina Basso, Elijah R. Behr, Lia Crotti, Perry M. Elliott, Cecilia M. Gonzalez Corcia, Flavio D’Ascenzi, Jodie Ingles, Bart Loeys, Antonis Pantazis, Guido E. Pieles, Johan Saenen, Georgia Sarquella Brugada, Maria Sanz de la Garza, Sanjay Sharma, Emeline M. Van Craenebroek, Arthur Wilde and Michael Papadakis, 16 June 2022, European Journal of Preventive Cardiology
DOI: 10.1093/ eurjpc/zwac080
The clinical declaration was prepared by the Sports Cardiology and Exercise Section of the European Association of Preventive Cardiology, the European Heart Rhythm Association, the ESC Working group on myocardial and pericardial illness, the ESC Council on Cardiovascular Genomics, the European Society of Human Genetics and the Association for European Paediatric and Congenital Cardiology.
