80% of athletes who die suddenly had no symptoms or family history of heart disease

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R.I.

Madrid

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Most athletes who die suddenly from heart disease had no symptoms and no family history of heart disease. It has been seen by an investigation published by the “European Journal of Preventive Cardiology” and which recalls that there are methods to identify people at higher risk through genetic testing.

“Genetic testing for potentially lethal variants is more accessible than ever and this paper focuses on which athletes should be tested and when,” said lead author Michael Papadakis of St George’s University London, UK. “Athletes should be counseled on the possible results before undergoing genetic testing, as it could mean exclusion or restriction from the game.”

In most cases, the clinical evaluation will dictate the need for preventive therapy, such as a defibrillator, and advice on exercise and participation in competitive sports. Papadakis explains that “even if a genetic abnormality is found, recommendations about treatment and return to play are often dependent on the clinical severity of the disease. Does it cause symptoms like fainting? Is the heart excessively weak or thick? Do you see many heart rhythm irregularities (arrhythmias) and do they get worse during exercise? If the answer is yes to any of these questions, it is likely that the game will be reduced in some way.

An example is an inherited condition called hypertrophic cardiomyopathy (MCH)in which the heart muscle is abnormally thick, which can cause sudden cardiac death in athletes.

Others at higher risk may be restricted from moderate-intensity exercise. The exercise prescription should be as specific as possible, describing how often, for how long, at what intensity, and what exercise or sport is safe

Papadakis points out that “before we were very conservative, but now our advice is more liberal. Athletes with HCM should undergo a thorough clinical evaluation to assess their risk of sudden death, and are then offered an exercise prescription. Genetic tests in this disease do not influence treatment in most cases.

Asymptomatic athletes considered low risk can potentially participate in competitive sports after an informed visit with their physician. Others at higher risk may be restricted from moderate-intensity exercise. The exercise prescription should be as specific as possible, describing how often, for how long, at what intensity, and what exercise or sport is safe.”

In some cases, however, genetic testing may dictate management. One example is long QT syndrome (LQTS), which is an inherited electrical failure of the heart. Identification of the different genetic subtypes (LQT 1-3) can inform the risk of arrhythmias, identify potential triggers to avoid, and help guide medical therapies and plan exercise advice.

Genetic traits can inform arrhythmia risk, identify potential triggers to avoid, and help guide medical therapies and plan exercise advice

Papadakis asserts that “for example, sudden immersion in cold water is more likely to cause arrhythmias life-threatening in type 1 LQTs than in types 2 or 3, so more care needs to be taken with swimmers who have the type 1 genetic subtype than with runners.”

The only situation where genetic testing alone can lead to exclusion from the game is a condition of the heart muscle called arrhythmogenic cardiomyopathy (ARVC). “Even if an athlete has no clinical evidence of the disease but does have the gene for the condition, he should refrain from high-intensity, competitive sports,” Papadakis said.

“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 that can cause a life-threatening arrhythmia during sport.”

Pre-test genetic counseling should be performed to discuss implications for athletes and their families. As an example, the mother of an athlete is clinically diagnosed with ARVC and has the causal gene, the athlete is then tested and all clinical tests are normal.

The athlete has two options: 1) clinical follow-up, probably annually, to check for signs of disease; or 2) genetic testing.

“The athlete should know that if the test is positive it can mean the end of his career, even if there is no clinical evidence of the disease,” says Papadakis. “On the other hand, if the genetic test is rejected, the disease can worsen. Post-event counseling is critical given the potential psychosocial, financial and mental health implications, particularly if the athlete is excluded from the game.”

In the case of sporty children, genetic counseling at an expert pediatric center with the assistance of a child mental health specialist may be necessary. Papadakis notes that “the psychological impact of a positive genetic test result can be significant for the child, especially if this leads to sports exclusion even in the absence of clinical disease as in ARVC.”

Having the gene for an electrical failure of the heart called catecholaminergic polymorphic ventricular tachycardia (CPVT) may lead to advising preventative therapies, such as beta-blockers, and dictate decisions about exercise

In children with a clinical diagnosis of an inherited disease, genetic testing can confirm the diagnosis and, in some cases, help predict the risk of sudden death during sports. For example, .

“This is important, as CPVT predisposes to arrhythmias during exercise and can cause sudden death at a very young age,” adds Papadakis. “In contrast, the timing of genetic testing in children with a family history of HCM is controversial, as in the absence of clinical signs it rarely causes sudden death in infancy.”

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