According to a recent article, the European Society of Cardiology has recommended that athletes undergo gene testing to prevent sudden cardiac death from exercise.

Gene Testing

Lethal variants can be found through genetic testing, and as testing has becoming increasingly accessible, doctors are encouraging athletes be tested. Depending on the results of the gene testing, there are multiple preventative therapies that may be recommended, including using a defibrillator. In order to make these recommendations, doctors will consider of the patient’s heart is weak or thick, if their condition is causing serious symptoms such as fainting, if the patient is having arrhythmias, and more. Furthermore, doctors will also use the results to determine exercise advise and competitive sports participation.

Conditions That Affect Athlete’s Hearts

One condition that will greatly affect the health of an athlete is hypertrophic cardiomyopathy (HCM). This is where the heart muscle is unusually thick, making it harder for the heart to pump blood. This condition is especially difficult because in some most cases, there are no symptoms or signs. For athletes, if this goes undiagnosed, it can result in sudden cardiac death. For the athletes who are diagnosed with this condition, doctors recommend getting clinical evaluations to determine the risk of sudden cardiac death. This way they can prescribe the right exercises.

Another condition that genetic testing heavily dictates the management for athletes is long QT syndrome (LQTS). Long QT syndrome is a rare heart rhythm condition that can potentially cause fast, chaotic heartbeats, which in turn cause sudden fainting spells or seizures. However, in some cases, the heart can beat so erratically that is causes sudden death. In long QT syndrome, the heart muscle takes longer than normal to recharge between beats, and this electrical disturbance is called a prolonged QT interval. There are different genetic subtypes with LQTS, which will change the recommendations made by doctors for management of the condition.

The most impactful diagnosis an athlete can get is arrhythmogenic cardiomyopathy (ARVC). This condition is an inherited heart muscle disorder, and it often results in arrhythmias and can cause sudden cardiac death. This diagnosis often leads doctors to recommend patients not to participate in sports that have a high intensity and are competitive. This is recommended since patients with this condition who exercise at high levels usually get the disease earlier and at a higher severity.

Genetic Counseling

Before an athlete completes their genetic testing, they should undergo genetic counseling. This counseling will warn the athlete of any potential implications, and it will dig into their family’s history which can therein help guide their gene testing.

The results of the genetic testing can be devastating for athletes depending on what is found. Even without any clinical evidence of disease, if a test is positive for something that is potentially life-threatening, it can end that athlete’s career on the spot. Therefore, it is important athletes have post-test counseling as well. This will help them come to terms with their diagnosis and understand implications of it, whether those are psychosocial, financial, or mental. Counseling is especially vital for children, as the results of genetic testing can be very impactful for them at such a pivotal developmental age.

No matter their age, athletes should have genetic testing done, as it has the potential to save their lives.