Up to 80% of athletes who die suddenly had no symptoms or fa
Genetic testing for potentially lethal variants is more accessible than ever before. Pre-test genetic counseling should be performed to discuss the implications for athletes and their family. If an athlete's mother is clinically diagnosed with ARVC and has the causal gene, the athlete is then screened and all clinical tests are normal. The athlete has two choices: 1) clinical monitoring, probably annually, to check for signs of disease; or 2) genetic testing.

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. 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.

Source: 10.1093/eurjpc/zwac080