Key result
Genetic testing can contribute to the diagnosis of up to 13% of athletes at risk for sudden cardiac death, provided clinical markers are present.
Why the study?
Few studies have examined the applicability of genetic testing in cohorts of athletes to identify the genetic conditions underlying sudden cardiac death and develop effective prevention strategies.
Does genetic testing improve early identification of sudden cardiac death in athletes?
Does genetic testing improve early identification of sudden cardiac death in athletes?
Genetic testing can aid in diagnosing up to 13% of athletes at risk for sudden cardiac death, though clinical markers remain essential.
Answers are grounded in this paper and cite their sources.
May support targeted testing in athletes with clinical markers; leaves open prospective validation before practice change.
Sudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of fatal arrhythmias is a trigger for SCD. Therefore, knowledge of the athlete's genetic conditions underlying the onset of SCD must be extended, in order to develop new effective prevention and/or therapeutic strategies. Arrhythmic features occur across a broad spectrum of cardiac diseases, sometimes presenting with overlapping phenotypes. The genetic basis of arrhythmogenic disorders has been greatly highlighted in the last 30 years, and has shown marked heterogeneity. The advent of next-generation sequencing has constantly updated our understanding of the genetic basis of arrhythmogenic diseases and is laying the foundation for precision medicine. With the exception of a few clinical cases involving a single athlete showing a highly suspected phenotype for the presence of a heart disease, there are few studies to date that analysed the applicability of genetic testing on cohorts of athletes. This evidence shows that genetic testing can contribute to the diagnosis of up to 13% of athletes; however, the presence of clinical markers is essential. This review aims to provide a reference collection on current knowledge of the genetic basis of sudden cardiac death in athletes and to review updated evidence on the effectiveness of genetic testing in early identification of athletes at risk for SCD.
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Barretta et al. (2020) conducted a review in Sudden cardiac death in athletes. Genetic testing was evaluated on Diagnosis of athletes at risk for sudden cardiac death. Genetic testing can contribute to the diagnosis of up to 13% of athletes at risk for sudden cardiac death, provided clinical markers are present.
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