The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers.

Ferdinando Barretta,Martina Caiazza,Giulia Frisso,Barbara Lombardo,Nadia Tinto,Olga Scudiero,Cristina Mazzaccara,Bruno Mirra,Emanuele Monda

doi:10.3390/ijms21186682

Abstract

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.

Highlights

Sudden cardiac death (SCD) is defined, according to the European Society of Cardiology (ESC), as a non-traumatic, unexpected fatal event occurring within 1 h of the onset of symptoms, in an apparently healthy subject
Arrhythmic episodes, ventricular fibrillation (VF), are the main cause of SCD, and the prevention of VF is a challenge for electrophysiologists, since the risk of VF is considered as a surrogate of the risk of SCD [1,2,3]
In the presence of cardiovascular conditions predisposing to life-threatening ventricular arrhythmias, vigorous physical activity may transiently increase the risk of SCD, both in males and females, as evidenced by Corrado et al in adolescents and young adults [19]

Summary

Introduction

Sudden cardiac death (SCD) is defined, according to the European Society of Cardiology (ESC), as a non-traumatic, unexpected fatal event occurring within 1 h of the onset of symptoms, in an apparently healthy subject. Data in the literature suggested that SCD may occur as a consequence of a trigger factor in the context of electrical or structural heart disorder (genetic or acquired), which acts as a predisposing condition. Regular physical activity is an important exogenous factor affecting the risk of SCD in predisposed subjects. In the presence of cardiovascular conditions predisposing to life-threatening ventricular arrhythmias, vigorous physical activity may transiently increase the risk of SCD, both in males and females, as evidenced by Corrado et al in adolescents and young adults [19]

Objectives

Findings

Discussion

Conclusion