Screening young athletes for diseases at risk of sudden cardiac death: role of stress testing for ventricular arrhythmias

Abstract

Aims: The athletic preparticipation evaluation (PPE) protocol proposed by the European Society of Cardiology includes history, physical examination and resting electrocardiogram (ECG). The aim of this study was to assess the results of adding constant-load ECG stress testing (EST) to the protocol for the evaluation of ventricular arrhythmias (VA) inducibility. Methods: We evaluated a consecutive cohort of young athletes with history, physical examination, resting ECG and EST. Athletes with VA induced by EST underwent 24-hour 12-lead Holter monitoring and echocardiography. Cardiac magnetic resonance (CMR) was reserved for those with frequent, repetitive or exercise-worsened VA, and for athletes with echocardiographic abnormalities. Results: Of 10,985 athletes (median age 15 years, 66% males), 451 (4.1%) had an abnormal history, physical examination or resting ECG and 31 (0.28%) were diagnosed with a cardiac disease and were at risk of sudden cardiac death. Among the remaining 10,534 athletes, VA at EST occurred in 524 (5.0%) and a previously missed at-risk condition was identified in 23 (0.22%); the most common (N ¼ 10) was an echocardiographically silent non-ischaemic left-ventricular fibrosis evidenced by CMR. The addition of EST increased the diagnostic yield of PPE by 75% (from 0.28% to 0.49%) and decreased the positive predictive value by 20% (from 6.9% to 5.5%). During a 32 AE 21 months follow-up, no cardiac arrests occurred among either eligible athletes or non-eligible athletes with cardiovascular disease. Conclusions: The addition of exercise testing for the evaluation of VA inducibility to history, physical examination and ECG resulted in an increase of the diagnostic yield of PPE at the expense of an increase in false-positive findings.

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

“…Some papers applied the genetic test in the diagnostic flow-chart of cohorts of athletes targeted for the evidence of ECG anomalies with/without clinical symptoms. These studies unveiled that the percentage of genotype-positive athletes is significant and contributes as an integrative diagnostic instrument in athletes selected on the basis of a strong clinical suspicion for inherited cardiac disease [ 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 49 , 50 ]. Indeed, Cronin et al demonstrated that, in a small cohort of athletes (N: 10), the evidence of TWI at ECG without a clinical phenotype was not related to a specific genetic background [ 48 ].…”

“…Five studies carried out a genetic test on athlete populations, including white and black, elite and amateur athletes [ 45 , 46 , 47 , 48 , 49 , 50 ]. Among these, we excluded the study of Macarie et al [ 45 ], as the authors performed the genetic test using Multiple Ligation Dependent Probe Amplification (MLPA), exclusively, and did not precisely report the mutations found in the athletes.…”

“…Similarly, post-mortem genetic studies identified molecular alterations that can be causative or con-causative of SCD in athletes [ 36 , 37 , 38 ]. However, in recent years, several studies have addressed the issue of using genetic testing in athletes showing instrumental abnormalities (ECG and/or echocardiogram and/or cardiac magnetic resonance) or family history of cardiomyopathy or SCD, with the aim of early diagnosis of life-threatening cardiac genetic disorders [ 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 ].…”

Pre-participation cardiovascular evaluation of young athletes: Should they sweat or not?

“…4 In this issue of the journal, Alessandro Zorzi and colleagues 5 added an interesting piece of evidence by studying EST in predominantly adolescent athletes with a prospective follow-up. The novelty in that study is an advanced imaging strategy, using cardiac magnetic resonance imaging (CMR) in athletes with complex VA. 5 The authors enrolled 10,985 consecutive non-professional athletes (median age 15 years) undergoing annual PPE. In the total cohort, 9% of the athletes had abnormal findings, 4% were detected with medical history, physical examination or resting ECG alone and another 5% only during EST.…”

“…8 In the United Kingdom regional registry, 26% of deceased athletes with non-ischaemic LV scar had died at rest, highlighting other potential triggers than exercise for life-threatening VA. 10 What are the clinical implications of the study by Zorzi et al? 5 The answer may be different from an Italian and European perspective. Within the framework of the distinct Italian sports law, criteria have been established to disqualify athletes at risk from competitive sports.…”