Key result
CMR and genetics identify HCM as the leading cardiomyopathy in athletes, while ACM drives most SCD.
Why the study?
Sudden cardiac death in young athletes is frequently linked to structural myocardial diseases, prompting investigation into their prevalence and underlying etiologies using CMR.
Does cardiac magnetic resonance imaging identify the prevalence of structural myocardial diseases and the etiology of sudden cardiac death in athletes with suspected myocardial disease?
Observational (n=687)
No
Does cardiac magnetic resonance imaging identify the prevalence of structural myocardial diseases and the etiology of sudden cardiac death in athletes with suspected myocardial disease?
CMR and genetic testing are crucial for identifying structural myocardial diseases in symptomatic or high-risk athletes, revealing hypertrophic cardiomyopathy as the most common cardiomyopathy and arrhythmogenic cardiomyopathy as the most common cause of sudden cardiac death.
Answers are grounded in this paper and cite their sources.
May support CMR/genetic evaluation in symptomatic athletes; leaves open prospective validation before broader screening adoption.
Introduction Sudden cardiac death (SCD) in young athletes is often associated with structural myocardial diseases. Cardiac magnetic resonance imaging (CMR) is an advanced imaging modality that plays a key role in detecting myocardial tissue abnormalities. Objective To investigate the prevalence of structural myocardial diseases and the etiology of SCD in athletes. Methods We included athletes (≥6 hours of training per week) who underwent CMR due to suspected structural myocardial disease in our Center. In cases of confirmed myocardial disease or after resuscitation/sustained ventricular tachycardia, genetic testing was also performed. Results A total of 687 athletes (541 males, mean age: 24.2±10.9 years) were examined. Indications for CMR included resuscitation/sustained ventricular tachycardia (4%), abnormal ECG findings (47%), echocardiographic abnormalities (17%), positive family history (10%), and cardiac symptoms (23%). Structural myocardial abnormalities were identified in 120 athletes (103 males, mean age: 31.6±13.5 years, weekly training: 11.3±5.5 hours). Among cardiomyopathies, hypertrophic cardiomyopathy (HCM) was diagnosed in 39 cases, arrhythmogenic cardiomyopathy (AC) in 14, and dilated cardiomyopathy (DCM) in 11 athletes. Non-ischemic fibrosis/scarring was detected in 36 athletes, including cases of prior myocarditis and atypical patterns. Among athletes investigated after resuscitation or sustained ventricular tachycardia, 15 had identifiable abnormalities: AC (7 cases), HCM (1 case), mitral annular disjunction (MAD) (1 case), ischemic damage (2 cases), and atypical fibrosis (4 cases). Genetic testing was performed in 41 athletes, revealing pathogenic or likely pathogenic mutations in 12 cases and variants of uncertain significance in 18 cases. Conclusions In this large-scale study of athletes, HCM was the most frequently identified cardiomyopathy, whereas AC was the most common underlying cause of SCD. CMR and genetic testing play a crucial role in clarifying the etiology of sudden cardiac death in young athletes.21-year-old ice hockey player with HCM
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Balla et al. (2025) conducted an observational in Suspected structural myocardial disease (n=687). Cardiac magnetic resonance imaging was evaluated on Prevalence of structural myocardial diseases and etiology of sudden cardiac death. CMR identified structural abnormalities in 120 of 687 athletes (17.5%); hypertrophic cardiomyopathy was the most frequent (39 cases) and arrhythmogenic cardiomyopathy the most common cause of SCD.
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