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Nonstructural Genetic Cardiac Disease as the Most Common Cause of Sudden Cardiac Death in the Young Athlete: Is This True?

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Abstract

Purpose of review

This review is aimed at summarizing and discussing the primary causes of sudden cardiac death (SCD) in young athletes.

Recent findings

SCD in young athletes is a dramatic event, with an incidence rate that can reach 13 deaths per 100,000 athletes. Occasionally, exercise can trigger SCD, and unfortunately, this event may be the first manifestation of an underlying and silent cardiac condition. In the USA, hypertrophic cardiomyopathy is reported as the leading cause of SCD among young athletes, whereas arrhythmogenic right ventricular cardiomyopathy has been reported as the main cause in the Veneto region of Italy. However, emerging evidence has demonstrated that in many cases, athletes who experience sudden death have a seemingly normal cardiac structure, suggesting the possibility of sudden arrhythmic death syndrome. In recent decades, it has been possible to determine the causes of many SCDs that occur in the presence of nonstructural cardiac diseases. It is worth noting that routinely used cardiovascular screening methods, such as electrocardiogram and echocardiogram, may fail to detect nonstructural genetic cardiac diseases. In turn, in some circumstances, genetic testing may play a role in identifying individuals at risk of SCD due to these conditions.

Summary

Understanding the underlying causes of SCD in young athletes is noteworthy for developing effective prevention and screening strategies. A multidisciplinary approach involving cardiologists, clinical sports physicians, pathologists, and geneticists collaborating represents an opportunity to enhance and optimize patient care and can play a crucial role in the prevention of SCD among young athletes.

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Authors and Affiliations

  1. Graduate Program in Cardiology and Cardiovascular Sciences, Universidade Federal do Rio Grande do Sul, RS, Porto Alegre, Brazil

    Ricardo Stein MD, ScD, Filipe Ferrari BSc, MSc, Thais M. A. Beuren MD & Anderson D. da Silveira MD, ScD

  2. Exercise Cardiology Research Group (CardioEx), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil

    Ricardo Stein MD, ScD, Filipe Ferrari BSc, MSc, Thais M. A. Beuren MD & Anderson D. da Silveira MD, ScD

  3. Internal Medicine, Universidade Federal do Rio Grande do Sul, RS, Porto Alegre, Brazil

    Ricardo Stein MD, ScD

  4. School of Medicine, Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Fisiatria, Porto Alegre, RS 90035-903, Brazil

    Ricardo Stein MD, ScD

  5. Arrhythmia Unit, Instituto do Coração, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil

    Luciana Sacilotto MD, PhD

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Ricardo Stein is an established investigator of the Conselho Nacional de Pesquisa (CNPq), Brasília, Brazil. Filipe Ferrari and Thais M. A. Beuren receive financial support from Coordination for the Improvement of Higher Education (CAPES). Anderson D. da Silveira declares that he has no conflict of interest. Luciana Sacilotto declares that she has no conflict of interest.

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Stein, R., Ferrari, F., Beuren, T.M.A. et al. Nonstructural Genetic Cardiac Disease as the Most Common Cause of Sudden Cardiac Death in the Young Athlete: Is This True?. Curr Treat Options Cardio Med 25, 525–542 (2023). https://doi.org/10.1007/s11936-023-01005-3

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