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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
Review

Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis

1
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
2
CEINGE Advanced Biotechnologies, 80131 Naples, Italy
*
Authors to whom correspondence should be addressed.
Cardiogenetics 2020, 10(1), 1-10; https://doi.org/10.4081/cardiogenetics.2020.8860
Received: 31 January 2020 / Revised: 24 March 2020 / Accepted: 27 March 2020 / Published: 7 April 2020
Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue among medical personnel, sports communities and laypersons alike, and generates significant media attention. The most frequent cause of SCD is a hidden inherited cardiomyopathy, the athletes may not even be aware of. Predictive medicine, by searching the presence of pathogenic alterations in cardiac genes, may be an integrative tool, besides the conventional ones used in cardiology (mainly electro and echocardiogram), to reach a definitive diagnosis in athletes showing signs/symptoms, even borderline, of inherited cardiomyopathy/ channelopathy, and in athletes presenting family history of SCD and/or of hereditary cardiac disease. In this review, we revised the molecular basis of the major cardiac diseases associated to sudden cardiac death and the clinical molecular biology approach that can be used to perform risk assessment at DNA level of sudden cardiac death, contributing to the early implementation of adequate therapy. Alterations can occur in ion channel genes, in genes encoding desmosomal and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton and the nuclear envelope. The advent of next generation sequencing (NGS) technology has provided the means to search for mutations in all these genes, at the same time. Therefore, this molecular approach should be the preferred methodology for the aforementioned purpose.
Keywords: sudden cardiac death; cardiomyopathy; genetic testing; athletes sudden cardiac death; cardiomyopathy; genetic testing; athletes
MDPI and ACS Style

Mazzaccara, C.; Mirra, B.; Barretta, F.; Lombardo, B.; Scudiero, O.; Frisso, G. Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis. Cardiogenetics 2020, 10, 1-10. https://doi.org/10.4081/cardiogenetics.2020.8860

AMA Style

Mazzaccara C, Mirra B, Barretta F, Lombardo B, Scudiero O, Frisso G. Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis. Cardiogenetics. 2020; 10(1):1-10. https://doi.org/10.4081/cardiogenetics.2020.8860

Chicago/Turabian Style

Mazzaccara, Cristina; Mirra, Bruno; Barretta, Ferdinando; Lombardo, Barbara; Scudiero, Olga; Frisso, Giulia. 2020. "Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis" Cardiogenetics 10, no. 1: 1-10. https://doi.org/10.4081/cardiogenetics.2020.8860

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