Sudden cardiac death in young athletes: Literature review of molecular basis
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 l...
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2020-04-01
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doaj-c7c4914d104147aea7c7bdbf9d8d7c1b2021-01-02T11:07:40ZengMDPI AGCardiogenetics2035-82532035-81482020-04-0110110.4081/cardiogenetics.2020.8860Sudden cardiac death in young athletes: Literature review of molecular basisCristina Mazzaccara0Bruno Mirra1Ferdinando Barretta2Barbara Lombardo3Olga Scudiero4Giulia Frisso5Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II; CEINGE Advanced Biotechnologies, NaplesDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II; CEINGE Advanced Biotechnologies, NaplesDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II; CEINGE Advanced Biotechnologies, NaplesDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II; CEINGE Advanced Biotechnologies, NaplesDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II; CEINGE Advanced Biotechnologies, NaplesDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II; CEINGE Advanced Biotechnologies, Naples 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. https://www.pagepressjournals.org/index.php/cardiogen/article/view/8860Sudden cardiac deathcardiomyopathygenetic testingathletes. |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Cristina Mazzaccara Bruno Mirra Ferdinando Barretta Barbara Lombardo Olga Scudiero Giulia Frisso |
spellingShingle |
Cristina Mazzaccara Bruno Mirra Ferdinando Barretta Barbara Lombardo Olga Scudiero Giulia Frisso Sudden cardiac death in young athletes: Literature review of molecular basis Cardiogenetics Sudden cardiac death cardiomyopathy genetic testing athletes. |
author_facet |
Cristina Mazzaccara Bruno Mirra Ferdinando Barretta Barbara Lombardo Olga Scudiero Giulia Frisso |
author_sort |
Cristina Mazzaccara |
title |
Sudden cardiac death in young athletes: Literature review of molecular basis |
title_short |
Sudden cardiac death in young athletes: Literature review of molecular basis |
title_full |
Sudden cardiac death in young athletes: Literature review of molecular basis |
title_fullStr |
Sudden cardiac death in young athletes: Literature review of molecular basis |
title_full_unstemmed |
Sudden cardiac death in young athletes: Literature review of molecular basis |
title_sort |
sudden cardiac death in young athletes: literature review of molecular basis |
publisher |
MDPI AG |
series |
Cardiogenetics |
issn |
2035-8253 2035-8148 |
publishDate |
2020-04-01 |
description |
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.
|
topic |
Sudden cardiac death cardiomyopathy genetic testing athletes. |
url |
https://www.pagepressjournals.org/index.php/cardiogen/article/view/8860 |
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