The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers
Sudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of fatal arrhythmias is a trigger for SCD. Therefore,...
Main Authors: | , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-09-01
|
Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/21/18/6682 |
id |
doaj-e5fd635ff6df423e945ef37277db1817 |
---|---|
record_format |
Article |
spelling |
doaj-e5fd635ff6df423e945ef37277db18172020-11-25T02:43:21ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-09-01216682668210.3390/ijms21186682The Hidden Fragility in the Heart of the Athletes: A Review of Genetic BiomarkersFerdinando Barretta0Bruno Mirra1Emanuele Monda2Martina Caiazza3Barbara Lombardo4Nadia Tinto5Olga Scudiero6Giulia Frisso7Cristina Mazzaccara8Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyDepartment of Translational Medical Sciences, University of Campania ‘Luigi Vanvitelli’, Monaldi Hospital, 80131 Naples, ItalyDepartment of Translational Medical Sciences, University of Campania ‘Luigi Vanvitelli’, Monaldi Hospital, 80131 Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalySudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of fatal arrhythmias is a trigger for SCD. Therefore, knowledge of the athlete’s genetic conditions underlying the onset of SCD must be extended, in order to develop new effective prevention and/or therapeutic strategies. Arrhythmic features occur across a broad spectrum of cardiac diseases, sometimes presenting with overlapping phenotypes. The genetic basis of arrhythmogenic disorders has been greatly highlighted in the last 30 years, and has shown marked heterogeneity. The advent of next-generation sequencing has constantly updated our understanding of the genetic basis of arrhythmogenic diseases and is laying the foundation for precision medicine. With the exception of a few clinical cases involving a single athlete showing a highly suspected phenotype for the presence of a heart disease, there are few studies to date that analysed the applicability of genetic testing on cohorts of athletes. This evidence shows that genetic testing can contribute to the diagnosis of up to 13% of athletes; however, the presence of clinical markers is essential. This review aims to provide a reference collection on current knowledge of the genetic basis of sudden cardiac death in athletes and to review updated evidence on the effectiveness of genetic testing in early identification of athletes at risk for SCD.https://www.mdpi.com/1422-0067/21/18/6682sudden cardiac deathathleteschannelopathiescardiomyopathiesgenetic testnext generation sequencing |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ferdinando Barretta Bruno Mirra Emanuele Monda Martina Caiazza Barbara Lombardo Nadia Tinto Olga Scudiero Giulia Frisso Cristina Mazzaccara |
spellingShingle |
Ferdinando Barretta Bruno Mirra Emanuele Monda Martina Caiazza Barbara Lombardo Nadia Tinto Olga Scudiero Giulia Frisso Cristina Mazzaccara The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers International Journal of Molecular Sciences sudden cardiac death athletes channelopathies cardiomyopathies genetic test next generation sequencing |
author_facet |
Ferdinando Barretta Bruno Mirra Emanuele Monda Martina Caiazza Barbara Lombardo Nadia Tinto Olga Scudiero Giulia Frisso Cristina Mazzaccara |
author_sort |
Ferdinando Barretta |
title |
The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers |
title_short |
The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers |
title_full |
The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers |
title_fullStr |
The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers |
title_full_unstemmed |
The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers |
title_sort |
hidden fragility in the heart of the athletes: a review of genetic biomarkers |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1661-6596 1422-0067 |
publishDate |
2020-09-01 |
description |
Sudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of fatal arrhythmias is a trigger for SCD. Therefore, knowledge of the athlete’s genetic conditions underlying the onset of SCD must be extended, in order to develop new effective prevention and/or therapeutic strategies. Arrhythmic features occur across a broad spectrum of cardiac diseases, sometimes presenting with overlapping phenotypes. The genetic basis of arrhythmogenic disorders has been greatly highlighted in the last 30 years, and has shown marked heterogeneity. The advent of next-generation sequencing has constantly updated our understanding of the genetic basis of arrhythmogenic diseases and is laying the foundation for precision medicine. With the exception of a few clinical cases involving a single athlete showing a highly suspected phenotype for the presence of a heart disease, there are few studies to date that analysed the applicability of genetic testing on cohorts of athletes. This evidence shows that genetic testing can contribute to the diagnosis of up to 13% of athletes; however, the presence of clinical markers is essential. This review aims to provide a reference collection on current knowledge of the genetic basis of sudden cardiac death in athletes and to review updated evidence on the effectiveness of genetic testing in early identification of athletes at risk for SCD. |
topic |
sudden cardiac death athletes channelopathies cardiomyopathies genetic test next generation sequencing |
url |
https://www.mdpi.com/1422-0067/21/18/6682 |
work_keys_str_mv |
AT ferdinandobarretta thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT brunomirra thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT emanuelemonda thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT martinacaiazza thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT barbaralombardo thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT nadiatinto thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT olgascudiero thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT giuliafrisso thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT cristinamazzaccara thehiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT ferdinandobarretta hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT brunomirra hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT emanuelemonda hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT martinacaiazza hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT barbaralombardo hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT nadiatinto hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT olgascudiero hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT giuliafrisso hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers AT cristinamazzaccara hiddenfragilityintheheartoftheathletesareviewofgeneticbiomarkers |
_version_ |
1724769850854735872 |