Hypertrophic cardiomyopathy vs athlete's heart

Cheng, Tsung O.

doi:10.1016/j.ijcard.2008.10.015

Cited by 17 publications

(14 citation statements)

References 50 publications

(46 reference statements)

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“…Distinguishing potentially lifethreatening HCM from "athlete's heart," a nonpathological condition resulting from intense training, is quite challenging (E.g. Maron 2005, Cheng 2009Creswell 2009). Despite potential false negatives, genetic testing is the "most definitive way" to distinguish HCM from athlete's heart (Cheng 2009).…”

Section: Facilitating Player Safety or Genetic Discrimination?mentioning

confidence: 99%

“…Maron 2005, Cheng 2009Creswell 2009). Despite potential false negatives, genetic testing is the "most definitive way" to distinguish HCM from athlete's heart (Cheng 2009). While more than 1000 distinct mutations have been identified, the mutations found within two genes (MYH7 and MYBPC3, OMIM #160760 and #600958, respectively) collectively account for more than 7580% of HCM (Ho 2011).…”

Section: Facilitating Player Safety or Genetic Discrimination?mentioning

confidence: 99%

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Peer Review #2 of "Playing with heart and soul…and genomes: sports implications and applications of personal genomics (v0.1)"

baron¹

2013

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Whether the integration of genetic/omic technologies in sports contexts will facilitate player success, promote player safety, or spur genetic discrimination depends largely upon the game rules established by those currently designing genomic sports medicine programs. The integration has already begun, but there is not yet a playbook for best practices. Thus far discussions have focused largely on whether the integration would occur and how to prevent the integration from occurring, rather than how it could occur in such a way that maximizes benefits, minimizes risks, and avoids the exacerbation of racial disparities. Previous empirical research has identified members of the personal genomics industry offering sports-related DNA tests and previous legal research has explored the impact of collective bargaining in professional sports as it relates to the employment protections of the Genetic Information Nondiscrimination Act (GINA). Building upon that research and upon participant observations with specific sports-related DNA tests purchase from four direct-to-consumer companies in 2011 and broader personal genomics (PGx) services, this anthropological, legal, and ethical (ALE) discussion highlights fundamental issues that must be addressed by those developing personal genomic sports medicine programs, either independently or through collaborations with commercial providers. For example, the vulnerability of student athletes creates a number of issues that require careful, deliberate consideration. More broadly, however, this ALE discussion highlights potential sports-related implications (that ultimately might mitigate or, conversely, exacerbate racial disparities among athletes) of whole exome/genome sequencing conducted by biomedical researchers and clinicians for non-sports purposes. For example, the possibility that exome/genome sequencing of individuals who are considered to be non-patients, asymptomatic, normal, etc. will reveal the presence of variants of unknown significance in any one of the genes associated with hypertrophic cardiomyopathy (HCM), Long QT syndrome (LQTS), Marfan's syndrome, and other conditions is not inconsequential and how this information is reported, interpreted, and used may ultimately prevent the individual from participation in competitive sports. Due to the distribution of genetic diversity that reflects our evolutionary and demographic history (including the discernible effects of restricted gene

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Section: Facilitating Player Safety or Genetic Discrimination?mentioning

confidence: 99%

Section: Facilitating Player Safety or Genetic Discrimination?mentioning

confidence: 99%

Peer Review #2 of "Playing with heart and soul…and genomes: sports implications and applications of personal genomics (v0.1)"

baron¹

2013

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“…Screening for HCM has been advocated not to promote safety of those engaged in athletics but, rather, to identify and disqualify individuals prior to participation (e.g., Corrado et al, 1998). Distinguishing potentially life-threatening HCM from “athlete’s heart”, a non-pathological condition resulting from intense training, is quite challenging (e.g., Maron, 2005; Cheng, 2009; Creswell, 2009). Despite potential false negatives, genetic testing is the “most definitive way” to distinguish HCM from athlete’s heart (Cheng, 2009).…”

Section: Introductionmentioning

confidence: 99%

“…Distinguishing potentially life-threatening HCM from “athlete’s heart”, a non-pathological condition resulting from intense training, is quite challenging (e.g., Maron, 2005; Cheng, 2009; Creswell, 2009). Despite potential false negatives, genetic testing is the “most definitive way” to distinguish HCM from athlete’s heart (Cheng, 2009). While more than 1000 distinct mutations have been identified, the mutations found within two genes (MYH7 and MYBPC3, OMIM #160760 and #600958, respectively) collectively account for more than 75–80% of HCM (Ho, 2011).…”

Section: Introductionmentioning

confidence: 99%

Playing with heart and soul…and genomes: sports implications and applications of personal genomics

Wagner

2013

PeerJ

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Whether the integration of genetic/omic technologies in sports contexts will facilitate player success, promote player safety, or spur genetic discrimination depends largely upon the game rules established by those currently designing genomic sports medicine programs. The integration has already begun, but there is not yet a playbook for best practices. Thus far discussions have focused largely on whether the integration would occur and how to prevent the integration from occurring, rather than how it could occur in such a way that maximizes benefits, minimizes risks, and avoids the exacerbation of racial disparities. Previous empirical research has identified members of the personal genomics industry offering sports-related DNA tests, and previous legal research has explored the impact of collective bargaining in professional sports as it relates to the employment protections of the Genetic Information Nondiscrimination Act (GINA). Building upon that research and upon participant observations with specific sports-related DNA tests purchased from four direct-to-consumer companies in 2011 and broader personal genomics (PGx) services, this anthropological, legal, and ethical (ALE) discussion highlights fundamental issues that must be addressed by those developing personal genomic sports medicine programs, either independently or through collaborations with commercial providers. For example, the vulnerability of student-athletes creates a number of issues that require careful, deliberate consideration. More broadly, however, this ALE discussion highlights potential sports-related implications (that ultimately might mitigate or, conversely, exacerbate racial disparities among athletes) of whole exome/genome sequencing conducted by biomedical researchers and clinicians for non-sports purposes. For example, the possibility that exome/genome sequencing of individuals who are considered to be non-patients, asymptomatic, normal, etc. will reveal the presence of variants of unknown significance in any one of the genes associated with hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), Marfan’s syndrome, and other conditions is not inconsequential, and how this information is reported, interpreted, and used may ultimately prevent the individual from participation in competitive sports. Due to the distribution of genetic diversity that reflects our evolutionary and demographic history (including the discernible effects of restricted gene flow and genetic drift associated with cultural constructs of race) and in recognition of previous policies for “leveling” the playing field in competitive sports based on “natural” athletic abilities, preliminary recommendations are provided to discourage genetic segregation of sports and to develop best practice guidelines for genomic sports medicine programs that will facilitate player success, promote player safety, and avoid genetic discrimination within and beyond the program.

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“…Fortunately, recent studies reported a lower occurrence of sudden death in athletes b35 years of age over the last decade, due to the rising awareness of the medical community about the risk for athletes showing inappropriate left ventricular hypertrophy and the differential diagnostic criteria between athlete's heart and HCM [3,4].…”

Section: Introductionmentioning

confidence: 99%

Dramatic electrocardiographic changes in a junior athlete with unpredictable hypertrophic cardiomyopathy

Gregorio

Magliarditi

Magaudda

2009

International Journal of Cardiology

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Hypertrophic cardiomyopathy vs athlete's heart

Cited by 17 publications

References 50 publications

Peer Review #2 of "Playing with heart and soul…and genomes: sports implications and applications of personal genomics (v0.1)"

Peer Review #2 of "Playing with heart and soul…and genomes: sports implications and applications of personal genomics (v0.1)"

Playing with heart and soul…and genomes: sports implications and applications of personal genomics

Dramatic electrocardiographic changes in a junior athlete with unpredictable hypertrophic cardiomyopathy

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