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When is an appropriate time to consider genetic testing for cardiomyopathies for athletes as part of risk stratification for sudden cardiac death, in light of heightened prevalence of cardiac remodeling confounded by exercise and athletic conditioning?

2 Answers
Mednet MemberInvited Expert
Cardiology · Atrium Health Wake Forest Baptist Medical Center
Answered on

Genetic testing for cardiomyopathies in athletes may be appropriate in the presence of structural cardiac abnormalities with known genetic basis documented by imaging or a family history of an index case of sudden cardiac death with documented genetic basis in a relative preferable first or second degree.

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Mednet Member
Cardiology · UCLA Health
Answered on

I'm assuming this question is referring to proactive genetic screening rather than evaluation of a patient with clinical signs of heart disease.

Clinical screening with EKG, echo and history including family history is a much more effective method of risk stratification. UK Biobank exome sequencing studies demonstrate that ~1% of the general population has pathogenic variants associated with cardiomyopathy and/or arrhythmia. The penetrance of pathogenic variants in this unselected older populat...

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