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Updated: May 21, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Preparticipation athletic screening for genetic heart disease
Merle Myerson1, Monica Sanchez-Ross, Mark V Sherrid
1Cardiovascular Disease Prevention Program, St Luke's and Roosevelt Hospitals, New York, NY, USA. myersonm@optonline.net
Sudden cardiac death in young athletes is rare but preventable with proper screening for heart conditions. This review explores screening methods, challenges, and the importance of emergency response plans for athletes.
Area of Science:
- Cardiology
- Sports Medicine
- Preventive Cardiology
Background:
- Sudden cardiac death (SCD) in young athletes, while uncommon, presents a significant public health concern.
- Pre-exercise screening holds potential for preventing SCD by identifying at-risk individuals.
- Existing research has advanced understanding, yet critical knowledge gaps persist regarding optimal screening protocols.
Purpose of the Study:
- To review the incidence and demographics of SCD in young athletes.
- To examine the challenges in differentiating training-induced cardiac adaptations from malignant abnormalities.
- To discuss current screening guidelines, the debate surrounding electrocardiogram use, and the necessity of emergency response plans.
Main Methods:
- Comprehensive literature review of studies on SCD in athletes.
- Analysis of current screening guidelines and diagnostic tools, including the 12-lead electrocardiogram.
- Discussion of the physiological challenges in interpreting cardiac changes in athletes and presentation of a case study.
Main Results:
- SCD in young athletes is a complex issue with ongoing challenges in risk stratification.
- The distinction between physiological cardiac remodeling and pathological conditions remains difficult.
- There is considerable debate regarding the efficacy and implementation of specific screening tools like the electrocardiogram.
Conclusions:
- Effective pre-exercise screening protocols are crucial for preventing SCD in young athletes.
- Further research is needed to refine screening strategies and address diagnostic ambiguities.
- Implementing on-field automated external defibrillators and response plans is vital for immediate management of cardiac events.
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