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Exertional-Related Sudden Cardiac Death in a Young, Presumed Healthy, and Medically Screened Population: A Military
Elizabeth V McLeod1, John C Walsh2, Mark C Haigney
1From the National Capital Consortium, Walter Reed National Military Medical Center, Bethesda, MD.
Insights
Sudden cardiac death during physical exertion (SCD/E) can reveal hidden heart conditions in military personnel. Postmortem genetic testing in one case identified a mutation, allowing family screening and prevention.
Area of Science:
- Cardiology
- Forensic Pathology
- Military Medicine
Background:
- Sudden cardiac death (SCD) is a critical concern, especially when linked to physical exertion (SCD/E).
- The US military offers a unique setting for studying SCD/E due to comprehensive medical screening, training, and surveillance.
- Despite screening, underlying cardiac pathologies can remain undetected in recruits.
Purpose of the Study:
- To present diverse cases of SCD/E within the military population.
- To highlight the significance of postmortem evaluations, including genetic testing, in identifying causes of SCD/E.
- To underscore the potential for genetic findings to guide family screening and prevention strategies.
Main Methods:
- Case series analysis of SCD/E in military personnel.
- Review of medical screening, training, and surveillance data.
- Inclusion of postmortem examination findings, with a focus on genetic testing results.
Main Results:
- Four diverse cases of SCD/E in the military setting were analyzed.
- Occult cardiac pathology was identified as the underlying cause in these events.
- Postmortem genetic testing identified a causative pathogenic mutation in one of the four cases.
Conclusions:
- SCD/E often signifies serious, previously undiagnosed cardiac conditions.
- Postmortem genetic testing is crucial for identifying specific mutations and enabling cascade genetic screening in families.
- Further research is needed to improve screening and prevention of SCD/E in at-risk populations.
Abstract:
Sudden cardiac death (SCD) is defined as death from cardiac causes with loss of consciousness occurring within 1 hour of a change in cardiovascular status. As subset, SCD associated with physical exertion (SCD/E) can be defined as a cardiac event whose symptoms start during or within 1 hour of physical exertion. The US military represents a unique opportunity for studying SCD/E because of medical screening at recruitment, mandatory physical training, an active surveillance system, and centralized autopsy services. Because of medical screening, recruits are presumed healthy, but significant conditions can go undetected. We present 4 diverse cases of SCD/E in the military setting. Sudden cardiac death associated with physical exertion is often the first indication of a serious occult cardiac pathology. Postmortem genetic testing revealed a causative pathogenic mutation in 1 of 4 cases, enabling genetic testing of family members to prevent similar catastrophic loss of life, underscoring the importance of postmortem evaluation including genetic testing. Further investigations will help direct screening and prevention to capture those at risk for SCD. The cases presented in this series are a sample of the diverse etiologies and contexts surrounding SCD/E in the military setting that have been captured by Armed Forces Medical Examiner System.
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