Key result
Postmortem genetic testing identifies causative mutations in ~25% of exertional SCDs, enabling family screening.
Why the study?
Despite medical screening at recruitment, significant cardiac conditions can go undetected in young recruits, and exertional sudden cardiac death is often the first indication of occult cardiac pathology.
Case Report (n=4)
No
Postmortem genetic testing in cases of exertional sudden cardiac death can identify pathogenic mutations, enabling cascade screening of family members.
Hypothesis-generating for postmortem genetic testing in exertional SCD; larger studies needed before routine adoption.
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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McLeod et al. (2023) conducted a case report in Exertional-related sudden cardiac death (SCD/E) (n=4). Postmortem genetic testing was evaluated on Identification of causative pathogenic mutation. Postmortem genetic testing revealed a causative pathogenic mutation in 1 of 4 cases of exertional-related sudden cardiac death in US military personnel, enabling family screening.
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