Key result
Post-mortem genetic investigation using next-generation sequencing identified potentially pathogenic variants in nearly 50% of suspected inherited cardiomyopathy cases and 41.2% of unexplained sudden deaths.
Why the study?
Does post-mortem genetic investigation identify the etiology of sudden unexplained death in individuals under 50 years old?
Population
789 consecutive cases of sudden death from non-violent causes, <50 years old, 77.19% male, from the…
Design
Cohort
Authors
Loading...
May support cascade screening in young sudden death families; leaves open routine adoption pending prospective data.
Observational (n=789)
Does post-mortem genetic investigation identify the etiology of sudden unexplained death in individuals under 50 years old?
Molecular autopsy using next-generation sequencing can identify potentially pathogenic genetic variants in up to 40-50% of young sudden death cases that remain unexplained after standard autopsy, enabling cascade screening for at-risk relatives.
Sanchez et al. (2016) conducted an observational in Sudden natural death (n=789). Molecular autopsy (Next Generation Sequencing) was evaluated on Identification of potentially pathogenic variants or disease-causing mutations in unexplained sudden death cases. Post-mortem genetic investigation using next-generation sequencing identified potentially pathogenic variants in nearly 50% of suspected inherited cardiomyopathy cases and 41.2% of unexplained sudden deaths.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: