Arrhythmias & electrophysiology
Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation
Authors' conclusion
In this 7-year countywide study, 2% of total sudden deaths and 2.5% of confirmed SCDs had identifiable genetic cause, corrected for genotype-phenotype concordance.
Study context
- Population
- Unselected presumed sudden cardiac death (SCDs) aged 18 to 90 years referred to the county medical examiner, February 2011 to January 2018genetically tested, of 856 autopsied
- Participants
- 306 participants
- Outcome
- Burden (yield) of genetic disease: autosomal dominant or X-linked P/LP variants, corrected for genotype-phenotype concordance
Methodological detailscountywide, postmortem genotype-phenotype correlation, Autopsy, histology and toxicology to adjudicate cause; 231 sudden death–associated genes tested
- Countywide
- Postmortem genotype-phenotype correlation
- Autopsy, histology and toxicology to adjudicate cause; 231 sudden death–associated genes tested
Main finding
As reported in the abstract
P/LP variant yield
Cases with autosomal dominant or X-linked P/LP variants
14
Apparent yield
4.6%
Cases with concordant cause
6
Corrected yield
2%
Observational data: associations, not effects.
Further findings
Yield in autopsy-confirmed cardiac causes and high-suspicion phenotypes
- Autopsy-confirmed cardiac causes
- 2.5%
- High-suspicion phenotypes
- 2.7%
- Yields similar
High-suspicion phenotype
- Cases meeting high-suspicion phenotype criteria
- 8.8%
- High-suspicion cases tested
- 36
- Family history of related condition or sudden death
- One-half
- 75 cases
Myocardial genotyping (somatic mosaicism)
- Myocardial genotyping in 14 high-suspicion decedents matched negative blood genotyping; no support for somatic mosaicism
Original publication
Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation. JACC Clin Electrophysiol. Published 18 December 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →