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Phenotype-driven molecular autopsy for sudden cardiac death
F Cann1, M Corbett2, D O'Sullivan3
1Department of Clinical Genetics, Ashgrove House, Aberdeen, Scotland.
Clinical Genetics
|March 23, 2016
Summary
Molecular autopsy identified genetic variants in 15% of sudden arrhythmic deaths and 18% of cardiomyopathy deaths. This approach aids in diagnosing inherited heart conditions and guiding family screening.
Area of Science:
- Cardiology
- Genetics
- Forensic Medicine
Background:
- Sudden cardiac death (SCD) often lacks clear causes.
- Molecular autopsy can identify genetic underpinnings of SCD.
- A multidisciplinary approach is crucial for accurate diagnosis.
Purpose of the Study:
- To evaluate a phenotype-driven molecular autopsy protocol.
- To determine the diagnostic yield of genetic testing in SCD.
- To assess the impact of molecular autopsy on family screening.
Main Methods:
- A 13-year study of 96 sudden cardiac death cases.
- Multidisciplinary team including genetics, forensic medicine, and cardiology.
- Genetic analysis focused on ion channelopathy and cardiomyopathy genes.
Main Results:
- Likely pathogenic variants found in 15% of suspected arrhythmic deaths (ion channelopathies).
- Likely pathogenic variants found in 12-27% of cardiomyopathy cases (ARVC, DCM, HCM).
- Molecular diagnosis increased cascade screening uptake in relatives.
Conclusions:
- Phenotype-driven molecular autopsy is effective in diagnosing genetic causes of SCD.
- Genetic variants were identified in a significant proportion of SCD cases.
- Molecular autopsy facilitates genetic counseling and family-based screening.
