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Yield of Postmortem Genetic Testing in Sudden Arrhythmic Death Syndrome: A Systematic Review and Meta-Analysis.
Emanuele Monda1, Sabrina Montuoro2, Lia Crotti3,4
1Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli," Naples, Italy (E.M., M.C., E.B., G.D., G.L.).
Postmortem genetic testing detects significant genetic causes of sudden arrhythmic death syndrome (SADS) in young individuals. This analysis confirms the utility of genetic testing in SADS investigations.
Area of Science:
- Cardiovascular Genetics
- Forensic Genetics
- Molecular Pathology
Background:
- Sudden arrhythmic death syndrome (SADS) involves sudden cardiac death in individuals with structurally normal hearts.
- Underlying causes are often inherited arrhythmia syndromes or cardiomyopathies, detectable through postmortem genetic testing.
- Autopsy-negative SADS cases necessitate advanced diagnostic approaches to identify genetic predispositions.
Conclusions:
- Postmortem genetic testing is valuable, identifying pathogenic or likely pathogenic variants in a substantial proportion of SADS cases.
- This genetic information aids in understanding the etiology of sudden cardiac death and has implications for family screening.
- The findings support the routine integration of genetic testing in the postmortem evaluation of SADS.
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