To investigate the impact of age and sex on the overall diagnostic yield and underlying aetiology in decedents with sudden arrhythmic death syndrome (SADS), highlighting the significance of familial evaluation and molecular autopsy in improving diagnostic outcomes.
Key Findings:
Overall diagnostic yield for an inherited cardiac condition was 37% for familial evaluation and 9% for molecular autopsy cohorts, indicating a need for improved diagnostic strategies.
In cases where both familial evaluation and molecular autopsy were performed, the diagnostic yield was 45%, suggesting the benefit of a combined approach.
Females had a higher diagnostic yield than males for both familial evaluation (40% vs. 36%) and molecular autopsy (15% vs. 6%), emphasizing gender differences in SADS outcomes.
The likelihood of diagnosing long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) declined with increasing age, highlighting the importance of age in diagnostic considerations.
Females were more likely to be diagnosed with LQTS in the molecular autopsy cohort (8.1% vs. 1.2% for males), indicating a potential area for targeted research.
Interpretation:
The study underscores the critical role of age and sex in the diagnostic evaluation of SADS, revealing a higher yield of inherited cardiac conditions in females and younger individuals, which could inform clinical practices.
Limitations:
Retrospective design may introduce selection bias, potentially affecting the generalizability of the findings.
Findings may not be applicable to populations outside the studied demographic, necessitating further research.
Conclusion:
A combined approach of familial evaluation and molecular autopsy can yield a diagnostic rate of up to 45% following SADS deaths, with significant differences based on age and sex, which is crucial for improving future diagnostic protocols.
by Belinda Gray, Elijah R Behr, Efstathios Papatheodorou, Athanasios Bakalakos, Hariharan Raju, Yanushi D Wijeyeratne, Gherardo Finocchiaro, Aneil Malhotra, Nicola Whiffin, James S Ware, Maria Tome Esteban, Mary N Sheppard, Sanjay Sharma, Michael Papadakis
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