Why the study?
Does comprehensive genetic testing including cardiomyopathy genes improve the diagnosis of concealed cardiomyopathy in autopsy-inconclusive sudden cardiac death cases?
Population
91 autopsy-inconclusive sudden cardiac death cases with a structurally normal heart or subdiagnostic…
Design
Cohort
Key result
Genetic testing in autopsy-inconclusive sudden cardiac death identified disease-causing variants in 22% of cases, with similar rates in those with and without subdiagnostic findings (25.5% vs 18.2%).
Authors
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Captured external expert commentary on this paper, strongest first. Original sources are linked where available.
“We believe that the genetic testing of sudden cardiac death cases which are unexplained after autopsy should be broader so that we can identify concealed cardiomyopathy. Identifying the cause of death also helps us provide optimal care for surviving relatives.”
“Our research highlights the wide spectrum of genes implicated in autopsy-inconclusive sudden cardiac death and the importance of identifying concealed cardiomyopathy for the ongoing care of sudden cardiac death families.”
“Identifying concealed cardiomyopathy meant that we found the cause of the young person's death in 14 more families than we would have in this cohort if we hadn't looked at cardiomyopathy genes.”
May support genetic testing after inconclusive SCD autopsy; leaves open prospective validation of family screening protocols.
Observational (n=91)
Does comprehensive genetic testing including cardiomyopathy genes improve the diagnosis of concealed cardiomyopathy in autopsy-inconclusive sudden cardiac death cases?
Absolute Event Rate: 25.5% vs 18.2%
p-value: p=0.398
Comprehensive genetic testing including cardiomyopathy genes in autopsy-inconclusive sudden cardiac death cases identifies a significant proportion of concealed cardiomyopathies, aiding in the diagnosis and management of surviving relatives.
Isbister et al. (2022) conducted an observational in Autopsy-inconclusive sudden cardiac death (n=91). Presence of subdiagnostic findings at autopsy vs. Absence of subdiagnostic findings was evaluated on Identification of disease-causing variants (p=0.398). Genetic testing in autopsy-inconclusive sudden cardiac death identified disease-causing variants in 22% of cases, with similar rates in those with and without subdiagnostic findings (25.5% vs 18.2%).