Key result
A multidisciplinary forensic approach including molecular autopsy identified pathogenic or likely pathogenic genetic variants in 50% (5 of 10) of sudden unexplained death cases.
Why the study?
In young persons aged 1 to 40 years, most SCDs are caused by potentially inherited cardiac diseases often undetectable during conventional medico-legal investigations, prompting the need for standardized multidisciplinary investigation protocols.
Does a standardized multidisciplinary procedure including molecular autopsy improve the identification of genetic causes and at-risk relatives in sudden unexplained death cases?
Observational (n=39)
No
Does a standardized multidisciplinary procedure including molecular autopsy improve the identification of genetic causes and at-risk relatives in sudden unexplained death cases?
A multidisciplinary approach including molecular autopsy in sudden unexplained death cases successfully identifies genetic causes in 50% of cases and helps detect at-risk relatives for primary prevention.
Sudden cardiac death (SCD) is an important public health issue. In young persons aged between 1 and 40 years, most SCDs are caused by potentially inherited cardiac diseases, often not detectable during conventional medico-legal investigations and therefore termed as sudden unexplained deaths (SUD). In this study, we describe the implementation, feasibility and importance of a standardized procedure to investigate SUD cases within the forensic framework at the Zurich Institute of Forensic Medicine in Switzerland. This new approach involves a multidisciplinary collaboration including forensic autopsy, second pathology expert opinion, post-mortem molecular genetic testing, cardiac counselling of relatives, and a tentative financing. This procedure is in line with the published Swiss and European recommendations on the management of SCDs. During a two-year pilot project, 39 sudden and unexpected death cases were collected, whereof 10 deceased remained without any identifiable cause of death after medico-legal investigation and second expert evaluation. Molecular autopsy, including 393 genes involved in cardio-vascular and metabolic diseases, identified eight pathogenic or likely pathogenic genetic variants in five out of the 10 deceased (50%). Cardio-genetic follow-up investigations in the families of the 10 deceased revealed phenotype-positive relatives in four families and required specific therapies, including an implantable cardioverter defibrillator (ICD) for primary prevention. Multidisciplinary collaboration is crucial for an optimal management of sudden unexplained death cases, to identify additional relatives at risk, and to prevent other tragic deaths within a family.
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Neubauer et al. (2022) conducted an observational in Sudden unexplained death (n=39). Multidisciplinary forensic investigation approach was evaluated on Identification of pathogenic or likely pathogenic genetic variants in unexplained cases. A multidisciplinary forensic approach including molecular autopsy identified pathogenic or likely pathogenic genetic variants in 50% (5 of 10) of sudden unexplained death cases.
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