Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

Abstract

Sudden cardiac death (SCD) is by definition unexpected and cardiac in nature. The investigation is almost invariably performed by a forensic pathologist. Under these circumstances the role of the forensic pathologist is twofold: (1.) to determine rapidly and efficiently the cause and manner of death and (2.) to initiate a multidisciplinary process in order to prevent further deaths in existing family members. If the death is determined to be due to "natural" causes the district attorney in charge often refuses further examinations. However, additional examinations, i.e. extensive histopathological investigations and/or molecular genetic analyses, are necessary in many cases to clarify the cause of death. The Swiss Society of Legal Medicine created a multidisciplinary working group together with clinical and molecular geneticists and cardiologists in the hope of harmonising the approach to investigate SCD. The aim of this paper is to close the gap between the Swiss recommendations for routine forensic post-mortem cardiac examination and clinical recommendations for genetic testing of inherited cardiac diseases; this is in order to optimise the diagnostic procedures and preventive measures for living family members. The key points of the recommendations are (1.) the forensic autopsy procedure for all SCD victims under 40 years of age, (2.) the collection and storage of adequate samples for genetic testing, (3.) communication with the families, and (4.) a multidisciplinary approach including cardiogenetic counselling.

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

“…communication with the families, and (4.) a multidisciplinary approach including cardiac genetic counseling[19]. Though, despite these recommendations and the increasing availability of NGS technology, it is yet seldom performed in most forensic centers as part of the autopsy.…”

“…Despite that current forensic guidelines recommend molecular autopsy as part of routine protocol in SUD cases, this is seldom performed[18, 19]. This molecular investigation has been mainly limited to research projects, and usually constrained to the analysis of the most prevalent genes associated with channelopathies (KCNQ1 , KCNH2 , SCN5A and RYR2) , leaving several potential candidate genes untested [20, 21].…”

Sports-related sudden cardiac deaths in the young population of Switzerland

“…The preliminary forensic examination is an investigation of the scene, evaluation of the medical history and thorough external examination of the corpse, mostly performed by a forensic pathologist. The district attorney decides if further examination, such as an autopsy, is necessary in a case-based approach [11]. Based on a recent study in the Swiss canton of Vaud, the autopsy rate in young SCD victims is 47.5% [12].…”

Molecular Autopsy in SIDS Cases

“…In these situations, a comprehensive genetic analysis may unravel the cause of death (called molecular autopsy). Hence, it should be considered as a part of the comprehensive medico-legal investigation in SCD cases without structural heart alterations, especially in infants and young people [8]. The genetic study is crucial for identify the cause of death in an infant but also for relatives due to all these arrhythmogenic syndrome are inherited and other family members could be at risk of SCD [9].…”