Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices

Abstract

Autopsy-negative sudden cardiac deaths (SCD) seen in forensic practice are most often thought to be the result of sudden arrhythmic death syndrome. Postmortem genetic analysis is recommended in such cases, but is currently performed in only a few academic centers. In order to determine actual current practice, an on-line questionnaire was sent by e-mail to members of various forensic medical associations. The questions addressed routine procedures employed in cases of sudden cardiac death (autopsy ordering, macroscopic and microscopic cardiac examination, conduction tissue examination, immunohistochemistry and electron microscopy, biochemical markers, sampling and storage of material for genetic analyses, toxicological analyses, and molecular autopsy). Some questions concerned the legal and ethical aspects of genetic analyses in postmortem examinations, as well as any existing multidisciplinary collaborations in SCD cases. There were 97 respondents, mostly from European countries. Genetic testing in cases of sudden cardiac death is rarely practiced in routine forensic investigation. Approximately 60% of respondents reported not having the means to perform genetic postmortem testing and 40% do not collect adequate material to perform these investigations at a later date, despite working at university hospitals. The survey demonstrated that many of the problems involved in the adequate investigation of SCD cases are often financial in origin, due to the fact that activities in forensic medicine are often paid by and dependent on the judicial authorities. Problems also exist concerning the contact with family members and/or the family doctor, as well as the often-nonexistent collaboration with others clinicians with special expertise beneficial in the investigation of SCD cases, such as cardiologists and geneticists. This study highlights the importance in establishing guidelines for molecular autopsies in forensic medicine.

Differences in investigations of sudden unexpected deaths in young people in a nationwide setting

“…Each country has its own law stating who should be autopsied [20]. In Denmark, we have 34 medical officers of public health and a few forensic pathologists, who together carry out all external examinations.…”

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

“…Despite all the above recommendations for the implementation of genetic screening in the current forensic autopsy practices, a recent survey conducted mainly in European countries has shown a very limited application of genetic testing in cases of sudden cardiac death in routine forensic investigation, only 40% of the responders have the possibility to perform the genetic testing [33]. This survey also shows that many of the problems involved in the adequate investigation of SCD cases are financial in origin, Taking into account the efficiency of both MassArray strategies, it was clearly demonstrated that LQTS strategy [10], should be upgraded, since none of the mutations presented in our cases were included in the panel considered for the MassArray mutation screening; all of them were detected by direct sequencing of KCNQ1 and KCNH2 genes.…”

Investigative practice into sudden death in epilepsy: A global survey

“…Both faiths have permitted exceptions . Alternative options include genetic assessments, or post‐mortem imaging based autopsy . While not validated for SUDEP these techniques may offer potential to exclude competing causes of death.…”