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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http://dx.doi.org/10.1016/j.forsciint.2022.111240 | DOI Listing |
Eur J Prev Cardiol
December 2024
Cardiovascular and Genomics Institute, City St George's University of London, Cranmer Terrace, London SW17 0RE, UK.
Aims: Sudden arrhythmic death syndrome (SADS) refers to a sudden death, which remains unexplained despite comprehensive post-mortem examination and a toxicological screen. We aimed to investigate the impact of age and sex on the overall diagnostic yield and underlying aetiology in decedents with SADS using a combined approach of familial evaluation (FE) and molecular autopsy (MA).
Methods And Results: Consecutive referrals to a single centre for FE only, MA only or both, following a SADS death were included.
Dev Med Child Neurol
December 2024
Department of Pediatrics, McMaster University, Hamilton, Canada.
Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID). In older children, a less understood phenomenon known as sudden unexplained death in childhood (SUDC) has garnered attention.
View Article and Find Full Text PDFEquine Vet J
December 2024
Department of Pathobiology and Population Sciences, Royal Veterinary College, Hatfield, Hertfordshire, UK.
Background: The British horseracing industry is committed to reducing equine fatalities in jump racing. Race-related fatalities are a major welfare concern and threaten the sport's social licence to operate.
Objectives: To describe the risk of, and determine risk factors for, fatality in British jump racing.
Arch Dis Child
December 2024
Institute of Applied Research, University of Birmingham, Birmingham, UK.
Background: Understanding why children die is important for grieving parents and for informing system improvements aimed at prevention and future care. Many countries have child death review (CDR) process, but little is known about how best to engage parents. The aim of this study was to use experience-based co-design to create a toolkit to support parental involvement in CDR.
View Article and Find Full Text PDFLancet
November 2024
Department of Cardiology, Lausanne University Hospital, Lausanne, Switzerland.
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