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Published on: July 19, 2019
[Molecular investigation of sudden death]
Elisa Carturan1, Cristina Basso, Gaetano Thiene
1Sezione di Anatomia Patologica Speciale, Dipartimento di Scienze Medico-Diagnostiche e Terapie Speciali, Università degli Studi, Padova. elisa.carturan@unipd.it
Insights
Sudden death in young people, including sudden infant death syndrome, is often linked to genetic ion channel diseases or viral myocarditis. Molecular pathology post-mortem investigations are crucial but require standardized protocols for accurate results.
Area of Science:
- Forensic Pathology
- Molecular Pathology
- Cardiology
Context:
- Juvenile sudden death and sudden infant death syndrome (SIDS) have profound social impacts.
- Genetic ion channel diseases (e.g., Brugada syndrome, Long QT, Short QT, CPVT) and viral myocarditis are significant causes.
- Current post-mortem examinations may lack molecular investigation capabilities.
Purpose:
- To highlight the necessity of molecular pathology in post-mortem examinations for sudden death cases.
- To advocate for the development of standardized molecular investigation protocols.
- To improve the accuracy and efficacy of post-mortem diagnostics for sudden cardiac death.
Summary:
- This review emphasizes the growing role of molecular pathology in understanding juvenile sudden death and SIDS.
- Identifies genetic ion channelopathies and viral myocarditis as key etiological factors.
- Underscores the challenges posed by post-mortem intervals and tissue preservation on molecular analysis.
Impact:
- Establishes the need for a dedicated molecular pathology protocol for post-mortem investigations.
- Aims to enhance diagnostic yield in sudden death cases, potentially identifying genetic predispositions.
- Could lead to improved genetic counseling and preventative strategies for at-risk families.
Abstract:
Juvenile sudden death and sudden infant death syndrome exert a deep social impact, due to the young age of the victims and the unexpected occurrence of death. Recently, genetically determined ion channel diseases have been demonstrated to account for many forms of juvenile sudden death sine materia and also for some cases of sudden infant death syndrome (Brugada syndrome, long QT and short QT syndromes and catecholaminergic polymorphic ventricular tachycardia). Moreover, a not negligible amount of juvenile sudden deaths are due to myocarditis as a consequence of cardiotropic viruses. Thus, it is now becoming mandatory to apply molecular pathology techniques also to the post mortem study of sudden death. In general, a long interval between death and post mortem exam and inadequate tissue sampling and preservation may increase the poor results of molecular investigation. The aim of this review was to provide evidence of the need to develop a molecular pathology investigation protocol to be used at post mortem.
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