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[Autopsies are essential for a better knowledge and prevention of sudden cardiac death]
Paul Fornès1, Domitille Callon1
1Laboratoire de biopathologie, hôpital Robert-Debré, institut-médico-légal, CHU, avenue du Général-Koenig, 51100 Reims, France.
Insights
Sudden cardiac death (SCD) in young individuals requires a multidisciplinary autopsy approach. Comprehensive investigations, including molecular autopsy, are crucial for identifying diverse causes and preventing future genetic SCD events.
Area of Science:
- Forensic Pathology
- Cardiology
- Genetics
Background:
- Sudden cardiac death (SCD) affects 30,000-50,000 individuals annually in France.
- While atherosclerotic coronary disease causes most SCD in the general population, younger individuals (<35 years) experience diverse causes, including genetic factors.
- A comprehensive, multidisciplinary strategy is essential for understanding and preventing SCD.
Purpose of the Study:
- To examine various autopsy and complementary investigation aspects for SCD.
- To highlight the importance of a multidisciplinary approach through case examples.
- To emphasize the role of molecular autopsy in identifying genetic causes of SCD in young individuals.
Main Methods:
- Review of autopsy procedures, distinguishing between medicolegal and medical autopsies.
- Discussion of complementary investigations: histopathology, toxicology, biochemistry, genetics, and virology.
- Analysis of six illustrative cases demonstrating the value of a multidisciplinary approach.
Main Results:
- Medicolegal autopsies, performed by non-pathologists, may have limited analyses requested by judicial authorities, potentially leaving causes of death uncertain.
- Medical autopsies, conducted by pathologists with family consent, allow for comprehensive analyses essential for precise cause-of-death determination.
- Molecular autopsy, alongside traditional methods, is vital for uncovering genetic etiologies of SCD in younger populations.
Conclusions:
- A multidisciplinary approach integrating various investigative techniques is critical for accurate SCD diagnosis.
- Medical autopsies with comprehensive testing, including molecular autopsy, are superior for determining the cause of death, especially in young individuals.
- Identifying specific causes, particularly genetic ones, through thorough autopsy is key to preventing future sudden cardiac deaths.
Abstract:
In France, the incidence of sudden cardiac deaths (SCD) is approximately 30,000-50,000 per year. In the whole population, their cause is an atherosclerotic coronary disease in more than 80 % of cases, but in the young (<35 years old), causes are various, including genetic, infectious, toxic, congenital anomalies, immune…Therefore a multidisciplinary approach is required for a better knowledge and prevention of SCD. In this article, we examine different aspects of autopsies and complementary investigations: histopathology, toxicology, biochemistry, genetics and virology. Six cases illustrate the importance of a multidisciplinary approach. There are two categories of autopsies: medicolegal or medical. Medicolegal autopsies are requested by a judicial authority when a death is considered suspicious. These autopsies are performed by forensic doctors. Most of them are not pathologists. During the autopsies, blood and tissue samples are taken, but analyses are done only at the request of the judicial authority if the analyses are useful for the truth. Consequently, the cause of death can remain uncertain. Medical autopsies are performed by a pathologist at the request of a clinician. The family consent is required. Useful analyses are performed, which is essential for the determination of a precise cause of death. In the young, "molecular autopsy", in addition to histology and other analyses, is essential in preventing genetic causes of SCD.
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