Prospects for histomorphological and genetic diagnosis of autopsy-negative sudden cardiac death

Boris N. Kulbitskiy; Olga A. Vladykina; Dmitry V. Bogomolov; Anastasya I. Kadykova; Roman V. Deev

doi:10.17816/fm16192

Russian Journal of Forensic Medicine ›› 2024, Vol. 10 ›› Issue (4) :589 -601. DOI: 10.17816/fm16192

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Prospects for histomorphological and genetic diagnosis of autopsy-negative sudden cardiac death

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Abstract

This article presents the prospects of histological and genetic diagnosis in cases of sudden cardiac death where primary autopsy findings do not reveal obvious pathological changes.

In recent years, the number of autopsy-negative sudden cardiac deaths has increased, creating a need for more precise diagnostic methods to determine the cause of death and potentially prevent such cases in the future. The article examines modern histological examination techniques for cardiac tissues, as well as molecular genetic testing approaches that may be useful in identifying subclinical conditions leading to sudden cardiac death.

Molecular genetic methods for investigating sudden cardiac death remain underexplored. To date, large-scale studies on the molecular genetic causes of such fatalities are lacking in Russia, highlighting the need for further research at the intersection of medical genetics, pathological anatomy, and forensic medicine.

This article provides a brief review of histological and genetic diagnosis of sudden cardiac death, where the authors propose integrating these methods into the diagnostic process to enhance their effectiveness in pathological and forensic medical practice. The authors emphasize the necessity of further research, including the application of advanced technologies in histological and genetic analysis, as well as big data analytics to identify new pathological mechanisms of sudden cardiac death.

Medical genetic counseling on predisposition to sudden cardiac death can help identify at-risk individuals and reduce mortality. In the future, it may become possible to establish links between genetic predictors of sudden cardiac death and defects in myocardial contractile protein expression, with subsequent confirmation using immunohistochemical analysis.

Keywords

sudden cardiac death / autopsy-negative cardiac death / pathological anatomy / histology / genetic profiling / cardiac pathology / macroscopic assessment / hidden pathological processes / genetic mutations

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Boris N. Kulbitskiy, Olga A. Vladykina, Dmitry V. Bogomolov, Anastasya I. Kadykova, Roman V. Deev. Prospects for histomorphological and genetic diagnosis of autopsy-negative sudden cardiac death. Russian Journal of Forensic Medicine, 2024, 10(4): 589-601 DOI:10.17816/fm16192

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