Modern Molecular Genetic Approaches in Forensic Investigation of Sudden Cardiac Death

Yana V. Fomina; Фомина Яна Викторовна; Rasul Y. Akmurzaev; Акмурзаев Расул Яналиевич; Anna I. Gagloeva; Гаглоева Анна Измаиловна; Arina A. Dzugutova; Дзугутова Арина Аслановна; Aishat O. Dzhamaldinova; Джамалдинова Айшат Орзалиевна; Lidiya V. Kuleshova; Кулешова Лидия Васильевна; Sabina A. Amirkhanova; Амирханова Сабина Аждаровна; Ekaterina D. Shlyakova; Шлякова Екатерина Дмитриевна; Polina A. Barba; Барба Полина Алексеевна; Polina S. Ishkova; Ишкова Полина Сергеевна; Anastasia A. Mitina; Митина Анастасия Анатольевна; Amaliya R. Vovchenko; Вовченко Амалия Руслановна; Anastasia A. Novikova; Новикова Анастасия Андреевна

doi:10.17816/fm16326

Modern Molecular Genetic Approaches in Forensic Investigation of Sudden Cardiac Death

Authors: Fomina Y.V.¹, Akmurzaev R.Y.², Gagloeva A.I.², Dzugutova A.A.², Dzhamaldinova A.O.², Kuleshova L.V.¹, Amirkhanova S.A.³, Shlyakova E.D.³, Barba P.A.⁴, Ishkova P.S.⁵, Mitina A.A.⁵, Vovchenko A.R.⁵, Novikova A.A.⁵
Affiliations:
1. Kuban State Medical University, Krasnodar, Russian Federation
2. North Ossetian State Medical Academy, Vladikavkaz, Russian Federation
3. Volgograd State Medical University, Volgograd, Russian Federation
4. Ryazan State Medical University named after Academician I. P. Pavlov, Ryazan, Russian Federation
5. N.I. Pirogov Russian National Research Medical University (Pirogov university), Moscow, Russian Federation
Section: Reviews
Submitted: 18.11.2025
Accepted: 06.02.2026
Published: 16.03.2026
URL: https://for-medex.ru/jour/article/view/16326
DOI: https://doi.org/10.17816/fm16326
ID: 16326

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Abstract

Sudden cardiac death remains one of the leading causes of premature mortality, especially among young and middle-aged individuals, while in a considerable number of cases traditional autopsy methods fail to establish a definitive cause of death. The need for novel diagnostic approaches to so-called “unexplained deaths” has led to the emergence and rapid development of the concept of molecular autopsy. This review analyzes the capabilities, limitations, and prospects of applying molecular-genetic methods in forensic medical practice. The paper discusses current understanding of the genetic basis of hereditary arrhythmias and cardiomyopathies, which are the main causes of sudden death in the absence of structural myocardial abnormalities. The evolution of sequencing technologies is described — from the classical Sanger method, which laid the foundation for the first molecular autopsies, to next-generation sequencing that enables simultaneous analysis of hundreds of genes associated with arrhythmogenic conditions. Particular attention is given to the interpretation and classification of genetic variants, the challenges of analyzing variants of uncertain significance, and the importance of their periodic reclassification as new scientific data become available. A separate section highlights the role of family cascade testing as a key preventive tool for identifying at-risk relatives and organizing genetic counseling. The article substantiates the importance of introducing molecular autopsy into the Russian forensic medical system as a means of improving diagnostic accuracy and promoting interdisciplinary integration between forensic medicine, cardiology, and clinical genetics. The analysis concludes that molecular autopsy not only enhances the evidential value of forensic examinations but also provides a foundation for preventive medicine aimed at reducing hereditary cases of sudden death.