Key result
Genetic mutations in genes responsible for sarcomere proteins, desmosomes, and membrane channels are associated with morphological markers of cardiomyopathy in young sudden cardiac death.
Why the study?
Forensic medical interpretation of molecular genetic research in young individuals who died suddenly remains challenging, particularly regarding the relationship between cardiomyopathy morphology and underlying genetic mutations.
This review highlights the association between morphological markers of cardiomyopathy and genetic mutations to improve the accuracy of forensic diagnosis in cases of sudden cardiac death in the young.
This paper provides a review of the modern literature devoted to the problem of forensic medical interpretation of the molecular genetic research of the young who died suddenly. The authors attempted to draw a parallel between the morphological markers of different variants of cardiomyopathy as the most common disease in sudden death at a young age and the association with genetic mutations in the genes responsible for the synthesis of sarcomer proteins, desmos and membrane channels. Based on the results of the analysis, further research is proposed to improve the accuracy of forensic diagnosis in cases of young deaths.
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Pigolkin et al. (2019) conducted a review in Sudden cardiac death in the young with cardiomyopathy. Genetic mutations in genes for sarcomere proteins, desmosomes, and membrane channels was evaluated. Genetic mutations in genes responsible for sarcomere proteins, desmosomes, and membrane channels are associated with morphological markers of cardiomyopathy in young sudden cardiac death.
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