Challenges of genetics in the diagnosis of sudden cardiac death. Interest of forensic and legal medicine

Med Clin (Barc). 2024 Nov 18:S0025-7753(24)00614-6. doi: 10.1016/j.medcli.2024.10.002. Online ahead of print.
[Article in English, Spanish]

Abstract

Sudden cardiac death is the leading cause of death in developed countries and a small but significant number of cases cannot be explained after a thorough autopsy process. Cases of sudden cardiac death in people under 40years of age are mainly due to structural heart disease or cardiomyopathies and arrhythmogenic diseases or channelopathies. In these cases, the search for associated genetic factors through molecular autopsy may help to find the cause of unexplained sudden cardiac death, through genetic diagnosis of previously undiagnosed channelopathies or cardiomyopathies. The finding of genetic variants classified as pathogenic associated with cardiac pathology would conclude the autopsy result and provide the possibility of genetic screening in other family members.

Keywords: Autopsia molecular; Canalopatía; Cardiomyopathy; Channelopathy; Genetic variant; Miocardiopatía; Molecular autopsy; Muerte súbita cardíaca; Secuenciación; Sequencing; Sudden cardiac death; Variante genética.

Publication types

  • Review