SUDDEN UNEXPLAINED JUVENILE DEATH AND THE ROLE OF MEDICOLEGAL INVESTIGATION: UPDATE ON MOLECULAR AUTOPSY
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In the past few years, contributions of molecular biology assays to the investigation of sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sud- den arrhythmic death, opening the way to preventive action on victims’ relatives.
We reviewed literature on the genetics of sudden juvenile death, and on molecular biol- ogy assays performed on autoptic samples.
Biological investigation permits the detection of genetic mutations underlying the suscep- tibility to sudden cardiac death of individuals with rare inherited forms of arrhythmia (Long QT Syndrome, Brugada Syndrome, Lev’s disease etc.) through the analysis of criti- cal sequences codifying for ion channel subunits (HERG, KvLQT1, MinK, Mirp1, SCN5A, KCNQ1, KCNH2, KCNE1, KCNE2).
The main objective of post-mortem investigation in sudden juvenile death is the detection of treatable monogenic inherited disorders, in order to prevent further deaths among the relatives of the deceased patient.
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