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.
|Numero di pagine||3|
|Rivista||EuroMediterranean Biomedical Journal|
|Stato di pubblicazione||Published - 2012|
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