Molecular autopsy for sudden unexplained death? Time to discuss pros and cons

摘要

The study by Winkel et al) reports data on the yield of molecular autopsy in a Danish population. The authors had access to DNA obtained from 44 of 136 cases of sudden unexplained death (SUD) at young age (<35 years) that occurred in Denmark between 2000 and 2006. The objective of the study was to screen the samples for mutations in the genes responsible for the most prevalent forms of long QT syndrome (LQTS). It is important to clarify that, indeed, the authors did much more than that. By screening for mutations in the open reading frame of KCNQ1, KCNH2, and SCN5A, in fact, they also assessed the presence of mutations causing the most common forms of short QT syndrome (SQTS) and Brugada syndrome, that are associated with the same genes related to LQTS type 1, type 2, and type 3.