Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young [Original Articles]

Conclusions— Molecular screening in this clinical scenario is appropriate with a pathogenic mutation detection rate of 44% using direct DNA sequencing followed by whole-exome sequencing. Only 5 of the 100 interrogated sudden death genes hosted actionable pathogenic mutations for more than one third of these exertion-related, autopsy-negative SUDY cases.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Sudden Cardiac Death, Ion Channels/Membrane Transport, Pediatrics, Genetics Original Articles Source Type: research