It is hypothesised that some cases of sudden unexplained infant death can be attributed to the long QT syndrome. This has been explored by a prospective, population-based molecular autopsy study conducted by the Cardiac Inherited Diseases Group, a New Zealand national multidisciplinary group. Over a 26 month period (2006-2008) DNA was stored from all cases of sudden unexpected infant death at the time of autopsy. Those cases in which the cause of death was unascertained ('sudden infant death syndrome') underwent genetic testing to look for the long QT syndrome. Positive cases triggered cardiac and genetic evaluation of first-degree relatives. In this talk, the results of this will be presented and the conclusions, with implications for autopsy practice will be discussed.
(C) 2013 Royal College of Pathologists of Australasia