PT  - JOURNAL ARTICLE
AU  - Van Niekerk, Chantal
AU  - Van Deventer, Barbara Ströh
AU  - du Toit-Prinsloo, Lorraine
TI  - Long QT syndrome and sudden unexpected infant death
AID  - 10.1136/jclinpath-2016-204199
DP  - 2017 Sep 01
TA  - Journal of Clinical Pathology
PG  - 808--813
VI  - 70
IP  - 9
4099  - http://jcp.bmj.com/content/70/9/808.short
4100  - http://jcp.bmj.com/content/70/9/808.full
SO  - J Clin Pathol2017 Sep 01; 70
AB  - Long QT syndrome (LQTS) is an inheritable primary electric disease of the heart characterised by abnormally long QT intervals and a propensity to develop atrial and ventricular tachyarrhythmias. It is caused by an inherited channelopathy responsible for sudden cardiac death in individuals with structurally normal hearts. Long QT syndrome can present early in life, and some studies suggest that it may be associated with up to 20% of sudden unexplained infant death (SUID), particularly when associated with external stressors such as asphyxia, which is commonly seen in many infant death scenes. With an understanding of the genetic defects, it has now been possible to retrospectively analyse samples from infants who have presented to forensic pathology services with a history of unexplained sudden death, which may, in turn, enable the implementation of preventative treatment for siblings previously not known to have pathogenic genetic variations. In this viewpoint article, we will discuss SUID, LQTS and postmortem genetic analysis.