RT Journal Article
SR Electronic
T1 Long QT syndrome and sudden unexpected infant death
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 808
OP 813
DO 10.1136/jclinpath-2016-204199
VO 70
IS 9
A1 Van Niekerk, Chantal
A1 Van Deventer, Barbara Ströh
A1 du Toit-Prinsloo, Lorraine
YR 2017
UL http://jcp.bmj.com/content/70/9/808.abstract
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.