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Long QT syndrome and sudden unexpected infant death
  1. Chantal Van Niekerk1,2,
  2. Barbara Ströh Van Deventer3,
  3. Lorraine du Toit-Prinsloo3
  1. 1Department of Chemical Pathology, National Health Laboratory Service, Johannesburg, Gauteng, South Africa
  2. 2Department of Chemical Pathology, University of Pretoria, Pretoria, South Africa
  3. 3Department of Forensic Medicine, University of Pretoria, Pretoria, South Africa
  1. Correspondence to Dr Chantal Van Niekerk, R3-43 Pathology Building, Prinshof Campus, University of Pretoria, Pretoria 0002, South Africa; chantal.vanniekerk{at}up.ac.za

Abstract

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.

  • DNA
  • FORENSIC PATHOLOGY
  • SIDS

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Footnotes

  • Contributors All three authors were involved in the conception, writing and editing of this paper.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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