The Prevalence of Long QT Syndrome Gene
Variants in SIDS
Around 350 infants die suddenly and unexpectedly in the UK each year. In around
20% a cause will be found after full death scene investigation, clinical history and full
post mortem. Those in whom a cause is not found, are given a diagnosis of SIDS
(Sudden Infant Death Syndrome) or unexplained/ unascertained. A recent Italian
Norwegian study using anonymous tissue from SIDS cases demonstrated that 10%
carried mutations causing the long QT syndrome (LQTS) a leading cause for sudden
death in adults. Following Parental consent we will establish the frequency of these
genetic variants in a cohort of infants with a diagnosis of Sudden Infant Death
syndrome. By studying the families of SIDS found to have the mutations we will
establish if the mutation is denovo or familial allowing all affected family members to
be offered preventive treatment.
CSP Ref : 22424
Principle Investigator : Phil Cox
Email : phillipcox@bwhct.nhs.uk