Understanding variability in the phenotype of long QT syndrome
Research type
Research Study
Full title
Understanding variability in phenotype, and assessing the risk of serious cardiac events, in women and children with long QT syndrome.
IRAS ID
135452
Contact name
Catriona Brown
Contact email
Duration of Study in the UK
0 years, 8 months, 30 days
Research summary
Congenital long QT syndrome (LQTS) is an inherited disorder of the electrical system of the heart, altering the “QT interval” on a heart tracing and resulting in potentially fatal heart rhythm disturbances. It has a prevalence of 1 in 2,000 to 1 in 3,000 in the UK. Some affected people live long lives without symptoms, whilst others have symptoms ranging from loss of consciousness (syncope) to death. Risk of death is highest from childhood to young adulthood in males, and in women, during the nine month post-partum period. However, even in family members with the same genetic mutations, symptom severity can vary dramatically. Genetic modifiers (small mild DNA sequence variations) might have effects on QT interval and symptoms. We plan to investigate these modifiers in people with LQTS, and in the Scottish population, to determine if they are associated with disease severity and could be used in future to identify people who are at greater risk of having a worse outcome from the condition, with longer QT intervals and possibly requiring more intensive treatments. Beta-blocker medications can improve outcome in people with LQTS and the implantable cardioverter defibrillator (ICD) is recommended in patients at high risk of sudden death. The challenge is to identify those at greatest risk. With this pilot study into the possible effects of genetic modifiers, we hope to inform a future study in which we would validate these findings.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
15/LO/0125
Date of REC Opinion
15 Jan 2015
REC opinion
Favourable Opinion