Genetic Testing – Cardiac

Research investigating the role of genetic testing in the relatives of young sudden death victims

Overview

Problem

Approximately 1000 sudden unexplained deaths occur in young people every year in the UK. The surviving relatives of these individuals may be at risk of similar events or at a minimum be concerned about the possibility. This project has the potential to significantly reduce the number of these deaths that remain unexplained, currently the majority, and provide appropriate targeting of treatment or reassurance to these relatives.

What we have achieved to date

The sudden death of a young person can often be the first sign of one of the genetically-determined syndromes, such as congenital long QT syndrome (LQTS) or catecholaminergic polymorphic ventricular tachycardia (CPVT). There are currently two approaches to genetic testing for surviving relatives. The more common of the two is based on clinical assessment of first degree relatives, with targeted genetic analysis in those with abnormalities. The alternative approach, based on genetic analysis of material taken at post mortem from the sudden death victim, is frequently limited by availability of good quality DNA from retained post-mortem samples.

What we aim to achieve

We aim to evaluate a new third strategy of genetic testing of surviving relatives, despite the absence of clinical markers of genetic disease, using the power of next generation DNA sequencing, based on a simple blood test. We will screen a panel of genes relevant to LQTS, CPVT and other syndromes in 50 parents in whom a structural or genetic cause for sudden death in the family has not been identified or excluded by other means. This will thereby offer appropriate preventative treatment in surviving family members.