A pilot project to identify family members at risk of Sudden Cardiac Death.

What is Sudden Cardiac Death?

Sudden cardiac death (SCD) is when someone passes away unexpectedly and comprehensive investigations, including post-mortem examination of the heart, suggest an underlying cardiac condition.

Some of these conditions may be inherited, meaning that families may benefit from genomic testing to establish a diagnosis.

Coroners are independent judicial officers, who investigate unexplained deaths.   They make whatever inquiries are necessary to find out the cause of death, including ordering a post-mortem examination.

SCD can be confirmed at post-mortem by the identification of a cardiomyopathy (damage to the heart muscle).  In situations where a cardiomyopathy is not present, the pathologist may suggest suspected SCD due to an arrythmia (an irregular heartbeat and the other main cause of SCD) which cannot be detected by post-mortem.  With the family’s consent, genomic testing of the patient’s DNA after death can sometimes confirm the underlying cause of SCD.

How will this project make a difference?

Led by NHS East GMS Alliance, this project aims to develop an integrated pathway that enables all families, where SCD is confirmed or suspected by the Coroner’s Office, to access genomic testing on stored DNA.

This pathway will invite family members of anyone who dies from cardiomyopathy or suspected arrythmia to access genomic testing.

The GMSAs are working with partners, the Coronial Service, the British Heart Foundation, Cardiac Risk in the Young and Inherited Cardiac Condition clinics, to help identify families where SCD has occurred, offer them genomic testing, and monitor and manage their condition.  This approach will help reduce the risk of other family members experiencing SCD.

A comparison between whole genome sequencing and non-whole genome sequencing will also be undertaken to improve the current genomic tests offered.

What are we doing in the North East and Yorkshire?

We have established the pathway with the Coroner’s Office and pathologist, and the Coroner’s Office has been trained in how to request consent from families.  We have also identified a specialist cardiac nurse, who is ready to support families identified through the pathway.

How can I learn more?

Contact us to learn more.

[email protected] 

Our Project team are:

Prof. Nigel Wheeldon, Consultant Cardiologist and Lead of the Sheffield Inherited Cardiac Clinic (ICC)
Dr. Jackie Cook, NEY GMSA Clinical Director