A young person dying suddenly often went unexplained in the past. Now St George’s researchers are helping to ensure that families receive diagnoses for their loved ones and can be investigated and treated for inherited conditions themselves.
The academic cardiology unit St George’s has been an internationally recognised centre of excellence for research into the sudden death of young people for more than 20 years.
Professor Elijah Behr and Professor Mary Sheppard of the Molecular and Clinical Sciences Research Institute and their colleagues have established many of the recommended processes that occur when a young person dies suddenly without explanation.
The St George’s team were chosen to lead on the Sudden Death Syndrome (SDS) study, which investigated all sudden deaths that occurred in a 12-month period ending in 2000. During this time, the St George’s team performed additional specialist cardiac autopsy and toxicology tests on the bodies of all people who died suddenly and unexpectedly.
4% of these deaths couldn’t be explained even after additional testing and were instead labelled as sudden arrhythmic death syndrome (SADS), a term that has since been adopted internationally. The SDS study showed that there are around 500 cases of SADS a year in England alone, eight times more than previously thought.
Heart and genetic testing of families of the people dying with SADS identified inherited cardiac disease in around half of cases, demonstrating just how important it is that families are tested and diagnosed, so that family members can be given treatments to prevent further deaths.
The researchers also found that general pathologists are happy to refer cases and indicated how important specialist cardiac pathology is for unexplained deaths. This allows families the opportunity for screening after diagnosis.
“Our research has shown that further testing in SADS cases can provide some explanation for families, as well as the potential to identify the same condition in family members and offer them pre-emptive treatment,”
says Professor Behr.
“It’s crucial that coroners and pathologists are aware of this, and we’re working hard to ensure that this is the case,” Professor Sheppard states.
The team have used their findings to develop a standard protocol for the investigation of family members in cases of SADS, and this has gone on to change health policy in both the UK and abroad. Working with the charity Cardiac Risk in the Young (CRY), the St George’s group contributed to the National Service Framework (NSF) on Coronary Heart Disease and NHS England guidance on the management of SADS families. Numerous international learned societies have also adopted the recommendations.
Around 500-600 cases of SADS are diagnosed each year in people under 35 years old. Since 2014, coroners and pathologists from across the United Kingdom have referred 1,578 cases to St George’s for expert pathology, accounting for approximately 40% of the total number of SADS cases in the UK.
“We can now produce a diagnosis and management plan to prevent further deaths in more than 40% of families investigated,” says Professor Behr.
They are also ensuring that coroners are aware how important it is to retain suitable tissue for genetic testing in SADS deaths. In 2014, most SADS cases did not have tissue retained for post-mortem genetic testing, now more than 60% of cases do.
Professors Behr and Sheppard are now leading a British Heart Foundation-sponsored pilot programme aiming to improve communication between coroners and health services, and improve provision and access to integrated genomic and clinical testing for SADS cases and families.
You can find out more about St George’s work in cardiology by visiting the webpage of the Cardiology Clinical Academic Group.