Finding the answers

In 1993 Howard English collapsed and died while playing a game of rugby. The 32 year-old was a keen sportsman, fit, apparently healthy, and married with three young children. Eleven years later the eldest of those three children, Sebastian, died in identical circumstances to his father. He was just fifteen.

Both were victims of Sudden Unexpected Cardiac Death, a condition which it is estimated kills at least eight young people each week but one which is frequently misdiagnosed and misunderstood. Now a new expert pathology unit at Royal Brompton is to shed light on tragic deaths such as these and, in so doing, prevent others from losing their lives t the condition. Finding-the-answers--2-(Mar

The unit – which launched in early March and is funded by a grant from the charity Cardiac Risk in the Young (CRY) – is led by Dr Mary Sheppard, consultant hisopathologist at RBH. Dr Sheppard specialises in investigating sudden cardiac deaths, working to understand why the hearts of young, apparently healthy people have stopped so suddenly.

“Pathology is very much the hidden science at the heart of modern medicine,” says Dr Sheppard.

“It is vital for the diagnosis and management of disease but people do not usually know we exist within the hospital system until they have a reason to come into contact with us – such as when an unexpected death has taken place.”

It is pathologists like Dr Sheppard who perform post-mortems, the medical examinations of a body which are used top understand exactly why someone has died. Uncovering these answers is especially important in instances of sudden cardiac death.

“The death comes out of the blue and that can have a devastating impact on families,” explains Dr Sheppard.

“By making the right diagnosis I know that I can help families come to some sort of closure about such a traumatic event.”

A correct diagnosis can also save lives. Many of the conditions that cause sudden cardiac death, including the one from which Howard English and son Sebastian were ultimately shown to have died, are genetic. Discovering the exact condition which caused a death allows other family members to be screened for it and appropriate treatment to be given.

Although Dr Sheppard works hard to raise awareness of sudden cardiac death among her colleagues – she regularly runs teaching sessio8ns and give lectures – expertise in the area is still not widespread. That has meant that all too often the recorded causes for death in these cases have been delayed or wrong.

“Many deaths are simply recorded as unascertained or, incorrectly, as an accident such as epilepsy, asthma or drowning,” explains Alison Cox MBE, chief executive and founder of CRY.

Dr Sheppard explains that the new unit aims to end these misinterpretations and agonising waits.

“We will offer a ‘fast-track’ service for sudden cardiac deaths around the country,” she says.

“That means that families should know exactly why a relative has died within just a few weeks rather than the months that many currently have to wait.”

While many families have Dr Sheppard to thank for explaining exactly why a loved one died so suddenly, she says she has many people to thank for making such work possible in the first place.

“CRY agreed to give me support over three years to establish the laboratory. Families who have been affected by sudden cardiac death (including the family of Howard and Sebastian English) raised the money and are the real heroes who have made this initiative possible.

“I also have to thank Royal Brompton and the National Heart and Lung Institute.”

Dr Sheppard emphasises that there is much work still to be done – “there are many and complex causes of cardiac death and some of these diseases we are only now beginning to find out about” – but says that it is crucial progress continues.

“We are all afraid of death. We all hope to die in ripe old age surrounded by a loving family. So when death strikes the young, someone with all their life ahead of them, it is an appalling tragedy for that family. And for their sake, it is so important that we understand why the death has occurred.”