Sudden death unexpected and unexplained

Colin Meek looks beyond the dramatic headlines to investigate what's known about sudden unexpected and unexplained deaths

In June this year 28-year-old Manchester City and Cameroon footballer Marc-Vivien Foé collapsed during an international match in Lyon.  Medical teams struggled to resuscitate him but he died later in hospital.  His death stunned the football world and the millions of people watching the match. 

Mr Foé; was at the peak of his career and outwardly fit and healthy.  A first autopsy failed to confirm a cause of death.  But two weeks later, a second autopsy found that he had a heart condition known as hypertrophic cardiomyopathy (HCM), an incurable condition that causes excessive thickening of the heart muscle.

Marc-Vivien Foé’s death was so shocking because he collapsed in from of the television cameras.  But recent research shows that there maybe tens of thousands of people in the UK who have HCM.

Coronary heart disease is the leading cause of death in the UK.  It can kill suddenly and without warning.  But there are more than a dozen other rarer cardiac diseases that can affect the fittest and healthiest people.  While many people can carry these conditions and live normal lives, they can cause sudden death.

And while coronary heart disease usually strikes people over 34, these conditions tend to affect younger people.  HCM is one of them.  In this report we examine the impact of these diseases, their signs and symptoms and how scientists, doctors and relatives of those affected now think that deaths from some of these conditions are more common than once thought.

Coping with Sudden Death

Anyone would find it difficult to cope with the death of someone young in the family.  But Alison Cox, chief executive of the charity Cardiac Risk in the Young (CRY) says that sudden unexpected deaths in apparently healthy individuals are the worst of all.  ‘These deaths are the cutting edge of grief,’ she says.  ‘It is incomprehensible to people when someone who is fit and healthy and relatively young can die when they’ve not shown any detectable symptoms.’

The cardiac diseases that can cause sudden unexpected death fall into two broad categories.  The first are those that go undiagnosed in life but cause sudden and unexpected death. These diseases are revealed when post mortems are carried out.

The second category includes all other sudden unexpected and unexplained deaths.  It’s thought that most of these are caused by irregular heart rhythms.  They are unexplained because no cause of death can be established during a post mortem. 

In Marc-Vivien Foé’s case, an autopsy did identify the cause of death.  Dr Sanjay Sharma, consultant cardiologist at University Hospital, Lewisham in London and CRY’s cardiologist, explains that’ a definite diagnosis does help other family members to come to terms with loss.

Most of the cardiac conditions that cause sudden death in young people are inherited.  Family members who test positive for HCM can be given advice and possibly life-saving treatment.  HCM can be managed if it is diagnosed.

The deaths that fall into the ‘unexplained’ category are not so straightforward.  ‘Families can become dysfunctional,’ says Alison Cox.  ‘The fact someone fit and healthy dies, the fact that the cause maybe genetic – but the exact cause isn’t know.  This means the parents may start blaming themselves.’

Bereaved families aren’t advised directly by CRY that they should be tested for cardiac problems, but Alison Cox says that most families release that this is a sensible option even thought the screening itself (though painless) can be traumatic.  Dr Sharma says screening is used as a form of ‘crude genetics’ to help identify a cause of death.  But the results are often inconclusive.

If screening does find an unusual cardiac problem in a family member, the family and doctor have to decide what to do.  Depending on the problem found, doctors may use drug treatments to stop the heart from developing a dangerous rhythm.  Other treatments, like implantable cardioverter defibrillators (ICDs) can automatically ‘shock’ the heart out of dangerous rhythms if they do develop.  These look like pacemakers and are implanted into the chest under the skin.

But the decision to treat isn’t always clear.  ‘The screening might find an abnormality in a sibling – but we may not know if that sister or brother is really at risk,’ says Dr Sharma.  ‘Sometimes we end up keeping a careful watch for symptoms.’

Also, family screening may not find anything.  In these cases, the cause of death remains unknown and the families are left without clear answers.  Dr Sharma says: ‘All we can say is that we’ve checked the family for all the known causes of sudden death – but there are probably conditions that we don’t know about.’

How common are unexplained deaths?

Earlier this year British Heart Foundation {BHF) research on unexplained sudden death was published in the Quarterly Journal of Medicine (QJM).  It revealed that the number of death that can’t be explained is probably much higher than official statistics suggest.

Currently, there’s no nationally agreed term for a death that can’t be explained by a full post mortem.  The BHF says this is hampering research and causing unnecessary distress to families.  It points out that after ‘cot death’ was officially labelled as ‘sudden infant death syndrome’ (SIDS) doctors were able to collect data, identify causes and take steps to prevent it.  Since then, SIDS deaths have fallen by 70% in 10 years.

For the research published in the QJM, dozens of coroners’ offices in England monitored sudden deaths in adults aged 16 to 65.  Predictably, the majority of sudden deaths were caused by coronary disease.  Other deaths were caused by conditions such as HCM.  But in more than 4% of cases, the coroner couldn’t establish the cause of death.  The researchers also think this is an underestimate.

Lead author of the paper, Tim Bowker, BHF associate medical director and consultant cardiologist, told Health Which? he wants to see a new internationally agreed term for unexplained deaths and suggests ‘sudden death syndrome.’  He said:  ‘This would give doctors their first really accurate count.’

Science is catching up

Medicine is only just recognising the true number of sudden deaths caused by conditions like HCM and those probably to blame for the unexplained deaths.  Hard figures are therefore difficult to pin down, but for years it was assumed these deaths were extremely rare.

A decade ago CRY experts estimated that around one fit and healthy young person died suddenly from undiagnosed heart conditions each week.  Now CRY’s experts believe that the true figure maybe between four and eight deaths a week in the UK – and some experts say the numbers maybe even higher.

Add to this the impact that these conditions are having on families and the size of the problem becomes clear.  In response, CRY argues that more people should be tested for cardiac problems.

Because serious sports people put most stress on their hearts, CRY has already established the Centre for Sports Cardiology at the British Olympic Centre.  But Alison Cox wants to see the NHS launch a national screening programme for all school children in their mid-teens.

The organisation’s call has been supported by two Labour MEPs, who in October, launched a campaign to have the World Health Organisation officially recognised and name the syndrome.

Can screening help?

CRY argues that screening is simple, using an ECG – a painless test that records the heart’s electrical activity.  It can flag up many types of problems, and further tests can be done to try and pin-point exact conditions.

The first step towards CRY’s goal of a national screening programme was taken last year, with a pilot run by the Western Isles Health Board, in the Outer Hebrides.  The impetus for the programme came from the friends and family of local teacher, Joanne Fotheringham, who died without warning in her early twenties.  The post mortem couldn’t identify a cause of death.

Those involved in running the project say the early results suggest that more widespread screening maybe valuable.  Joanne Fotheringham’s mother, Alex, puts the success of the pilot down to the forward thinking of the Health Board and the sense of community in the area.  ‘When Joanne died it really brought this issue home to people in Ullapool and on Lewis.’ She told us.

More than 700 teenagers were invited to take part and 288 were given an ECG.  Of those, 22 were recalled for further testing and four were found to have significant problems.

Dr Sharma told us that the screening did its job in identifying those at risk.  ‘This pilot screening showed again that ECGs are a sensitive marker of underlying cardiac disease in young people.’  But he adds that dozens of similar projects are needed before the NHS National Screening Committee (NSC) – the body that assesses any proposals for new screening programmes in the UK – would even consider the evidence.

Alison Cox and Dr Sharma point to the national screening programme already established in Italy.  Since 1971 sports people have had to be screened annually to take part in competitive sport.  Recent research shows that while HCM is found to be the cause of sudden unexpected death in around 30% of young athletes in the US and non-athletes in Italy, only one young athlete in Italy out of more than 30,000 screened over 20 years has died of HGM.

The downside to screening

Despite this evidence, the NSC will take a lot of persuasion.  In 1999 it commissioned Stuart Logan, Professor of Paediatric Epidemiology, and director of the Institute of Health and Social Care Research at Peninsula Medical School in Exeter, to investigate population screening for HCM.  His investigation concluded that screening couldn’t be justified on the current evidence.

Professor Logan told us that he is updating this investigation.  He said: ‘So far it shows that it’s still unclear whether mass screening would do more good than harm.’  He added hat current testing methods made it likely that some people will be told they have a life threatening problem when they don’t.  Those who are labelled as having problems may therefore live in fear and change their lifestyles unnecessarily and be penalised with insurance costs when they are at no increased risk of early death.  Professor Logan pointed out that even if the right people are identified there isn’t any form evidence that early treatment will help prevent sudden death.

Even when real problems are spotted, Professor Logan stresses, the chances are that many of those people would go on to live a normal life anyway.   ‘We’ve no idea that telling someone not to take part in sport will do any good at all,’ he told us.  He also claims that the Italian research has flaws.  In particular, he says, only three of the 16 non athletes who died in the study were exercising around the time of death.  He says the study provides little support for the case for screening athletes for HCM.

The BHF’s Dr Bowker adds that the genera public may wrongly interpret a general screening programme for people involved in sport as a signal that exercise is harmful.  In fact, he say, exercise is vital in the prevention of coronary heart disease.

Professor Logan says more effort should be made to check young people who have cardiac symptoms such as blackouts and palpitations.  He says that syncope (fainting) is too often ignored or put down to epilepsy or asthma.  ‘Given current evidence, this would probably make more sense than screening,’ he said.