Striking at the heart of the young

Something quite extraordinary occurred last week in the powder-blue 18th-century chamber that houses the Coroner’s Court in Stamford, Lincolnshire; an eminent doctor offered a grieving family an unconditional apology. David Chadwick, formerly a professor of neurology at the University of Liverpool and the now the president of the Association of British Neurologists, admitted that his department had failed architecture graduate Nina Jelen, who died, aged 23, of a rare heart arrhythmia called Long QT Syndrome (LQTS).

A year and a half before her death Nina had been taken to accident and emergency at the Walton Centre in Liverpool, after suffering an unexplained seizure in her sleep. She was kept in overnight, given a series of tests and later followed up by Professor Chadwick, who was unable to explain the episode of unconsciousness. The results of an electrocardiogram (ECG), carried out at the same time as the electroencephalogram that measured electrical signals from her brain, could have saved her life – the printout was there for all to see. But it was mis-read and Nina’s fatal condition overlooked – one of a series of errors that contributed to her death.

“I am offering an apology for the fact that our services did not recognised an abnormality on the ECG which, if it had been recognised, would not have resulted in this tragic situation,” Professor Chadwick told Ivan and Paddy Jelen at the inquest. When Gordon Royal, the Stamford Coroner, asked:

“If that (abnormality) had been detected, would you have referred Miss Jelen to a cardiologist?” Professor Chadwick replied: “Yes.”

Had that happened, Nina would almost certainly have ended up having a defibrillator implanted, which would have automatically restarted her heart when it stopped. She would then have enjoyed a normal lifespan the inquest was told.

Nina was a bright, beautiful and apparently healthy young woman with a promising career before her when her mother found her dead in her bed on July 23, 2005. She had graduated two weeks earlier from Liverpool University, had been accepted as an intern at a Los Angeles architectural practice and was working in a pub during the long summer break.

“She had a boyfriend, she was happy and everything was looking good,” recalls Paddy, 58, a nurse and health visitor married to Ivan, a gynaecological oncologist.

“She had been out very late the night before but when I came back from work at lunch-time, I was surprised that she was not up. I went storming upstairs to turf her out of bed and found her. We called the ambulance and we tried to resuscitate her, but we knew immediately that she was dead.”

The post-mortem examination revealed no abnormalities – in arrhythmia the heart appears normal – and the pathologist felt that epilepsy was the likely cause. It was a cardiologist friend who raised the possibility of heart disease.

“He came to the funeral with medical papers and told us that we had better get the boys checked as these things can be genetic,” says Paddy, who has three sons, 27, 18 and 15.

“I wanted the boys tested that minute: within six weeks they were wired up to 24-hour monitors.”

The family’s ECG readings, all normal, shed no light on the cause of Nina’s death. But the cardiologist investigating her elder brother Benjamin, a musician living in New York, asked whether his sister had ever had an ECG. Within 15 minutes of receiving a fax of her ECG printout from Liverpool, the doctor telephoned Benjamin to say that Nina had LQTS.

The condition, which affects between one in 2,000 and one in 5,000 people, is the commonest of the ion channelopathies, diseases that affect the electrical functioning of the heart. In LQTS, the QT interval – the time that the heart takes to recharge electrically after each heartbeat – is prolonged, sometimes with fatal results. When a person dies in this way, it is know as sudden arrhythmic death syndrome.

It is estimated that ion channelopathies and other genetic conditions that can affect the heart kill at least eight apparently healthy young people a week.

“This could be a conservative estimate,” says Alison Cox, the chief executive of Cardiac Risk in the Young (CRY), a charity that provides support and information.

“When the cause of death cannot be detected during a post-mortem examination, the inquest verdict can be incorrectly recorded as something else, such as accidental death, asthma, epilepsy or drowning.

“The sudden death of an apparently fit child or young adult is so totally out of the normal order of life that it has devastating consequences for the family. It is truly appalling when a family has to cope with the knowledge that the young death could have been prevented.”

Last week, CRY announced that it is making £300,000 available to coroners so that they can refer cases to an expert cardiac pathologist when a young person dies suddenly and the cause is unknown. It is hoped that this will speed up the inquest process and make parents aware of the genetic implications of what has happened to their child. Some families have lost more than one young person because the full significance of ion channelopathies has only recently been understood. In some cases there are no early symptoms and sudden death is the first indication that anything is wrong. But 20 per cent of people who die from arrhythmias have fainted or had a blackout within the previous year and 25 per cent had another sudden death in the family.

“There can be warning signs but they tend to be ignored,” says William McKenna, Professor of Cardiac Medicine at the Centre for Cardiology at The Heart Hospital in London.

“This case is sadly typical. The level of awareness is not there. Unexplained fainting should be considered serious unless proven otherwise, but GPs roll their eyes when I say this to them. They assume that when a fit young person faints, it’s because they have had a late night and too many beers.”

If a blackout is taken seriously, the default diagnosis tends to be epilepsy, says Dr Adam Fitzpatrick, a consultant cardiologist and electrophysiologist at the Manchester Heart Centre.

“Even experienced clinicians may not be aware that in a faint there can be jerking movements of the arms and legs, which are features normally associated with epilepsy. As a result, the patient goes down the wrong care pathway and, with every step, that is reinforced. About 70 per cent of patients with a first ‘seizure’ are having a blackout and not an epileptic attack, but they never get an ECG because neurologists don’t do them.”

This can have disastrous consequences. According to Dr Fitzpatrick, epilepsy is mis-diagnosed in 30 per cent of adults and 40 per cent of children and sufferers may be started on drugs with serious side-effects, while potentially catastrophic arrhythmias are missed.

One young woman who was told she had epilepsy saw seven doctors over a three-year period before dying of an arrhythmia. Another, who suffered two serious blackouts, was not given an ECG and has been left brain-damaged and needing 24-hour care after a major cardiac arrest.

Although epilepsy was not diagnosed in Nina Jelen’s case and she did have an ECG, none of the four doctors who were aware of her first seizure spotted the abnormality. Research involving 900 doctors in 12 countries showed that fewer than one in four cardiologists and non-cardiologists could correctly interpret samples of QT intervals as being either normal or long, compared with two out of three arrhythmia specialists and 96 per cent of LQTS experts.

In Nina’s case the problems was compounded by the fact that a reading at the top of her ECG printout incorrectly stated that the QT interval was normal, a rare software error that may have resulted from the complexity of her reading.

“We have fallen through every possible loophole,” her mother says.

“The message is that there needs to be more contact between neurologists and cardiologist,” says Dr Andrew Grace, a consultant cardiologist at Papwoth Hospital, Cambridge, who has advised the Jelen family and given evidence at the inquest.

“We need more awareness, education and joined-up thinking.”

A chapter on arrhythmias and sudden cardiac death – added to the National Service Framework for Coronary Heart Disease after a campaign by Cry and other charities – states that “it is particularly important that children and young people suffering from blackouts are expertly assessed.” But, in the two years since the chapter was published, there is little evidence that this has happened. However, this month the world’s first rapid access Blackout Clinic, run by cardiology and neurology nurses, will open at Manchester Royal Infirmary. A handful of similar clinics are in the pipeline.

It is hoped that GPs, accident and emergency staff and other specialists will refer anybody with a blackout to the clinic, where a detailed history and an ECG will be taken.

“We will not make any assumptions about the cause before we investigate, promises Dr Fitzpatrick, one of the founders of the clinic.

“Our emphasis will not be on treatment but on diagnosis. We will try to get people to the right specialist first off, while keeping the door open for referral to other specialists.”

Around a third of us will faint at some time; most of these are benign but Dr Fitzpatrick believes that if young people with unexplained blackouts were dealt with in specialist clinics, many deaths from arrhythmias could be prevented.

A Blackouts Checklist to help doctors and parents assess the cause of a faint could also help to save lives.

“Every patient presenting an unexplained blackout should be given a 12-lead ECG,” advises the leaflet, produced by the charity Starrs, The Blackout Trust.

“If there is uncertainty about diagnosis, the ECG should be reviewed by a heart rhythm specialist.”

Three months after Nina Jelen’s visit to the Walton Centre in Liverpool, the hospital started routinely to measure QT interval in patient presenting with blackouts. One patient with a potentially fatal arrhythmias has already been identified.

“Of course I am pleased, but it is a bitter pill to swallow,” admits Paddy.

She is channelling her anger at what happened to her daughter into campaigning for more awareness of the disease of the disease that killed her.

“Long QT Syndrome is not common but when it happens, it is catastrophic. I will chip away at this until everybody is aware of the dangers. I really felt I was passing on the baton to Nina as my only daughter and know that will never happen. The loss is huge but you have to learn to live with it. That feeling will never go away: it just becomes a part of who you are.

Warning signs and treatments for Long QT Syndrome

Long QT Syndrome is one of a handful of rare conditions caused by genetic mutations that affect the heart’s electrical system. Diagnosis is by ECG.

In a family where one member has LQTS or has died of an unexplained cause, the other members should be given an ECG and receive genetic testing. In about 60 per cent of cases the “spelling mistake” on the gene can be found and then carriers of the mutation who do not have the condition can also be identified.

Not everybody with LQTS has the life-threatening form. Warning signs can include blackouts associated with exercise, during sleep or following a sudden shock such as an alarm clock going off. Young adult women are most at risk. Treatment is with drugs, a pacemaker of an implantable defibrillators.

Some people have not symptoms of the condition. One way to detect it in this group would be to screen all secondary school pupils. CRY is campaigning for this and offers screening to secondary schools. It is hoping to present evidence that will convince the Government to introduce national screening.

However, some experts believe that this could do more harm than good as ECG screening can produce false positives and lead to people receiving a diagnosis of a serious condition that they do not actually have.