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:
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
"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
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
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
"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
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
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
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
"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
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.