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Deaths in the UK in 'FIT' athletes by Relative HYPOglycemia Distress or Absolute HYPOglycemia Distress?
Phil O'Donnell (35) Footballer, captain of Motherwell, died during a match against Dundee Utd in the Scottish Premier League
Anton Reid (16) Trainee footballer at Walsall, died whilst training
Matt Gadsby (27) Footballer with Hinckley United, collapsed and died on the pitch whilst playing against Harrogate Town
John Ibbotson (27) Professional cyclist and cycling coach
Parvez Mirza (24) Cricketer, just signed for Worcestershire, died in his sleep
Laura Moss (13) Junior Swimmer on the elite Olympic Swim 2000 squad, died warming up at a school swimming gala
Jason Erics (17) Footballer, junior trainee at Spurs, died after sledging in the snow with friends
John Marshall (16) Junior International Footballer at the National Football School of Excellence, Lilleshall, died suddenly the day he was due to join Everton
Daniel Yorath (15) Footballer, just signed for Leeds, died playing football in the garden with his Dad
Michael Richards (24) Champion Heavyweight Boxer, died after a training run
David Longhurst (25) Footballer for York City, died during a televised match
Andy Hornby (23) International Bodybuilder, died during a Mr. England contest
Owen Povey (18) Tennis player, died after a coaching session
Adrian Hawkins (22) Cyclist, just shortlisted for the Barcelona Olympics cycling squad, died two weeks later, immediately after winning a major race
Ian Bell (16) Footballer, just signed for Hartlepool, died during a game
Robert Hayley (17) Rower, died watching television, shortly after (as a junior) winning a senior rowing competition with Steven Redgrave.
http://www.c-r-y.org.uk/long_qt_syndrome.htm
The Ion Channelopathies are rare disorders that affect the sodium, potassium and calcium channels, which are present in the heart muscles and are responsible for regulation of inflow and outflow of the electrical current in the cells. The channels are coded on particular genes in the chromosomes. Any mutations in these genes produce abnormal channels, which might cause abnormal heart rhythms that can cause sudden death. Since these channels are microscopic and are not visible to the naked eye, the heart appears normal during post-mortem examination. The following are the common disorders that affect ion-channels
| | Long QT Syndrome | |
| | Brugada Syndrome | |
| | Progressive Cardiac Conduction Defect (Lev-Lenegre's Syndrome) | |
| | Idiopathic Ventricular Fibrillation (without Brugada ECG changes) | |
| | Catecholaminergic Polymorphic VT | |
The proteins involved in the Long QT Syndrome consist of two of the potassium "channels" which regulate the behaviour of potassium ions moving from the inside to the outside of the cell. In addition, a sodium "channel" is also affected and this regulates the behaviour of sodium ions that move from the outside to the inside of cells. The same sodium channel protein has also been found to have mutations in Brugada Syndrome, Lev-Lenegre’s Syndrome and Idiopathic Ventricular Fibrillation without Brugada ECG changes.
Catecholaminergic Polymorphic VT has been associated very recently with another protein (hRyR2) that is found inside the cell and regulates the release of calcium ions into the rest of the cell.
Long QT Syndrome
In this condition the potassium channels do not behave as efficiently as normal or the sodium channel over-activates. This results in an electrical disturbance in the cell called prolonged repolarisation. This can be reflected on the ECG as lengthening of the time period known as the "QT interval", hence the name, Long QT Syndrome. This is also known as the Romano Ward Syndrome (the commonest form) and Jervell Lange-Neilsen Syndrome (a rare form associated with deafness).
With the advent of molecular genetics, Congenital Long QT Syndrome has been classified into 7 groups (Long QT1-Long QT7). Long QT 1-3 comprises 95% of all cases of congenital Long QT Syndrome. Long QT 1 and 2 are due to mutations in potassium channels, whereas Long QT 3 is as a result of mutation in sodium channels.
Symptoms
Blackouts are the most common problem, although palpitations, dizzy spells and chest pain can also be reported. More often, patients may not report any symptoms at all, and sudden death could be their first presentation. There is however, a wide spectrum of severity and these vary according to the type of gene involved, sex, age and length of the QT interval.
Most commonly, sudden death in Long QT 1 is seen after physical exertion (athletes are at risk), whereas in Long QT 2 sudden death or syncope is usually seen during emotional stress, which may be brought on by loud noises, the crying of a baby in the middle of the night, ringing of a phone or alarm clock etc. In Long QT 3, sudden death has been increasingly seen during sleep.
Signs
There are no physical signs of the condition.
Diagnosis
This involves observation of the ECG for the lengthening of the QT interval and abnormality of other parts of the ECG that represent repolarisation. These are the T Waves. Unfortunately, the wide spectrum of the condition means that many individuals might be carriers but not exhibit any ECG changes. It may require repeated ECGs, exercise tests and 24-48 hour tape monitoring to see any hint of the condition. There does not appear to be much role for more aggressive tests such as electro-physiological studies. Future diagnosis might be improved however, by genetic testing. Unfortunately, this is limited, because only 50% of known Long QT patients have mutations of the previously mentioned genes. Also, negative genetic testing does not rule out the condition, as only 70% of those affected show positive results. There is an additional problem in that families with identified mutations appear to have a specific change to the DNA code, which is not found in other families (known as a "private" mutation).
This is further complicated because each individual carrier of the same mutation may be affected with differing severity, even if they are from the same family. This makes decisions on management of the condition very difficult.
Management
If it is decided that the risk to an individual is great enough that treatment is required, then drugs are invariably used. The commonest drug is a beta-blocker. This blocks the affects of adrenaline and associated natural chemicals in the body that have an action on the heart. This does appear to be successful in reducing the risk of sudden death. There are other more recent trends in drug treatment that have yet to be clarified that appear promising. These involve using specific classes of drugs that block disturbances in the heart rhythm that cause sudden death (known as antiarrhythmics).
If the risk is felt to be great enough, special devices may be used in addition to medication. Pacemakers that control the heart rate have been used successfully, as have cardiac defibrillators (ICDs). The ICDs are given to patients who are believed to be at high risk of sudden death (which is decided through various testing as mentioned above; considering family history; and symptoms). These are similar to Pacemakers, except they are also able to shock the heart when a rhythm disturbance occurs that might be life threatening. In addition to these measures, we do advise patients with Long QT Syndrome to avoid excessive exercise or strenuous athletic activities.
Brugada Syndrome
This condition was first identified and then further clarified from the late 1980’s onwards. It is a rare condition in the western world that appears to be considerably more common amongst young men in South East Asia. It is also known as "Sudden Unexpected Death Syndrome" (SUDS). It has very recently been associated with mutations in the sodium channel, but this appears to only account for 20% of sufferers. The sodium channel behaves abnormally in that movement of sodium ions into the cells is restricted. This results in changes on the ECG, but no abnormalities in the structure of the heart. These changes have been described as follows "right bundle branch block with J point elevation and concave ST elevation".
Symptoms
Blackouts, palpitations and sudden death.
Signs
There are no physical signs associated.
Diagnosis
This is again, on the basis of the ECG appearance, which may be present or absent. If it is absent then there are tests that can bring it out. These are known as provocation tests that use short injections of drugs that are "anti-arrhythmic", i.e. attempt to control the heart's rhythm. There is some controversy now as to how reassuring a negative result is. The role for electro-physiological testing is still to be determined.
Because of the small proportion of sufferers have been identified with these mutations, genetic testing is limited in its application.
Management
The condition can carry a poor prognosis, particularly in those who are symptomatic, i.e. at least a 10% death rate per year. It is therefore standard practice at present to use an ICD to protect most patients. Drug therapy has not appeared to be successful but there may be a role for electro-physiological studies to differentiate those people who do or do not require an ICD.
This is another very rare condition where the heart's conduction of electrical impulses is affected. This results in the gradual development over time of heart block that may result in death due to the cessation of the heart rhythm - i.e. asystole, or escape rapid rhythm disturbances (ventricular arrhythmias). Only certain cases have had sodium channel mutations associated with them, so again genetic testing is of limited use.
Symptoms
Blackouts and dizziness are the usual symptoms and the findings may be detected on ECG or 24-48 hour Holter monitoring. Electro-physiological study may also assist in diagnosis.
Management
The successful treatment appears to be permanent pacemakers, which stop the heart slowing excessively, although this may not prevent the ventricular arrhythmias. Therefore, additional medical treatment with tablets may be appropriate or even an ICD.
Idiopathic Ventricular Fibrillation
There has been one report about patients with this condition - which is similar to Brugada, but without the associated ECG changes - who also had sodium channel mutations. The treatment again revolves around the use of ICDs.
Catecholaminergic Polymorphic VT
In early 2001, two research groups reported mutations in the hRyR2 protein mentioned above. This is a rare condition found in young people who can black out or die suddenly when exerting themselves.
The diagnosis only appears to be easily made when these rhythm disturbances have been recorded and recognised. The sufferers respond dramatically to beta-blockers and a restriction of exercise, and have a much better outlook following treatment.
Mum wins battle for fresh inquest into nurse's death
Daily Post - 15th February 2006
By Sara Thomas
Nurse Lisa Browne suffered Long QT Syndrome - but it was only discovered after an inquest, which recorded an open verdict.
Experts said then they could not find a reason why she died in January 1998 - but tests by Swedish geneticists later showed she had the genetic electrical abnormality in her heart.
Lisa's sister Rachel was also diagnosed with the defect after she had tests and had surgery to fit a pacemaker, called an ICD. Three years ago she was asleep when son Adam woke up screaming and the sudden noise caused Rachel's heart to stop. The ICD kick started her heart.
And Adam was also diagnosed with the disorder while other family members carry the gene.
Lisa's parents, Terrence and Doreen Harley, of Halkyn View, Connah's Quay, Deeside, say it is in the public interest for a fresh inquest to be called.
Doreen, a regional representative for the charity Cardiac risk in the Young (CRY), set up screening sessions in Flintshire for young people. Out of 79 tested, seven were found to have cardiac problems they were not aware of.
Mrs Harley previously said: "Neither of us could ever accept that she died for no reason.
"Finally, to put everything in place we need a death certificate showing the new cause of death. It is definitely the case that she had Long QT Syndrome and she died when her alarm clock went off."
Yesterday at London's High Court Mrs Justice Hallett and Mr Justice Nelson ordered coroner Nicholas Rheinberg to hold a new inquest into the death of Lisa, a paediatric nurse at the Countess of Chester Hospital.
In written submissions to the judges, barrister Keith Morton said 27-year-old Mrs Browne was prescribed a drug to counter depression when her Long QT Syndrome was misdiagnosed, and it could have exacerbated her condition.
He added that it was previously believed that Long QT Syndrome could not be diagnosed following death, but as a result of Mrs Browne's case, that is no longer true.
The barrister argued both points raised matters of 'public importance.'
Mr Morton said relatives of other Long QT Syndrome victims could benefit from "post mortem diagnosis" as they too could have the disease.
And he added that, if doctors knew the dangers of prescribing drugs that could have a detrimental effect on Long QT Syndrome sufferers, lives could be saved.
No date was set for the new inquest which will take place in front of Chester coroner Mr Rheinberg.
The court heard Mrs Browne suffered stomach cramps, throat infections, bowel pains and other complaints but Long QT Syndrome was never diagnosed while she was alive.
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