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City mum delighted at news of consultation with
specialist
An Exeter mother has won
a crucial battle in her fight to discover if her two young sons have
inherited the heart condition thought to have killed her husband.
Donna Pyle’s husband
Andy died of Sudden Adult Death Syndrome in March 2000 at the age of 32.
Mrs Pyle’s, 30,of
Shakespeare Road, Wonford, has been trying to get her husband’s heart
tissue tested to establish whether he had a hereditary strain of the heart
condition called long QT syndrome, which can cause the heart to stop
suddenly. As revealed in the Echo, she wants her sons Jake, nine and
Jamie five, to undergo genetic tests to see if they have the condition.
Now a national charity
has arranged for her to meet top heart specialists in London for an
initial consultation on Thursday.
Her two sons will undergo
a three-hour session of initial tests, including X-rays and
electro-cardiographs to check the rhythm of hearts. Mrs Pyle and her
sons will meet with members of cardiac specialist Professor William
McKenna’s, team at the Heart Hospital in London. They will also
discuss if her sons need further tests and whether her husband’s heart
tissue can be genetically analysed.
Long QT syndrome causes
an electrical disturbance in heart cells disrupting the normal rhythm. The
symptoms include blackouts and palpitations, but the severity can vary
greatly. Treatments to control the condition include fitting a pace maker
or using drugs to regulate the heart rate.
Mrs Pyle has been trying
to get genetic tests carried out through the Royal Devon & Exeter
Hospital. But specialists here have previously said there is no reason at
the moment for the test to be done.
The national charity
Cardiac Risk in the Young has arranged the appointment in London with help
from Donna’s GP.
If Professor McKenna’s
team decides genetic testing is possible, then experts will use Mr
Pyle’s heart tissue, which is currently stored at the Royal Brompton
Hospital in London.
Analysis of genes that
can cause sudden adult death is currently carried out at a laboratory in
Amsterdam, although it will soon be offered at a new Government funded
unit in Oxford.
The couple had been
married for almost five years when Mr Pyle died of Sudden Adult Death
Syndrome, a term used for the many causes of sudden unexplained cardiac
arrest.
Mrs Pyle who also has a daughter Gemma, 13, said, “We have been
waiting to find out whether an appointment would be possible and I’m
excited that it is going ahead. The boys are going to have ECGs, X-rays,
heart monitoring and a general discussion about what can be done.”
Specialists
at the RD &E have ruled out genetic testing at the
moment because there is no firm evidence that Mr Pyle had the type
of heart condition passed through families. But they have offered to carry
out yearly checks on the boy’s hearts.
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