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A mother's pain as the heart disease that stole her son, aged 29, now threatens her daughter, 30.

Byline: By MADELEINE BRINDLEY Western Mail

A mother spoke today of how a heart disease stole her son's life and is now threatening the life of her only surviving child. Rita Buchan's eldest son Jamie died suddenly while cycling three years ago, from

cardiomyopathy, which has been dubbed sudden adult death syndrome.

Her 30-year-old daughter, Nadia, learned this week she also has a form of the disease which killed her 29-year-old brother.

The news has rocked Rita, 53, who is still coming to terms with Jamie's death and that of her other son Martin, 21, who died in a car accident in 1997.

She said, 'Jamie was super fit, he was a very energetic man and was always pushing himself.

'He started boxing when he was 14 and later ran. He bought a bike about a year-and-a-half before he died and would cycle to Swansea and over the mountains.

'He was cycling one day, coming up a steep hill. We don't know if he felt unwell, but he put the bike down and the next thing he collapsed by the side of the road and died.

'I couldn't believe it - I lost one son five years before in 1997 in a car accident. Jamie's death was completely out of the blue.

It was horrific. He was dead but there were no answers for why he died so suddenly. At least with Martin we understood that he died in a car accident. But with Jamie they couldn't find a cause of death.'

Rita, who is divorced and lives in Cwmllynfell, near Swansea, was originally told that Jamie had suffered a heart attack, but she could not reconcile that fact with her son's fitness.

A post-mortem examination revealed few clues and it wasn't until Nadia asked more questions that the family finally learned Jamie had an enlarged heart.

Rita, who will attend a special meeting about cardiomyopathy today in Swansea, said, 'We had heard of sudden adult death syndrome and we began our search for answers.

'When we contacted the Cardiomyopathy Association we were horrified to find that as many as one in 500 people may have cardiomyopathy but many do not know they have it.'

Cardiomyopathy can be hereditary prompting Rita and Nadia to undergo screening for the heart disease.

The pair were initially given the all clear, following tests arranged by their GP. But Rita's doubts about the tests, after she learned more about the condition, led the family to ask for a second opinion.

They were referred to cardiomyopathy expert Professor William McKenna, at London's Heart Hospital, where further tests were carried out.

Nadia, a staff nurse, learned earlier this week that she has arrhythmogenic right ventricular cardiomyopathy - the same form of the disease as experts believe her brother Jamie died from.

Rita, a member of the Cardiomyopathy Association, said, 'It is a relief to know, because now we know what signs and symptoms to look for and what to do.

'Before I was living in fear that something was going to happen to her - whenever she didn't answer her phone, I'd be on my way over to hers.

'I was frightened I was going to find her dead.

'People may think that I'm over- reacting, but I'm not, that's how quick it can happen.'

Nadia will now undergo regular check-ups to monitor her condition and she has been prescribed drugs to help. Although she can continue exercising, she must not put too much strain on her heart.

Rita will be among 50 people at the meeting, organised by the Cardiomyopathy Association, at the Aberavon Beach Hotel, in Swansea Bay today. Prof McKenna will be among the speakers.: The causes and diseases:Cardiomyopathy means a disease of the heart muscle and is derived from latin. Four separate and distinct conditions of cardiomyopathy have been recognised: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an electrical disturbance of the heart which tends to affect the right ventricle.

If the heart is examined, the right side of the heart may appear to be thickened early in the disease, but later it may become enlarged with a thinner wall.

The muscle becomes reduced and instead there are thin layers of fat and fibrous tissue.

For many affected people, ARVC will not limit the quality or duration of life.

However, some will experience significant symptoms and are at risk of sudden death.

Dilated Cardiomyopathy (DCM) causes the muscular walls of the heart to be stretched or dilated. This causes the heart to become larger and heart muscle weaker, making it unable to pump as well as it should.

Symptoms include tiredness and shortness of breath while exercising or resting. Sufferers may also have heart palpitations and ankles becoming swollen.

May develop following a viral or other infection of the heart or caused where the body attacks itself. Alcohol and drug misuse can cause the problem.

Hypertrophic cardiomyopathy (HCM) causes the muscular walls of the heart to become thickened which prevents the heart filling up with blood properly and blocks the blood from being pumped from the heart.

Sufferers may become short of breath, suffer chest pains and palpitations, and may often faint.

Tragically, sudden death is sometimes the first indication that HCM was present. Its exact cause is unknown, although it's usually inherited.

Restrictive cardiomyopathy is caused by stiffening of the heart muscles. It is often due to scarring of the heart muscle which occurs for no apparent reason. In the UK, the most common cause is a condition called amyloid, where abnormal proteins are deposited in parts of the body, in this case the heart muscle.
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Publication:Western Mail (Cardiff, Wales)
Date:May 21, 2005
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