A MUM whose teenage son died suddenly from a genetic heart condition has praised a leading NHS centre for its work in identifying patients at risk of developing heart disease.

Helen Fowler, from Haydon Wick, lost her 14-year-old son Isaac to Long QT Syndrome in June 2011.

The genetic condition increases the chance of a dangerous heartbeat rhythm and affects around one in every 2,000 people

It was initially thought Nova Hreod student Isaac died from a severe asthma attack but when his parents disputed this, the British Heart Foundation referred them for genetic testing at the Oxford Medical Genetics Laboratory at the Churchill Hospital.

Tissue samples were collected through a post-mortem and genetically tested. This finally gave the family the news that Isaac carried a gene change which put him at risk of developing Long QT.

The service was developed in partnership with BHF funded Professor Hugh Watkins and the Oxford inherited cardiac conditions clinical team. It is now the largest NHS based centre to identify genetic causes of heart disease and today it will welcome its 10,000th patient.

Thanks to the centre, Helen and four other members of her family have discovered they carry the gene and can now be treated with beta blockers.

“Isaac seemed healthy, happy. He was rarely ill, We never had any indication that anything was wrong,” said Helen, 48.

“He was very laidback, he loved his sport, watching tennis, football. He had lots of friends in different groups, he got on with everyone and we were very close.

“It was a nightmare, one that we couldn’t get out of because it was so sudden.

“We were worried after we lost Isaac and that it might happen to someone else in my family, we didn’t want anyone else to go through that pain.

“Myself and Isaac's father Paul had blood tests which found that I carry the gene then we did genetic counselling and worked our way up my family tree

“The centre was so helpful, explaining everything in lay man terms and making us all feel comfortable. The work they do is incredible.

“It’s a mixture of emotions because it was because of me that Isaac had this condition but I was relieved to know that my family and I could be treated.”

The laboratory service has identified thousands of patients at risk of developing an inherited heart condition, allowing support and treatment to be given

They use state-of-the-art technology to examine more than 70 genes, and look for ‘spelling mistakes’ in those that tell the body how to make heart muscle or the wiring in the heart that controls the heartbeat- all with a simple blood test

Patients are offered genetic testing, medical care and advice. The service also provides genetic counselling, and heart checks

Prof Watkins, who founded the centre, said: “We cannot find the genetic cause of a condition in every family, but when we do, it can help us to know how to care for relatives of the affected person.

“If we find a causative gene change, relatives can have genetic testing to find out whether they too carry the gene change or not.

“If they do not carry the gene change, we can be confident that they are not likely to develop the inherited heart condition running in their family.

“If they do carry the gene change, we know that we need to keep them under our care in order to spot the early signs of the condition, and act swiftly.

“There are no cures for these conditions at present, but there are effective drug treatments and lifestyle changes which can significantly reduce the chance of a life-threatening event.”

“The tests can also allow us to direct potentially life-saving treatments, like implantable defibrillators, to the most appropriate patients.”