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Rare heart condition warning

December 08, 2015

This is an abridged version of an article from Wales online, full article available at http://www.walesonline.co.uk/news/wales-news/your-hearts-could-stop-any-10536448

A year ago a mother and son were diagnosed with a condition that could cause their hearts to stop at any time.  Giselle Maynard, 50 and son Zachary, 13, from Radyr , were diagnosed with Brugada syndrome, a leading cause of sudden cardiac death. The inherited condition shows no symptoms and if they collapse there is just eight minutes to save them. Since diagnosis, both have measures in place to watch for any changes in their heartbeat and hope to raise awareness of the condition that affects around one in every 2,000 people. Giselle has a tiny internal defibrillator (ICD) which regulates her heartbeat and sends an electric shock if it stops beating. But Zac is too young for an ICD to be fitted so sleeps will a monitor in his bed, has a tiny monitor in his chest and carries a defibrillator with him at all times. The pair moved from Spain to Cardiff to be nearer family and medical experts and have been overwhelmed by the support they have received.

Zac, a year nine pupil has settled in to life at his new school. Before he arrived, 22 staff at the school were fully trained in giving CPR and using a defibrillator. “It’s been horrendous,” said Giselle, “I was told I could die at any time and got help just in time.” The single mum only found out her own diagnosis after she had unexplained shoulder pain in July 2014.

“I had palpitations a couple of years ago and woke up sometimes gasping for breath but after seeing three GPs and cardiologists and tests showed nothing. I was told to stop worrying and go home.”

 “Then I had shoulder pain all night and a feeling of doom. I went to the doctors and had an ECG test to check my heart rate. I saw the doctor’s face change when he was reading it. He told me ‘you have either had a heart attack or you have a blockage in your heart’.”

Admitted to hospital in Spain Giselle was told she probably had Brugada Syndrome , which was confirmed by tests in London.

Seeing one of the UK’s leading experts on the condition, consultant cardiologist Dr Amanda Varnava, she was told there was a 50% chance she had passed the inherited condition to Zac, who also tested positive.

“There is so much ignorance about this condition and so little is known about it,” said Giselle, who runs her own business translating and monitoring social media for international companies.

With more than 600 young people dying from sudden heart syndromes each year Giselle hopes sharing their experience will raise awareness.

“Often with Brugada there are no symptoms. That’s the difficulty. You can have no symptoms your whole life and then it gets you, that’s why we take all these precautions.

Dr Varnava , who is cardiologist for several premiership football teams including West Ham, Fulham and Tottenham Hotspur, praised Radyr Comprehensive’s action and said all young people who collapse or faint should be given an ECG and asked about their medical and family history to check for sudden death syndrome s like Brugada.

What is Brugada?

  • Brugada Syndrome, a cause of sudden cardiac death, is an inherited condition affecting around one in 2,000 people.
  • The condition is an electrical problem disrupting the normal rhythm of the heart.
  • It is often symptom-free but sufferers may faint or have shortness of breath.
  • There is a 50% chance sufferers will pass it to their children.
  • Brugada usually affects people in their 30s and 40s. It is more common in men than women and usually strikes while people are resting, not exercising.
  • If diagnosed patients may be offered a cardiac ICD, a small internal device that regulates the heartbeat.
  • Because Brugada is an electrical problem the heart appears normal the condition is diagnosed by injecting patients with a drug called ajmaline which shows up changes in people with Brugada

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