James Coleman - a patient's story (British Heart Foundation: 50 years at the Heart of Health)

Since the age of nine, when his uncle was taken ill, James Coleman has known that he and his family may be at risk from hypertrophic cardiomyopathy (HCM). This is a dangerous thickening of the heart muscle that can make it harder for your heart to pump blood around the body. In some cases it can lead to sudden arrhythmic death.

The problem was that none of James' family knew whether they had HCM for sure. And they didn't know whether they had the genetic mutation - discovered by BHF researchers - that could see it passed down to the next generation.

That all changed in 2009 when James, by that time in his 20s, was told about a new genetic test developed by our researchers: 'I went to the John Radcliffe for my routine ultrasound and they explained that if I had the condition there would be a spelling mistake in the gene - and that was what the test was searching for.

'I came up with the spelling mistake but I was quite glad because it meant there was a reason for everything that I'd had to do. I used to have to go to school with wires all over my chest, I'd had 24 hour monitoring of my heartbeat, I'd had to give up football - that was the worst feeling. But the test result meant it had been worth it.'

James's 19-year-old sister was also tested, 'but she was cleared. She has been monitored lots of times since she was young but genetic testing has written that off for her now. She didn't enjoy going to hospital, so she's pleased.'

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• hypertrophic cardiomyopathy
• sudden arrhythmic death
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