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Over 600,000 at risk of sudden death from faulty heart gene

06 February 2017

By Julianna Photopoulos

Appeared in BioNews 887

About 620,000 people in the UK carry a faulty heart gene that puts them at high risk of sudden death or developing coronary heart disease, the British Heart Foundation (BHF) has warned.

The figure is 100,000 times more than previous estimates and could be even higher due to under-diagnosis and as yet undiscovered faulty genes.

'The reality is that there are hundreds of thousands of people across the UK who are unaware that they could be at risk of sudden death,' said Professor Sir Nilesh Samani, BHF's medical director.

He added: 'If undetected and untreated, inherited heart conditions can be deadly, and they continue to devastate families, often by taking away loved ones without warning.'

A child of someone with certain genetic heart conditions has a 50 percent chance of inheriting it themselves. In the UK, around 12 people aged 35 or under die each week from sudden cardiac arrest with no explanation.

Last April, former England and Nottinghamshire cricketer James Taylor was forced to retire at the age of 26, because of a rare but serious genetic heart condition – arrhythmogenic right ventricular cardiomyopathy (ARVC), which is caused by a mutation in one or more genes.

'It is safe to say that being diagnosed with ARVC was the toughest and scariest week of my life,' Taylor told The Guardian. 'I never would have thought it would happen to me. I was 26 years old and playing cricket for England but my condition meant that I was at risk of sudden death from a cardiac arrest.'

'I was lucky as my condition was detected early and despite having to give up my career, with medication I can lead a relatively normal life,' he added.

Research has helped to discover many faulty genes that cause inherited heart conditions. 'Thanks to the public's kind support, our researchers have discovered some of the genes responsible for these frightening conditions but there is still much to do,' said Professor Samani.


28 November 2016 - by Dr Özge Özkaya 
Gene variants coding for the muscle protein titin cause enlarged hearts in healthy individuals, and stress may trigger carriers to develop heart disease, according to a study...
31 October 2016 - by Arit Udoh 
Screening toddlers for an inherited cholesterol disorder during routine vaccinations could reduce the risk of heart attacks, a study has suggested...
23 May 2016 - by Rachel Reeves 
A rare genetic mutation reduces the risk of having a heart attack by one-third, a study has found...
14 March 2016 - by Sophie Perry 
A rare genetic mutation that causes high levels of 'good' cholesterol also appears to block its positive effects, increasing the risk of heart disease by 80 percent...
22 February 2016 - by Dr Ashley Cartwright 
A new blood test has been developed that can accurately detect all genes known to cause inherited heart conditions, say scientists...

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Public Conference
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Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Andy Greenfield

Dr Anna Smajdor

Dr Henry Malter

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross

Sandy Starr


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