Around 600,000 in the UK living with faulty gene that could lead to heart failure

21 November 2016        

Category: Research

MRI scanner

Around 1 per cent of the population carry a faulty gene which could trigger a dangerous heart condition in seemingly healthy people, if the heart is placed under abnormal stress, such as through pregnancy or alcoholism, according to research we helped to fund. 

Researchers at Imperial College London and the MRC Clinical Sciences Centre (MRC-CSC) believe the findings, published in the journal Nature Genetics, suggest that around 75 million people worldwide could be at risk of developing heart failure if their hearts are placed under abnormal stress. It may be that the stress caused by pregnancy, a viral infection of the heart, alcoholism or high blood pressure could trigger the heart problems.

Dilated cardiomyopathy

The international collaboration, which included BHF-funded Professor Stuart Cook, involved looking at rats with a faulty version of a gene called titin. They found that although the rats appeared healthy, placing abnormal stress on the heart triggered a rare heart muscle condition called dilated cardiomyopathy (DCM), which causes heart failure.

Find out about Professor Cook and his colleagues' earlier breakthrough.

DCM is a disease of the heart muscle where it becomes stretched and thin, and is unable to pump blood around the body efficiently. It is the most common cause of heart transplant.

Looking at 'healthy hearts'

The researchers also looked at the genes of 1,400 healthy adult volunteers and created detailed 3D computer models using scans of their hearts at the MRC-CSC in London. As expected, 14 people (1 per cent) had the titin gene mutation.

From looking at the 3D heart models, the scientists found that healthy people with the titin mutations had a slightly enlarged heart, compared with those without the mutations. This supports the findings in mice which suggest titin mutations, even in the absence of DCM, are having an impact on the heart but that this starts in a very subtle way.

Next steps

Research is now underway to find out which genetic factors or environmental triggers may put people with titin mutations at risk of heart failure.

Our Medical Director, Professor Sir Nilesh Samani, said:

“Most people with titin mutations live a long and healthy life, but some will develop DCM, a heart condition which can lead for heart failure. This excellent research shows us that there is much more to this condition than we originally thought. We can now use this knowledge to identify preventable or avoidable factors that trigger DCM in those who carry titin mutations and also develop new treatments for DCM which target the genetic basis of the disease."

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