One in 1,000 people could have gene putting them at risk of rare heart condition
A gene which puts people at risk of a rare and potentially fatal heart condition could be carried by one in 1,000 people, a study has found.
Researchers say the figure is "higher than expected", and while many people won't go on to develop the disease, identifying those who do as early as possible could allow for it to be treated more effectively.
Cardiac transthyretin (ATTR) amloidosis happens when the liver produces faulty transthyretin (TTR) proteins.
They can change shape and form clumps around the heart, which makes it harder for the heart to pump blood and eventually lead to heart failure.
The study by University College London (UCL) and Queen Mary University of London analysed the genes of 469,789 people in the UK.
They found that a hereditary form of the gene is more common in people with black African ancestry and in certain populations in Portugal, Japan and Sweden, researchers said.
ATTR amyloidosis can be caused by a mutation in the TTR gene, but can also develop in people without the mutation.
The study found about one in 1,000 people had a genetic variant with a link to ATTR amyloidosis.
The result was much higher among patients with African ancestry with about one in 23, or 4.3%, having genes linked to the disease.
Those with the variant – known as Val142Ile – were more likely to have heart rhythm problems, thickening of the heart muscle and heart failure.
However, hospital data showed just 2.8% of the group had been diagnosed with cardiac amyloidosis.
Researchers said the findings – published in Jama Cardiology – “emphasise the need for clinical vigilance” to identify those at risk.
Subscribe free to our weekly newsletter for exclusive and original coverage from ITV News. Direct to your inbox every Friday morning
Dr Nay Aung, of the William Harvey Research Institute at Queen Mary University of London, added: “Our study showed that people carrying these potentially harmful variants have a two-to-three-fold increase in the risk of heart failure and cardiac rhythm issues.
“This again highlights the need for early detection and monitoring for disease progression.”
ATTR amyloidosis is estimated to effect between one in 120,000 and one in 830,000 people globally.
New treatments are being developed at the UCL Centre for Amyloidosis, including a gene-editing therapy which could stop disease progression.
Want a quick and expert briefing on the biggest news stories? Listen to our latest podcasts to find out What You Need To Know...