More people in the UK are at risk of a potentially deadly hereditary heart condition than previously thought, a study has found.
Researchers analysed the genes of 469,789 people in the UK and found that one in 1,000 possessed genetic variants with a likely link to cardiac transthyretin (ATTR) amyloidosis.
The condition is caused by abnormal proteins, called amyloid, which build up in the heart tissue and make it stiff and less able to pump blood.
If left untreated, it is likely to be fatal within four to six years.
Scientists previously estimated ATTR amyloidosis to be very rare, affecting between one in 120,000 and one in 830,000 people globally.
The study, carried out by University College London (UCL) and Queen Mary University of London, found that the incidence was much higher among participants with African ancestry, with one in 23 (4.3 per cent) possessing genes thought to be linked to the disease.
Senior author Dr Luis Lopes, from the UCL Institute of Cardiovascular Science, said: “We found a higher than expected number of people in the UK with potentially harmful genetic variants linked to cardiac ATTR amyloidosis, an often fatal condition.
“Many people with these variants will not go on to develop disease. However, it is important to try to identify those who do as early as we can, as there are promising new medicines that can effectively treat the condition, and acting earlier with these medicines is likely to help patients more.”
ATTR amyloidosis can be hereditary, caused by a mutation in the transthyretin (TTR) gene, but it can also occur as people age without a genetic basis.
The hereditary form is known to be much more common in certain geographic clusters of populations in Portugal, Japan and Sweden, and among individuals with Black African ancestry.
