A UCL-led research team has identified a new gene as a cause of hypertrophic cardiomyopathy, an inherited heart condition affecting one in 500 people.
The discovery, published in the European Heart Journal, provides a new causal explanation for 1-2% of adults with the condition. (In the UK, this is approx. 1,250-2,500 people.)
As a result of the study, the new causal variants, known as truncating ALPK3 (alpha-protein kinase) variants, should be added to genetic testing/screening, allowing doctors to identify a greater number of people who are at risk of developing the condition and who would therefore benefit from regular monitoring.
