LONDON (Dispatches) --
Scientists at University College London have identified a new gene as a cause of hypertrophic cardiomyopathy, an inherited heart condition affecting one in 500 people.
The discovery provides a new causal explanation for 1-2% of adults with the condition. (In the UK, this is approx. 1,250-2,500 people.)
According to 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.
In hypertrophic cardiomyopathy, heart muscles are thicker, which can make it harder for the heart to receive and pump blood. While in most cases the condition will not affect daily life, it can cause heart failure and is frequently cited as the most common cause of sudden unexpected death in young people.
Lead author Dr Luis Lopes said: “Hypertrophic cardiomyopathy is an extremely common genetic condition. Earlier, small-scale studies suggested that variants in the ALPK3 gene could be a cause of a rare paediatric form of cardiomyopathy, but only when two abnormal copies were inherited. We have now proved that just one abnormal copy is enough to cause hypertrophic cardiomyopathy in adults, looking at a large number of patients and families. This form of inheritance (autosomal dominant) is much more prevalent, as inheriting just one abnormal copy of a gene is more likely than inheriting two.