Research identifies new cause of inherited heart condition
London, UK - September 27, ANI : A UCL-led research team has identified a new gene as a cause of an inherited heart condition affecting one in 500 people.The findings of the study were published in the 'European Heart Journal'.The discovery provides a new causal explanation for 1-2 per cent of adults with hypertrophic cardiomyopathy., In the UK, this is approximately 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.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.About half of cases already have known genetic causes, linked to eight to 10 specific genes, only two of these single genes were found in the last decade, .Lead author Dr Luis Lopes, UCL Institute of Cardiovascular Science - also a Consultant Cardiologist at Barts Health NHS Trust, 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," Dr Lopes added."Identifying a new genetic cause is important as it opens up new possibilities for potential treatment. It also helps families who have been affected by the condition, but who did not know why, to know that a cause has been found for their specific case," Dr Lopes continued.