New cause of inherited heart condition discovered

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. 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).