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Cardiomyopathies are a group of conditions that affect the structure of the heart, reducing its ability to pump blood around the body. They cause an increased risk of arrhythmia, heart failure, stroke and sudden death. Cardiomyopathies are the leading cause of sudden death in the young and account for about half of all cardiac transplants. They are among the most common severe genetic diseases, occurring with a prevalence of 1 in 250 across all populations.
Hypertrophic cardiomyopathy (HCM), one of the most prevalent cardiomyopathies, was once considered only a monogenic disorder – a disease caused by a mutation in a single gene – and around a third of cases are due to rare genetic faults in a single gene. In monogenic forms of the disease, different family members could have the same inherited mutation, but can develop different severities of the disease or develop the disease at different ages. This makes it difficult for clinicians to advise affected family members on what to expect. More recently, the research teams involved in this latest work discovered that HCM can also be a polygenic disease whereby multiple so-called 'common genetic variants' can also cause disease. A single common variant will have little impact on an individual's risk of developing HCM, but the combined impact of many variants can significantly increase the chances of developing the disease. It is the combined effect of these multiple genetic variants that be used to predict the risk of the disease in patients.
Read the full story on the Radcliffe Department of Medicine website.