Researchers have made a groundbreaking discovery of new genetic faults in patients living with the deadly heart condition hypertrophic cardiomyopathy (HCM) which could help transform the diagnosis and treatment of the disease.
The research funded by the British Heart Foundation (BHF) has discovered a new type of genetic change in the DNA of people with HCM, which is a disease that can cause sudden death in young people due to the thickening of the heart muscle, and often goes undetected.
This discovery will help doctors better predict which family members need to be monitored for the heart condition and which can be ruled out from further tests or treatment.
The research has been published in Nature Genetics.
Advancing understanding and care
It is known that HCM is caused by rare genetic faults. However, research has yet to explain why the condition is so varied amongst family members who have the same rare mutation and why some people without these mutations still go on to develop HCM.
BHF Professor Hugh Watkins and his team at the University of Oxford Radcliffe Department of Medicine have discovered that the inheritance of a different type of genetic fault – called ‘common variants’ – not involved in the contractile machinery explains these varied outcomes.
The team compared the DNA of 2,780 people with HCM and 47,486 people without HCM, finding that the number of these common variants, in combination with the rare mutations, determine whether a person is protected or more susceptible to the disease.
The team highlight that another important consequence is that people who have HCM due to the common variants alone are unlikely to pass the disease onto their children, as well as discovering that lowering blood pressure in people with HCM due to these ‘common’ genetic faults could help to prevent the disease from developing.
Watkins said: “It’s now time we think differently about the way this hidden heart condition is detected and treated. We now have a new genetic tool that we believe will better predict which members of affected families will have a bad form of the disease, identifying those who need early intervention. It will also take away the worry for many families as it enables us to identify those who are unlikely to pass faulty genes onto their children. This will reduce the need for unnecessary genetic testing and regular follow-ups.”
Professor Sir Nilesh Samani, Medical Director of the BHF and cardiologist, said: “This research is a major step forward in our understanding of the genetics that underpin hypertrophic cardiomyopathy. It will revolutionise the way we screen people who have family members with this silent killer.
“HCM is one of the most common inherited cardiac conditions, affecting thousands of families across the UK. These discoveries will bring long-awaited answers to many families, and free many individuals from the need for regular clinical checks and the worry of whether they have also inherited the disease.”