There’s fresh hope for hundreds of thousands of people in the UK with the potentially deadly heart condition, dilated cardiomyopathy (DCM), as the British Heart Foundation (BHF) has announced that it has invested over £2 million into the largest ever study of the poorly-understood disease.

DCM hit the headlines after it was identified in George Michael’s post-mortem, and is thought to have contributed to the singer’s death on Christmas day, 2016.
DCM is a condition that stretches and thins the heart muscle so that it becomes ‘baggy’ and is unable to pump blood around the body efficiently. It’s estimated to affect up to 260,000 (one-in-250) people in the UK and is the leading cause of heart transplantation.

However, a staggering 650,000 (one-in-100) people in the UK may risk developing the condition due to a common mutation in the titin protein. This mutation predisposes the heart to developing DCM when it is placed under stress, such as pregnancy, some cancer treatments and possibly other stresses, like alcohol abuse. Development of the condition puts people at greater risk of sudden death, and can also lead to heart failure. After coronary heart disease, DCM is the leading cause of heart failure.

Currently DCM is very poorly-understood, with most causes unknown and poor outcomes for patients – research suggests that 15 per cent of patients don’t survive beyond five years after diagnosis, and up to half of deaths occur within the first two years of diagnosis.

The multi-centre study of over 2,000 patients with DCM across England will investigate the interaction between genes and lifestyle factors to understand more about why people develop the condition and who is at risk of sudden death or heart failure. Six hospital trusts from across England will be recruiting patients for the study.

The researchers will use advanced DNA sequencing, biological markers in the blood and cardiac imaging approaches to assess interactions between genes and seek to discover new genetic mutations underlying DCM, as well as assessing for potential environmental interactions.

Ultimately the study aims to find better ways to diagnose, treat, and prevent people from dying from this disease.

Professor Stuart Cook, Professor of Clinical and Molecular Cardiology at Imperial College, London, is leading the study.

He said, ‘We urgently need to find out more about what causes DCM and identify who is at risk of sudden death or developing heart failure.

‘For about one-in-four patients with DCM we can find a genetic cause, but that leaves us with hundreds of thousands of people with DCM that we can’t explain, which hinders our ability to diagnose and treat the patients or help their families.

‘There are currently no targeted treatments that are specific for DCM, but as we get a better understanding of the genes which cause the condition, we can hope to develop new treatments which target these genes and pathways.’

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