There is fresh hope for hundreds of thousands of people in the UK with the potentially deadly heart condition dilated cardiomyopathy. We're investing over £2 million on the largest ever study of this poorly-understood disease.
DCM is a condition that stretches and thins the heart muscle so it becomes ‘baggy’ and is unable to pump blood around the body efficiently. It is estimated to affect up to 260,000 (1 in 250) people in the UK and is the leading cause of heart transplantation.
Additionally, a staggering 650,000 (1 in 100) people in the UK 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% of patients do not survive beyond 5 years after diagnosis, and up to half of deaths occur within the first 2 years of diagnosis.
Research across England
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 dying from this disease.
Finding the genes behind DCM
Professor Stuart Cook, Professor of Clinical and Molecular Cardiology at Imperial College London, is leading the study. Speaking about the complex nature of the condition, he said: “For about 1 in 4 patients with DCM we can find a genetic cause, but that leaves us with hundreds of thousands of people with DCM that we cannot 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.”
Our Medical Director, Professor Sir Nilesh Samani, spoke about the hope this study provides: “This new funding represents a really exciting step towards understanding more about this dangerous condition, and could help us develop new tests and treatments in the future.”
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