Imperial College London

Largest ever study of fatal heart condition which affects 260,000 people in UK

by

Man clutches chest and leans against wall

The largest ever study of the heart condition dilated cardiomyopathy (DCM) is underway.

There is fresh hope for hundreds of thousands of people in the UK with the potentially deadly heart condition dilated cardiomyopathy (DCM), as the largest ever study of the poorly-understood disease begins led by Professor Stuart Cook of the National Heart and Lung Institute. The research is funded by an investment of over 2 million pounds by the British Heart Foundation (BHF).

“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” Professor Stuart Cook Study lead

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 it becomes ‘baggy’ and is unable to pump blood around the body efficiently. It is estimated to affect around 260,000 (1 in 250) people in the UK and is the leading reason for heart transplantation (Ref: The Registry of the International Society for Heart and Lung Transplantation).

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 including the Royal Brompton and Harefield NHS Trusts and Imperial College London.

A staggering 650,000 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. Ultimately the study aims to find better ways to diagnose, treat and prevent people dying from this disease.

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.

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.

Professor Sir Nilesh Samani, Medical Director of the British Heart Foundation, which is funding the study, said:

“In many cases, we are able to track the inheritance pattern and test family members of people with inherited heart conditions. But unfortunately genetic testing is often not helpful for people with DCM, as we only know about a small number of genes which cause the condition. DCM is a complex condition and can be caused by a variety of genetic and environmental factors".

Supporters

Reporter

Helen Johnson

Helen Johnson
National Heart & Lung Institute

Click to expand or contract

Contact details

Tel: +44 (0)20 7594 6843
Email: helen.johnson@imperial.ac.uk

Show all stories by this author

Tags:

Genomics, Public-health, Cardiovascular
See more tags