A new research study led by researchers at Royal Brompton and Harefield hospitals (RBHH) has identified new subtypes of dilated cardiomyopathy (DCM), a disease of the heart muscle.
The research was published in the Journal of the American College of Cardiology and suggests that these distinct subtypes may have different underlying causes.
The research has already been recognised internationally, with the lead researcher, Dr Upasana Tayal, cardiology registrar at RBHH and clinical lecturer at Imperial College London, awarded the prestigious Young Investigator of the year award for the research at the American College of Cardiology Conference in 2021.
DCM is a disease of the heart muscle where it becomes stretched and thin, making it difficult to pump blood around the body effectively.
The disease is estimated to affect approximately 1 in every 250 people in the UK, with the most common symptoms including tiredness, shortness of breath and swollen legs.
In some patients the cause of DCM is unknown, whilst for others it is caused by a mutation in one or more genes which increases the likelihood of developing the disease.
Whilst many patients do well, some patients will need a heart transplant and the disease can also cause sudden death. There are many treatments available for the disease but they do not work for every patient.
However, there are many new ways to define or monitor the disease, such as blood markers and imaging tests, and this research set out to harness this new information to improve understanding of the disease.
Thanks to machine based learning tools used on data from the cardiovascular biobank at RBHH, alongside clinical, genetic and imaging data, the research team were able to identify three new subtypes of DCM.
The subtypes highlight new types of DCM, each with distinct differences. For example, patients with the new subtype known as profibrotic metabolic subtype, were more likely to diabetes, heart scarring and kidney damage than the other patients. Patient survival also varied by subtype, with the new subtypes better at indicating how the disease would progress compared to traditional disease markers.
What do these results mean for patients with DCM?
Identifying subtypes within a disease means that patients may potentially benefit from personalised medicine, a model that allows treatments and therapies to be tailored to a subgroup of patients, rather than a ‘one‐treatment‐works‐for-all’ approach.
Identifying the variations that exist within DCM will also help clinicians to better understand the disease and its variations. It will also allow researchers to develop treatments which target the right patients at the right time.
Dr Tayal stressed the importance of patients and collaborators in pulling this research together and said:
“I’m immensely grateful to all the patients who participated in this study. I’m very proud of this work and the huge team effort required to get a study like this completed.
“The research was an international collaboration between our team led by Professor Sanjay Prasad and leading scientists from the US and Europe. Successful international collaborations are the key to making progress in DCM research.”
You can access the paper here.
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