29 July 2025
Researchers at Royal Brompton and Harefield hospitals have found that there are differences in the causes of dilated cardiomyopathy (DCM) in males compared to females.
The research was led by Dr Upasana Tayal, consultant cardiologist, and follows on from another study from her group published earlier this year which confirmed that DCM affects twice as many men as women, even in genetic forms. However, until now it was not clear whether this was true at the level of individual genes.
DCM is a condition where the heart becomes enlarged causing the heart muscle to stretch and become thin. This affects how well the heart pumps blood out and can lead to heart failure symptoms, or arrhythmia.
In many cases the cause of DCM is unknown, but for some it is genetic and is caused by a mutation to one or more genes.
The research team looked at differences in the genes that cause DCM in females compared to males. They found that mutations in the titin gene were more common in males with DCM and that mutations in the gene desmoplakin were more prevalent in females with DCM.
The titin gene provides instructions to create a protein crucial for muscle function, particularly cardiac muscles. The desmoplakin gene provides instructions for creating a protein which is crucial for the binding between cells in the heart.
Dr Tayal said:
“We now find that there are important differences in the genetic causes of DCM between males and females. The majority of genes that cause DCM appear to affect males and females similarly. However, there are two important exceptions.
“Firstly, variants in the desmoplakin gene account for a larger proportion of female patients with DCM compared with male patients. At a population level, we also show that variants in desmoplakin confer a greater risk of DCM in females.
“Secondly, variants in the titin gene account for a larger proportion of male patients with DCM compared with female patients, and they confer a greater risk of DCM in males in the population.”
Dr Tayal highlighted the clinical significance of these findings which could “potential identify a higher risk sub-group of female patients with DCM. Patients with desmoplakin variants have more complications than patients without and female sex is associated with a worse outcome in desmoplakin cardiomyopathy.”
The next step for Dr Tayal and her team will be to focus on why titin and desmoplakin cardiomyopathy affects males and females differently.
This research was published in the Journal of the American College of Cardiology and undertaken in collaboration with Imperial College London.
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