Hypertrophic cardiomyopathy

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Research Associate Dr Leanne Felkin

Translational Research Project Grant

Prof Stuart Cook, Imperial College London

Amount: £149,890   Duration: 24 months

Detecting heart muscle stiffening early 

Summary: In hypertrophic cardiomyopathy, the wall of the heart becomes thickened and stiff, making it harder for the heart to pump effectively.  This project aims to develop a simple and affordable blood test to identify and monitor patients at risk of developing heart muscle stiffness so that treatment can begin early.

Hypertrophic cardiomyopathy (HCM) affects 1 in 500 people and is the biggest cause of sudden death in young adults.  In HCM, the wall of the heart becomes thickened and a build-up of fibrous tissue (fibrosis) causes the muscle to stiffen, making it harder for the heart to pump effectively. 

The thickness and stiffness of the heart muscle varies from one person to another and is used by doctors to predict how the disease will progress and to choose the best treatment for each patient.  It’s important that doctors identify muscle stiffening as soon as possible, so that they can begin early treatment to slow down the progression of the disease.  However, while the thickness of the muscular wall can be measured easily, it is much harder to measure muscle stiffening.  Currently, cardiac MRI is the best way of measuring muscle stiffening, but it is expensive and waiting times can be long.  Also, cardiac MRI can only detect muscle stiffening after it has already occurred and cannot be reversed. 

To increase a person’s quality of life and chance of survival, we need a test that can effectively identify people at risk of heart stiffening – before it occurs – because that means it is much more likely to be treated successfully.  HCM is a genetic disease, which means it runs in families and early detection is especially important so that care can be given to people who carry the disease-causing gene but who have not yet developed HCM. 

A simple and affordable alternative to cardiac MRI would be a blood test that measures ‘biomarkers’ of heart muscle stiffness.  Professor Cook’s team has discovered five new markers which are involved in the very early stages of heart muscle stiffening.  This project will investigate whether blood levels of these markers are related to the degree of muscle stiffening in the heart. 

To do this they will use cardiac MRI data from 750 people with HCM to assess the amount of heart muscle stiffening.  They will also sequence their DNA for genes involved in heart disease and develop new, highly-sensitive tests to measure levels of the potential markers in their blood. 

This blood test would help doctors to identify and monitor patients at high risk of developing heart muscle stiffness, benefitting those with HCM and perhaps others with related conditions, such as heart failure.  Also, the research will give insights into the mechanisms of tissue stiffening, helping us to understand how HCM progresses and how it may be treated.