Hypertrophic cardiomyopathy (HCM) is a common form of heart disease, affecting 1 in 200 people. In HCM, the heart muscle thickens and over time this can lead to other health problems, such as shortness of breath or even sudden death.
There are limited tools to help identify people at risk of poor outcomes related to their disease or to monitor or predict the rate of disease progression. Imaging, using MRI, is currently the best tool to diagnose HCM and to help guide decision making by the clinical care team. Frequent follow-up MRIs would be helpful but are neither feasible nor would they give a complete picture of disease progression. The researchers plan to develop a blood test that can identify people at risk of heart failure and to monitor HCM disease progression.
To develop this blood test, the research team will first aim to understand differences between HCM hearts and normal hearts using many tools, from pictures of the entire heart muscle all the way down to single heart muscle cells. Next, they will analyze all available imaging and clinical data from HCM patients. They will also study heart muscle tissue removed from patients who underwent surgery to relieve obstruction caused by their thickening heart muscle using a new single-cell technology that the team helped to develop. Finally, they will analyze these patients' blood to find protein markers related to HCM disease progression.
Their ultimate goal is to give patients and their caregivers an effective test which provides unique insights into their heart disease and can change management. This will become increasingly important in the coming years as new therapies are tested for HCM that hold the hope and promise of halting or reversing disease progression in HCM.