Overview

Hypertrophic cardiomyopathy (HCM), a rare hereditary condition that causes thickening of the heart muscle, is the most common cause of sudden death in children and teenagers. With our funding, researchers have developed a new blood test to identify HCM by measuring 7 proteins in the blood. The test can also identify a further 4 proteins that indicate when there is a greater risk of sudden death. 

About hypertrophic cardiomyopathy (HCM) 

Up to 1000 children in the UK are living with hypertrophic cardiomyopathy (HCM).  Many people with HCM may experience little or no symptoms; however, the condition can pose significant risks. Thickening of the left ventricle can obstruct blood flow, leading to many complications, including heart failure and sudden cardiac death. Currently, there is no cure for HCM. 

About the test

In recent years, the ability to diagnose HCM has improved considerably; however, many of the tests are expensive and may not be routinely available. Two novel diagnostic panels have been developed to diagnose HCM and detect those at risk of sudden death. There is now hope these could be developed for use across the NHS to accelerate diagnosis and treatment for children with HCM. 

One panel is a 7-biomarker proteomics panel that can identify HCM with high sensitivity and specificity. Another 4-biomarker panel can identify those with high adverse arrhythmic outcomes, including sudden cardiac death. This approach enables rapid and simultaneous analysis of panels with high specificity and sensitivity, whilst being minimally invasive and using minimal sample amounts.