Scientists at Imperial College and clinicians at the Imperial College Healthcare NHS Trust and the Royal Brompton and Harefield NHS Foundation Trust have been working together over the last 10 years to improve understanding of the genetics of heart disease, and in particular, dilated cardiomyopathy (DCM), a common form of inherited cardiac disease which causes enlargement of the heart and carries a significant risk of premature death.

Imperial College AHSC researchers identified major new disease genes associated with DCM including the Titin gene, which is now recognised as the most prevalent genetic cause of the disease.  As a result, international guidelines have changed and the clinicians are now routinely testing for Titin. To this end, AHSC researchers have developed a gene sequencing kit for 17 known inherited cardiac conditions, and web-based tools to help clinical genetics laboratories interpret genetic test results for cardiac disease (www.cardiodb.org), both of which are now being used in laboratories worldwide.

The benefit of this research is that it has provided new avenues to explore the treatment of DCM but also importantly the routine genetic testing now available allows unaffected patients and their family members to be relieved of the worry and anxiety of having inherited dilated cardiomyopathy and other conditions. This improves their quality of life significantly and also reduce utilisation of health care resources as unaffected individuals can be discharged from hospital care.