Determining the impact of a genetic diagnosis in patients and families with dilated cardiomyopathy (Dr Douglas Cannie)

Dilated cardiomyopathy (DCM), defined as dilatation and systolic impairment of the left ventricle not attributable to abnormal loading conditions or coronary artery disease, is a common cause of heart failure.

Mendelian genetic disorders account for up to 40% of all cases of DCM, but the natural history of specific genotypes is not well described, leading to a lack of consensus about clinical actionability.

This fellowship will utilise a large DCM cohort recruited from University College London (UCL), Barts Heart Centre and an established European, Australian and American consortium to investigate the impact of genotype on clinical outcomes. It will explore the response to medical therapy and the consequences of a genetic diagnosis on family members.

A health economic model will be created to inform future strategies for prospective evaluation of relatives.