Familial cardiovascular disease comprises several distinct cardiac conditions that affect approximately 1 in 500 Australians. Genetic variation plays a critical role in the development of such cardiomyopathies.

In 2015, the Victor Chang Cardiac Research Institute and the Garvan Institute established an exciting joint initiative. This initiative aims to advance the use of whole genome sequencing (WGS) to improve diagnosis, clinical management and research in familial cardiovascular diseases, such as dilated cardiomyopathy (DCM).

DCM is a myocardial disorder defined by dilation and contractile dysfunction of the left and right ventricles and has a significant hereditary component.

This program is developing a state-of-the-art vehicle to undertake genomic studies in patients with cardiovascular disease. The program’s specific focus is on WGS and spans recruitment of index cases and their relatives with congenital or adult-onset heart disease, analysis and acquisition of WGS data, and incorporation of WGS results into the clinical management of affected patients and their families.