Genetic heart muscle diseases – improving diagnosis and evaluating new treatments

Associate Professor Rebecca Kozor, University of Sydney

Future Leader Fellowship

Years funded: 2026 - 2029

Genetic cardiomyopathies are heart muscle diseases caused by genetic changes. The most common type is called hypertrophic cardiomyopathy (HCM), characterised by abnormal thickening of the heart muscle. HCM affects about 1 in 500 people and can lead to serious complications, such as sudden death, dangerous heart rhythms, reduced pumping function, unwanted symptoms, and lower quality of life. In 2022, a fundamentally new oral medication (mavacamten) was approved for a subtype of HCM, and now several more drugs are being developed. These new drugs are revolutionising the management of HCM, but research is now needed to understand their full impact, identify who benefits most, and determine how the treatments can best be utilised. As an academic cardiologist with expertise in heart imaging, I am establishing a new genetic cardiomyopathy research-integrated clinic at my hospital to provide patient-centred care and expand access to treatments, as well as establishing a genetic heart disease network across NSW that will support both healthcare delivery and research. My vision is to make this research platform a leader in the field of genetic cardiomyopathies, with three main objectives: 1) To improve diagnosis, 2) To gain deeper insights into disease mechanisms, and 3) To monitor the effects of new treatments in patients and family members. I will do this through clinical studies across our network using state-of-the-art heart tests, such as advanced electrocardiography (A-ECG) and cardiovascular magnetic resonance imaging (CMR). A-ECG involves digital technology and artificial intelligence-like methods to analyse the electrical activity of the heart. It is a new tool developed by and uniquely available to my research team, and it greatly improves the ability to identify disease. My research will assess A-ECG’s ability and utility to screen for HCM, identify patients suitable for new drugs, and monitor treatment. My research team has also developed advanced heart imaging technologies using CMR together with international research collaborators, which my research will utilise to obtain detailed information about patients’ hearts to improve diagnosis, monitor drug treatments, aid risk prediction and move towards personalised treatment approaches. I am also working closely with the community group ‘Cardiomyopathy Australia New Zealand’ to engage patients, disseminate research findings, and support clinical translation. Overall, my research program will improve knowledge, advance diagnostic techniques, inform further larger-scale clinical trials, and form the basis for clinical guidelines, to ensure that patients receive the most effective and personalised care in this rapidly growing field.