Project Summary
Identifying new biomarkers to predict the risk of adverse cardiac event for patients suffering from congenital cardiac-myopathy.
What is the issue for NSW?
Primary cardiac myopathies refers to inheritable heart diseases, characterised by weak heart muscles. A major form of these disorders is left ventricular non compaction (LVNC). LVNC is one of the most common cardiomyopathy. A portion of LVNC patients is asymptomatic and at high risk of suffering from severe cardiac dysfunction when exposed to adverse conditions. This ranges from heart failure (occasionally transplantation), arrhythmia or thromboembolism. Therefore, there is need to refine risk stratification in these patients in order to reduce the burden of the disease and to improve LVNC patients lifestyle quality.
Despite great advances in cardiac imaging, LVNC is over-diagnosed. Due to the lack of complementary data in patients to predict disease outcomes, a majority of LVNC patients and their families face distressful situations, therefore limiting a healthy contribution to the community.
What does the research aim to do and how?
The research aims to identify in pre-clinical model of cardiac non-compaction, new molecular markers using cutting edge molecular biology method combined with mouse genetics as well as heart in a dish model system (also known as human cardiac organoid).
Knowledge generated from these pre-clinical models will be translated to clinical investigation in cardiology. Patients suffering from LVNC will be monitored and tested for novel biomarkers to assess whether this improves the predictability of cardiac complications.