What is dilated cardiomyopathy?
It is a disease occurring mostly in adults aged 20 to 60, more commonly affecting men. Essentially, the heart muscle begins to stretch and become thinner (dilate), often starting in the left ventricle – the heart’s main pumping chamber – and then spreading to other areas as the disease progresses. The dilated heart muscle doesn’t contract normally and has a reduced ability to pump blood. The muscle gradually weakens until heart failure can occur.
The cause of dilated cardiomyopathy often isn't known, however, as many as one-third of those who have the disease inherit it from their parents.
What is your role in the dilated cardiomyopathy project?
I am coordinating patient recruitment and serve as primary contact for clinicians interested in enrolling patients. I am involved with the organisation and presentation of multi-disciplinary clinical meetings, where I serve as a liaison between key contributing cardiology and genetic departments within the Alliance.
Which patients are involved?
Adults and children with dilated cardiomyopathy (DCM) and related diseases, with an emphasis on young adults and cases where DCM occurs in more than one family member. Patients will be recruited through Austin Health, Monash Medical Centre, The Royal Melbourne Hospital and The Royal Children’s Hospital. These hospitals draw patients from across Victoria.
What excites you about the project?
I am excited to collaborate and exchange knowledge with a vibrant and interactive team comprised of highly qualified professionals, including clinical geneticists, cardiologists, medical specialists, laboratory staff, genetics counsellors and data managers.
What do you hope to achieve?
This project has enormous potential to improve our understanding and management of genetic DCM. Our goal is primarily to demonstrate the ability of whole exome sequencing to identify specific genetic diagnoses. This can provide clinicians with insight into underlying disease biology, which may, long-term, lead to more personalised risk assessment and management for patients and their relatives.
Can you tell us a bit about you?
I am a part-time Consultant Cardiologist at the Austin Hospital. My clinical interests are in cardiac imaging, preventative cardiology and cardiovascular genetics. I am currently undertaking a PhD at the University of Melbourne, investigating the role of novel biochemical and genetic markers in cardiovascular disease.
For more on the Flagship, read here.