Dilated cardiomyopathy reduces the heart’s pumping function – in severe cases resulting in heart failure and death. Although the cause often isn’t known, up to one-third of dilated cardiomyopathy is inherited.
We are investigating whether genomic sequencing can provide a more exact diagnosis from a single test for dilated cardiomyopathy patients, and whether it can better identify other at-risk family members who may benefit from early intervention.
Improved detection of inherited cardiac conditions should prevent death and disability.
Click here for information on Melbourne Genomics' dilated cardiomyopathy project.
“A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy”, Max Catchpool, Jay Ramchand, Melissa Martyn, David L. Hare, Paul A. James, Alison H. Trainer, Josh Knight and Ilias Goranitis, Genetics in Medicine (2019) https://doi.org/10.1038/s41436-019-0582-2
“Mapping the Minnesota Living with Heart Failure Questionnaire (MLHFQ) onto the Assessment of Quality of Life 8D (AQoL-8D) utility scores", Max Catchpool, Jay Ramchand, David L. Hare, Melissa Martyn and Ilias Goranitis, Quality of Life Research (2020) https://doi.org/10.1007/s11136-020-02531-4
“Prospective evaluation of the utility of whole exome sequencing in dilated cardiomyopathy”, Jay Ramchand, Mathew Wallis, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L. Hare and Paul James, Journal of the American Heart Association (2020) https://doi.org/10.1161/JAHA.119.013346