NSW researchers are calling for people diagnosed with inherited cardiomyopathy – diseases of the heart muscle that affect up to 1 in 200 people – to join a new study aimed to improve monitoring and treatment for those affected and their families.

The NSW Hearts study, led by Associate Professor Jodie Ingles at the Garvan Institute of Medical Research, aims to recruit more than 2,000 patients to monitor them over a lifetime. Her goal is to generate a clear picture of how genetics, symptoms and treatment can influence outcomes of inherited cardiomyopathy, so that clinicians and patients can make more informed decisions for screening and care.

While some people with cardiomyopathy experience no symptoms, the disease can lead to breathlessness, limited function and in extreme cases, heart failure and sudden cardiac arrest.

“We currently have very few ways of predicting those most at risk of heart failure and sudden cardiac arrest in people with inherited cardiomyopathy,” says Associate Professor Ingles.

“One of the aims of this study is to change that, and to particularly understand if genetics can help us clarify risk. 

“As a genetic counsellor, I see every day how crucial it is to have more certainty to allow clinicians and patients to make better informed management decisions.” 

The study will collect clinical information and blood samples for genetic sequencing to discover new genetic variants that contribute to the disease in diverse ancestry groups.

The study is recruiting participants aged 17 or over who have been diagnosed with inherited cardiomyopathy and who live in NSW. 

The study is funded by the National Health and Medical Research Council.