Genetics in Cardiomyopathy

Genetic (inherited) cardiomyopathy describes a group of diseases involving the muscle of the heart that are caused by a change in a gene that the individual is born with.

Other types of cardiomyopathies can be caused by non-genetic or lifestyle factors e.g. viral cardiomyopathy.

Genetic testing can be used to identify variants in known associated genes. This can be helpful for diagnosing the condition in individuals who have a family history of cardiomyopathy, or who are experiencing symptoms of the condition. However, testing may also be inconclusive as not all cardiomyopathy genes have been identified.

Genetic testing is not always necessary for diagnosing cardiomyopathy. The condition can also be diagnosed based on clinical symptoms, such as the physiology and functioning of the heart, and abnormal heart rhythms.

Genetic counselling is recommended for individuals with genetic cardiomyopathy and their family members. This can help them understand the inheritance pattern of the condition and make informed decisions about family planning and medical management.

There is ongoing research into the genetics of cardiomyopathy, including efforts to identify new genes that may be involved in the condition and to develop targeted therapies based on specific genetic mutations. (Scroll to the bottom of the page to learn more about current research opportunities).

Cardiomyopathy Genetic Testing

Genetic testing centres


Cardiac Genetics Clinic
Royal Melbourne Hospital
Prof Paul James, A/Prof Dominica Zentner, Dr Mark Perrin, A/Prof Alison Trainer, Mrs Tina
Contact:  Tina +61 3 9342 7151 or

Cardiac Genetics Clinic
Monash Medical Centre
Dr Matthew Hunter, Dr Kunal Verma, Ms Fiona Cunningham
Contact: Fiona +61 3 9594 2026

Paediatric Inherited Cardiomyopathy/Arrhythmia Service
The Royal Children’s Hospital Melbourne
Cardiology Depart
Contact: Vanessa +61 3 9345 5724

Inherited Cardiomyopathy/Arrhythmia Genetic Counselling Service
Victorian Clinical Genetics Services
Royal Children’s Hospital, Melbourne
Contact: Ivan  +61 3 8341 6373

Cardiac Genetics Clinic
Austin Health, Heidelberg
Dr Simon Bodek, Ms Heather Chalinor
Contact: Heather +61 3 9496 3027,

New South Wales

VCCRI Research Program - Familial Dilated Cardiomyopathy ± Conduction abnormalities, Familial Atrial Fibrillation
VCCRI, St Vincent’s Hospital, Darlinghurst
A/Prof Diane Fatkin, Ms Renee Johnson
Contact: Renee +61 2 9295 8767

Cardiac Genetic Clinic
Liverpool Hospital
Prof John French, Dr Sulekha Rajagopalan
Contact: (ph) 02 8738 4665 (fax) 02 8738 4650

Hunter Genetics
HNE Health
Dr Anne Ronan, Ms Angela Ingrey
Contact: ph: (02) 4985 3100 fax: (02) 4985 3105


Cardiac Genetic Clinic
Royal Brisbane & Women’s Hospital
A/Prof John Atherton, A/Prof Julie McGaughran, 

Western Australia

Genetic Services of Western Australia
King Edward Memorial Hospital
Level 4 Agnes Walsh House
374 Bagot Road
Subiaco 6008
Obstetric and General Genetic Services
Front desk phone: 08 6458 1525

South Australia

Adult Genetics Unit
Royal Adelaide Hospital
Level 8 (8F401.52; MDP 63)
Port Road
Dr Nicola Poplawski (Clinical Geneticist and Head of Unit)
Dr Krzysztof Bernatowicz (Clinical Geneticist)
Dr Kathryn Waddell-Smith (Genetic Cardiologist)
P (+61) (0)8 7074 2697
F (+61) (0)8 8429 6112

New Zealand

Cardiac inherited Disease Group (CIDG)
Chaired by Dr Andrew Martin (Electrophysiologist/Cardiologist)
Contact: Jackie CrawfordNational Clinical Coordinator CIDG or

Professor James Ware discussed genetics in cardiomyopathy

Current Research Opportunities

New South Wales

NSW HEARTS is a study which aims to improve our understanding of inherited cardiomyopathies. The study is led by a dedicated team of clinicians and scientists based in New South Wales (NSW) Australia. It is funded by the National Health and Medical Research Council. It is open to residents of NSW. For more information, visit

Western Australia

Seeking feedback on Genetic Services Western Australia

Health Consumers’ Council is working with the Department of Health WA to gather feedback from people who have used Genetic Services Western Australia (GSWA).

You might have seen GSWA for genetic screening or testing, or for the diagnosis or management of a genetic condition. You might have seen a geneticist or genetic counsellor, or both.

The feedback will be used to develop held GSWA plan for their future, and to improve the experience of those who use their services.

They want to hear from:

  • Patients or clients of GSWA, who have attended an appointment in the last 10 years
  • People who have been referred to GSWA by a GP or specialist in the last 10 years, but didn’t attend an appointment
  • Carers of patients or clients of GSWA
  • People who work for community, peer support or consumer advocacy organisations that support people living with genetic conditions who may have attended GSWA

There are several ways you can provide your feedback:

  • You can fill out a short survey here AND/OR
  • You can join a group community conversation in August by  registering here OR
  • You can request an individual phone interview (please contact per the details below)

You can find out more about this project, and about GSWA, in these FAQs.

If you have any questions, or would like to request an interview, please contact Kieran at Health Consumers’ Council on (08) 9221 3422 or

Postal address: PO Box 43, Doncaster Heights,
Victoria 3109, Australia

36 091 171 470