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



NSW Hearts began as a study within NSW but has now expanded to all of Australia. 

It is a research study aiming to better understand the causes of inherited cardiomyopathies. We plan on doing this by recruiting over 3000 people living in Australia with an inherited cardiomyopathy.

We are asking you to consider enrolling:

  1. If you are over 17 years old
  2. Diagnosed with inherited cardiomyopathy
  3. Live in Australia 

In this study we will ask you to complete surveys and individuals in NSW will provide a blood sample.

If you are interested in learning more about the study or participating, you can contact the

study team at

Postal address: PO Box 2006, Surrey Hills,
Victoria 3127, Australia

36 091 171 470