Predicting Cardiac Risk

The Challenge

Sudden cardiac death refers to an unexpected death caused by a sudden loss of heart function. Sudden cardiac death is often triggered by dangerous genetic mutations. While identifying these mutations is essential for prediction and prevention, understanding the underlying mechanisms remains limited. Sudden cardiac death is a major health concern. Each incident costs society around $3 million, meaning that preventing 10% of these deaths in young Australians could save approximately $40 million annually. 

Project Overview 

The Victor Chang Cardiac Research Institute has investigated variants in genes that encode ion channels, which are the proteins that control the movement of electrical signals between cells. The majority of genetic disorders that lead to an increased risk of sudden cardiac arrest are caused by these mutations. By further identifying and understanding genetic mutations, the research team aims to improve the prediction of sudden cardiac death and ultimately save lives. 

‍Project Outcomes

• Global Adoption: Assays adopted by gene testing services worldwide.
• Public Database: Establishment of a database with detailed information on ion channel gene variants.
• Personalised Risk Assessment: Use assays in combination with ECG analysis to personalise risk assessment for patients with inherited arrhythmia syndromes.

Measuring Impact

Hearts & Minds measures its impact across six core categories as developed by the Association of Australian Medical Research Institutes. Key highlights include:

Advancing Knowledge

• Citations: 88 citations to work published from this project in the last 24 months.
• Knowledge Sharing: Presentations, lectures and collaborations with prominent institutions worldwide.
• Awards: Multiple recognitions, including the NSW Ministerial Award for Cardiovascular Research Excellence, NHMRC Investigator Grant, Young Investigator Award at the International Cardiovascular Clinical Genetics Conference, and Best Student Poster at the Gordon Research Conference on Cardiac Arrhythmia Mechanisms.

Research Capacity Building

• Diverse team and emerging talent: Six female scientists, seven honours students and three PhD students trained in state-of-the-art technology.
• Data Sharing: Collaboration with Vanderbilt and InVitae to develop a universal data repository and test the utility of data.
• Global panels: Jamie Vandenberg (2023) and Andy Ng (2024) invited to international ClinGen consortium expert panels for cardiac potassium (2023) and sodium and calcium channel genes (2025), shaping global clinical genetics standards.

Health Impacts

The program aims to:

• Improve Screening: Screen individuals at risk of inherited heart disorders and enable preventive measures.
  Broaden Applications: Long-term potential to assess approximately 400 ion channel genes linked to various disorders.

Economic Impacts

• Cost Savings: Preventing 10% of sudden deaths in young Australians could save ~$40 million per annum.

Social Impacts

• Health Literacy: Improved understanding and attitudes towards inherited heart disorders.
• Service Accessibility: Enhanced access to screening and preventive measures for at-risk individuals.

Informing Decisions

• Expert Panels: Participation in international committees to guide clinical genetics.‍
• Adoption by Labs: Assay results used by diagnostic gene testing labs to classify gene variants and aid clinical decisions.

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This project is crucial for advancing the prediction and prevention of sudden cardiac death. By identifying and understanding genetic mutations, this project aims to save lives, reduce healthcare costs and improve the quality of life for individuals with inherited heart disorders. 

‍Funding support from Hearts and Minds Investments. This content was last updated in August 2025, for further information and updates, visit ‍Victor Chang Cardiac Research Institute.