New research highlights combined impact of genes and lifestyle on dilated cardiomyopathy

By Admin

12 Aug, 2025

A global breakthrough in understanding heart disease risk
An international team, led by scientists from the Victor Chang Cardiac Research Institute, has uncovered new insights into the heart condition dilated cardiomyopathy (DCM)   a major cause of heart failure and sudden cardiac arrest. Studying over 3,000 people from 1,043 families across Australia, North America, the UK, Europe, and South Korea, the research focused on the role of a genetic mutation in the TTN gene and how lifestyle factors influence the disease’s onset.

The role of the TTN gene in DCM
The study revealed that individuals carrying a truncating mutation in the TTN gene were 21 times more likely to develop DCM compared to family members without the mutation. Affecting roughly 1 in 250 people worldwide   around 32 million individuals   DCM is often linked to TTN mutations, which can be detected through a simple blood test. However, until now, the precise risk and the influence of other contributing factors were unclear.

Lifestyle and clinical factors accelerating diagnosis
For the first time, the researchers established that lifestyle choices and overall health significantly impact when the disease develops. Being overweight, consuming high amounts of alcohol, or having conditions such as high blood pressure or type 2 diabetes increased the likelihood of an earlier diagnosis. Additionally, a history of atrial fibrillation doubled the risk. Men with TTN mutations were also found to develop DCM at a younger age than women.

Implications for early intervention
These findings suggest that people with TTN mutations may benefit from preventive measures before symptoms appear. Professor Fatkin, one of the lead authors, notes that critical questions remain: Should drug therapies be introduced earlier to those at risk? Could this delay or prevent the disease entirely, and if so, when should treatment begin?

About the research
Published in the European Heart Journal, this was the largest study of its kind, assessing genetic profiles, clinical histories, and lifestyle patterns to understand how these factors together influence DCM development. Researchers now aim to explore targeted prevention strategies through further trials.

A path toward better prevention
By showing that both genetics and lifestyle choices matter, this research emphasizes the importance of genetic testing, healthy habits, and proactive healthcare   potentially paving the way for earlier interventions that could change the course of DCM for millions worldwide.