An international research team led by the Victor Chang Cardiac Research Institute has discovered that individuals carrying TTN Gene Mutations face a sharply higher risk of developing dilated cardiomyopathy (DCM), a leading cause of heart failure and sudden cardiac arrest. Published August 12, 2025, in the European Heart Journal, the study also revealed that lifestyle and clinical factors—such as obesity, high alcohol consumption, high blood pressure, and diabetes—can significantly speed up the onset of the condition.
Genetic Risk Far Greater Than Previously Measured
The study analyzed more than 3,000 participants from 1,043 families affected by DCM, making it the largest investigation. Researchers found that people with a TTN Gene Mutations were 21 times more likely to develop DCM than relatives without the mutation. In addition, men carrying the mutation were more prone to earlier onset compared to women, highlighting possible differences in disease progression between sexes.
Professor Diane Fatkin, who heads the Inherited Heart Diseases Laboratory at the Institute, said the findings give clinicians a clearer picture of who is most at risk. “Knowing the degree of genetic risk from TTN Gene Mutations means we can keep a much closer eye on these patients and ensure they get early access to medical treatments,” she explained.
Lifestyle and Clinical Factors Accelerate Disease Onset
For the first time, the study quantified how lifestyle and medical conditions interact with the genetic risk of TTN Gene Mutations. High blood pressure, type 2 diabetes, and atrial fibrillation were found to increase the likelihood of developing DCM earlier in life. Obesity and high alcohol intake also played a substantial role in triggering earlier diagnoses.
Professor Fatkin emphasized that these results show the disease is not determined by genetics alone. “Maintaining a healthy lifestyle, eating well, and managing other risk factors could delay the onset of dilated cardiomyopathy for years, even decades,” she said. The team believes these insights could motivate at-risk individuals to make preventive lifestyle changes.
Implications for Early Intervention and Treatment
The findings could have significant implications for preventive cardiology. The researchers suggest that early genetic testing for TTN Gene Mutations, combined with ongoing monitoring and proactive lifestyle management, may help delay or prevent disease onset in those with TTN mutations. This approach could reduce hospitalizations, improve quality of life, and lower long-term healthcare costs.
The study also raises new questions about whether individuals with TTN mutations should begin drug therapy before symptoms emerge. “Could early treatment delay or prevent DCM entirely, and if so, when should it start?” Professor Fatkin asked. Further research and clinical trials will be needed to determine the best course of action.
About the Study
The research team recruited 3,158 patients from Australia, North America, the United Kingdom, Europe, and South Korea. Family members underwent genetic testing and clinical assessments to identify whether they carried TTN Gene Mutations. The investigators examined the relationship between age at diagnosis, type of mutation, and the presence of cardiac risk factors, as well as lifestyle behaviors such as alcohol consumption and exercise patterns.
DCM affects approximately one in 250 people worldwide, around 32 million individuals. Truncating mutations in the TTN gene are the most common genetic cause and can be detected through a simple blood test, offering a potential pathway for widespread screening and earlier interventions.
