Exploring the Impact of Genetics and Lifestyle on Dilated Cardiomyopathy

An extensive study conducted by an international research team, spearheaded by the Victor Chang Cardiac Research Institute, has delved into the significant role genetics and lifestyle play in the development of dilated cardiomyopathy (DCM), a serious heart condition that can lead to heart failure and sudden cardiac arrest.

The research, which involved approximately 3,000 individuals diagnosed with DCM, has revealed that individuals carrying a mutation in the TTN gene are 21 times more likely to develop this condition compared to their relatives who do not possess the mutation. This groundbreaking finding marks a significant advancement in understanding the genetic factors associated with DCM.

In a novel approach, the study also examined how general health and lifestyle factors, including obesity and high alcohol consumption, influence the timing of DCM diagnosis. Published in the European Heart Journal, the research analyzed data from over 1,000 families affected by DCM, indicating that men with the TTN mutation tend to be diagnosed at an earlier age than women.

The research team recruited a total of 3,158 patients from 1,043 families, making it the largest study of its kind to date, with participants from regions including Australia, North America, the UK, Europe, and South Korea. Family members underwent clinical assessments and genetic testing to determine the presence of the TTN mutation.

Initially, the researchers focused on the correlation between the age at which DCM was diagnosed and the type of TTN mutation present. They further investigated how various cardiac risk factors--such as hypertension, coronary artery disease, obesity, diabetes, and thyroid disorders--along with lifestyle habits like alcohol consumption and exercise impact the age of diagnosis.

Lead researcher Professor Fatkin, who heads the Inherited Heart Diseases Laboratory at the Victor Chang Cardiac Research Institute, emphasized the implications of their findings. The study highlights the increased risk associated with mutations in the TTN gene, allowing healthcare professionals to monitor affected individuals more closely and provide timely medical interventions. Furthermore, the research underscores that lifestyle choices also play a crucial role in DCM, suggesting that maintaining a healthy lifestyle can mitigate risks and potentially delay the onset of the disease.

Currently, DCM affects approximately one in every 250 individuals globally, equating to around 32 million people. The TTN gene is recognized as the most prevalent genetic contributor to DCM and can be identified through a straightforward blood test. However, prior to this research, the extent to which these mutations elevate the risk of developing DCM, as well as the influence of other clinical and lifestyle factors, was not well understood.

Additional findings from the study indicate that other clinical factors, such as high blood pressure and type 2 diabetes, also heighten the risk of developing DCM. Notably, a history of atrial fibrillation doubles the likelihood of an individual developing this heart condition.

The study's outcomes highlight the necessity for further research and clinical trials to assess whether individuals with TTN mutations could benefit from early intervention with DCM medications before symptoms manifest. Professor Fatkin noted the many unresolved questions that remain, such as the potential for early drug therapies to delay or entirely prevent the development of DCM and the optimal timing for initiating such treatments.

This research not only enhances the understanding of genetic and lifestyle influences on dilated cardiomyopathy but also paves the way for improved patient care and preventive strategies.