How Genetics and Lifestyle Influence the Development of Dilated Cardiomyopathy

An international research team led by scientists from the Victor Chang Cardiac Research Institute has conducted an extensive study involving approximately 3,000 individuals affected by dilated cardiomyopathy (DCM), a condition that significantly contributes to heart failure and sudden cardiac arrest. The research provided new insights into how genetic mutations and lifestyle factors interplay to influence disease onset.

The team found that individuals carrying mutations in a specific gene called TTN were 21 times more likely to develop DCM compared to their relatives without the mutation. This highlights the profound genetic risk associated with TTN mutations. Moreover, for the first time, the study demonstrated that general health and lifestyle choices, such as being overweight or consuming large amounts of alcohol, also play crucial roles in accelerating the diagnosis of DCM.

The large-scale study involved 3,158 patients from 1,043 families across Australia, North America, Europe, the UK, and South Korea. Family members underwent clinical assessments and genetic testing to identify TTN mutations. Researchers explored the relationship between age at diagnosis and various factors, including specific genetic mutations, clinical conditions like high blood pressure, diabetes, coronary artery disease, and lifestyle habits such as alcohol consumption and exercise routines.

Professor Fatkin of the Victor Chang Institute emphasized the importance of these findings, stating that mutations in the TTN gene significantly elevate DCM risk. Recognizing this can enable early monitoring and treatment. She also pointed out that lifestyle modifications, such as maintaining a healthy weight, moderating alcohol intake, and managing other health conditions, could potentially delay or prevent the disease for decades.

Dilated cardiomyopathy affects about 1 in 250 people globally, totaling around 32 million individuals. The most common genetic cause involves truncating mutations in the TTN gene, which can be detected through a simple blood test. While genetic testing can identify at-risk individuals, it remains uncertain how clinical and lifestyle factors further influence disease development.

Additional clinical factors like high blood pressure, type 2 diabetes, and atrial fibrillation were associated with increased disease risk, with atrial fibrillation doubling the likelihood of developing DCM. The findings underline the need for further research and clinical trials to determine whether early intervention with medications could prevent or delay disease onset in genetically predisposed individuals.

Professor Fatkin concluded by highlighting the potential for early preventive strategies and personalized medicine, emphasizing the importance of ongoing research to improve outcomes for those at risk of DCM.