Genetics of heart failure due to heart rhythm disorders

Dr Geoffrey Wong, Melbourne Health

2019 Postdoctoral Fellowship

Years funded: 2020-2022

Heart failure (HF) is a disease in which the pumping ability of the heart is impaired. It represents a significant burden on healthcare worldwide, affecting over 23 million people.

Disturbances of heart rhythm, known as arrhythmias, are under-recognised and reversible causes of heart failure. Heart failure caused by arrhythmias is known as tachycardia-mediated cardiomyopathy (TCM). Atrial fibrillation (AF) is the most common cardiac arrhythmia, and both AF and HF are emerging epidemics in the developed world. Both conditions individually, and frequently in combination, commonly cause decreased quality of life, stroke and death.

The impact on society is considerable, with AF-related hospitalisations increasing by 7.9% annually, at an estimated annual cost of $1.25 billion to the Australian economy. Given symptoms and clinical predictors are unreliable, it is often very difficult to predict which patients with heart rhythm problems go on to develop HF. Recent large genetic studies have suggested that genes play a significant role in HF. However, the mechanisms by which genetic variants lead to an increased risk of HF due to arrhythmia remain unknown. Our research aims to demonstrate that individuals who carry certain genes are more likely to develop heart failure in the setting of having an arrhythmia. In doing so, we will perform the first detailed analysis investigating a link between genetic factors and TCM.

This will help to significantly improve the identification of patients who are at higher risk of developing TCM, and will benefit from earlier and personalised preventative treatment to halt the progression to heart failure. Through genetic testing, family members may also benefit from appropriate counselling and early surveillance to prevent this treatable disease. Decreasing HF-related complications will markedly improve patient outcomes and also reduce the significant economic burden of this disease on the healthcare system.