Project 461417

Hypertrophic cardiomyopathy (HCM) is a genetic disease where the heart muscles stiffen and become abnormally thick, making it harder for the heart to pump blood. This disease severely impacts infants and youths, causing poor health and even death. Although there are treatment options available to HCM patients, our inability to accurately assess their risk and disease progression limits how effectively we can treat them. We know this disease is caused by genetic mutations. Like many genetic diseases, the link between mutation and the progression of disease and outcomes is still poorly understood, although we know that this link is fundamental to understanding the risk of each patient. We therefore need to improve our ability to identify patients at greater risk than others and offer them treatment at the right time. Thanks to a new technology called ultrasound ultrafast imaging, we are now able to non-invasively estimate heart stiffness in a HCM patient. Therefore, the objective of this research project is to understand the link between heart stiffness, genetic mutation, and clinical events in pediatric and young adult HCM. This will allow us to determine our measure of heart stiffness can accurately predict disease progression. Our 4-year research study will recruit infants, youths and young adults with HCM in four hospitals across Ontario. We will perform genetic testing and annual assessments of heart function and heart stiffness. We will also recruit a group of healthy volunteers to compare how a normal heart behaves. We aim to have a complete dataset allowing us to accurately determine the links between the genes identified, heart stiffness, and related HCM complications. This research project promises to redefine how we diagnose and anticipate the risks related to each patient. Thanks to our expertise in heart stiffness assessment and genetic HCM, our multicentre collaboration could change the paradigm of this disease.