iPRISM (Imaging-enhanced Prediction of RIsk for Sudden cardiac death in hcM)

Project Summary Hypertrophic cardiomyopathy (HCM) is an inherited heart condition where the heart is thicker than normal. It is an inheritable genetic condition and the most common cause of sudden collapse and death (SCD) in children. SCD can be prevented by placing an internal defibrillator (ICD) which can stop life-threatening arrhythmias by delivering an electrical shock to the heart. However, ICD placement involves surgery, can cause multiple problems and is expensive. Therefore, we need to make sure we place ICDs only in those who are likely to need them while avoiding them in those who do not. For that decision it is important to understand a patient's risk for SCD. Current methods to assess risk of SCD in HCM are inaccurate. They use elements from the patient's history and tests such as the echocardiogram and electrocardiogram. Work on adults and some studies in children) suggest that findings on genetic testing and scars in the heart muscle detected by magnetic resonance imaging (MRI) scanning are also markers of SCD risk. In this study we will examine the gene test findings and heart MRI scans of children and adolescents with HCM in greater detail. Careful study of the scars, including their presence, extent, and appearance, will help us develop a better understanding of who is at risk for SCD. We will combine this information and other risk factors to develop a new tool to better know the likelihood of SCD. We will then tests how well this tool works in a separate group of children with HCM. In addition to analyzing the images by an experienced MRI physician, we will use artificial intelligence to extract additional information from the images and explore whether any of it can improve the prediction of SCD. We expect that our study will improve our ability to predict SCD and save lives of children with HCM.