Defining the effects of genetic variation using machine learning analysis of CMRS

Introduction Hypertrophic cardiomyopathy (HCM) is characterised by great phenotypic diversity and broad spectrum of clinical courses. The genetic, environmental and phenotypic determinants of outcome remain poorly understood. We integrated machine-learning analysis of cardiovascular magnetic resonance (CMR) with computational modelling to define the effects of genetic variation on the heart in both HCM patients and heathy volunteers.Methods Healthy volunteers were recruited at Imperial College London (n=1367) and National Health Centre Singapore (n=754). Patients with HCM were enrolled at the Royal Brompton Hospital (n=622) and National Heart Centre Singapore (n=211). Participants underwent conventional CMR at 1.5 T. Using cardiac atlas and machine learning techniques, CMRs were segmented and co-registered providing statistical models of phenotypic variation. Subjects were …