Genotype positive hypertrophic cardiomyopathy is associated with myocardial perfusion abnormalities

Background Hypertrophic cardiomyopathy (HCM) is a highly heterogenous disease both genotypically and phenotypically. Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) for fibrosis detection and adenosine stress perfusion are key techniques for HCM phenotyping. Recent advances in DNA sequencing, in particular high throughput next generation sequencing (NGS), have enabled more extensive genetic analysis of larger cohorts of patients. We sought to assess the link between genotype and the microvascular circulation in a cohort of patients with HCM.