Assessment of Cardiac Function, Microvascular Function and Cardiac Perfusion in Different Disease Stages of Hypertrophic Cardiomyopathy

myocardial blood flow,peripheral endothelial function

Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by asymmetric
 hypertrophy of the heart in absence of loading conditions like hypertension. The genetic
 mutation underlying HCM sets in motion a cascade of functional and metabolic changes
 ultimately leading to disease. HCM patients often have microvascular dysfunction and
 myocardial perfusion deficits, of which the aetiology has not been elucidated. Whether these
 changes are secondary to remodelling or primarily caused by endothelial dysfunction is
 unclear. As the pathomechanism of HCM is thought to be a cascade of changes, it is important
 to gain more insight in the perfusion and endothelial function changes throughout different
 stages of disease: no phenotype, mild phenotype, and advanced HCM phenotype. In this study we
 aim to investigate these changes in the two most common genetic mutations.