Assessment of Myocardial Function, (Peripheral) Endothelial Function and Perfusion in Early and Advanced Disease Stages of Hypertrophic Cardiomyopathy
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.
⁃ One of below:
• MYBPC3 mutation carrier
• MYH7 mutation carrier
• Genotype-negative first degree relative of a MYBPC3 or MYH7 mutation carrier
⁃ All of the following criteria:
• For the mutation carrier group: ≥18 years old
• For the genotype-negative group: ≥30 years old
⁃ MYBPC3 and MYH7 mutation carriers will be designated to one of three groups based on their maximum wall thickness, measured by echocardiography and MRI:
• No phenotype: MWT \<12mm
• Mild Phenotype: MWT ≥12 until \<15mm
• HCM phenotype: MWT ≥15mm