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.
Study Type
OBSERVATIONAL
Enrollment
100
Amsterdam UMC - location VUmc
Amsterdam, North Holland, Netherlands
RECRUITINGmyocardial blood flow
assessed by PET and CMR
Time frame: 1 month
peripheral endothelial function
assessed by EndoPAT and LASCA
Time frame: 1 month
Tissue characterization
assessed by CMR
Time frame: 1 month
Diastolic dysfunction
assessed by echocardiography
Time frame: 1 month
Fibrosis
assessed by CMR
Time frame: 1 month
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