hypertrophic cardiomyopathy - thickened heart muscle Thickened heart muscle
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Affected HCM patients (genotype positive and phenotype positive) MYBPC3 class 4/5 variant carrier Fulfillment of the criteria for hypertrophic cardiomyopathy (HCM) according to international guidelines18 years old or older Able to provide written informed consent Unaffected HCM mutation carriers (genotype positve and phenotype negative): MYBPC3 class 4/5 variants carrier Non fulfillment of the criteria for HCM according to international guidelines18 years old or older Able to provide written informed consent Healthy controls: No prior history of cardiac complaintsNormal echocardiogram and ECG 18 years old or older Able to provide written informed consent
Exclusion criteria
Exclusion criteria: Severe claustrophobia Contra-indications for 7T MRI, including: non MRI-compatible cardiac implantable electrical devices, cochlear implant or neurostimulator, non MRI-compatible metallic implants/fragments in eyes, spine, thorax or abdomen, non MRI-compatible brain aneurysm clip Obesity, defined as a body mass index (BMI) > 30 Known history of diabetes History of cardiac disease other than HCM Medical disorders affecting mitochondrial function; e.g., spinal muscular atrophy and other muscular dystrophies Known scar (defined as presence of late gadolinium enhancement at conventional MRI) with localization in the interventricular septum Any circumstances that would impede adherence to study requirements or ability to give informed consent Pregnancy Current treatment with sodium-glucose cotransporter 2 inhibitors
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Cardiac muscle energy status assessed by the PCr/ATP ratio at 31P MRS imaging at 7 Tesla. | — |
Secondary
| Measure | Time frame |
|---|---|
| Imaging parameters that serve as indices of disease severity on MRI: - LV mass (g/m2) - LV maximal wall thickness (mm) - LV end-diastolic and end=systolic volumes (ml/m2) - LV EF (%) - amount of LGE (%)Imaging parameters that serve as indices of disease severity on echocardiography: - LV global longitudinal strain (GLS, %) - LV diastolic function (expressed as normal or grade I, II or III dysfunction) - hemodynamic gradient (mmHg) - Left atrial (LA) diameterElectrocardiographic parameters that serve as indices of disease severity on ECG-Holter monitoring: - number and duration of ventricular tachycardias - premature ventricular contractions (PVC) countBlood biomarkers that serve as indices of disease severity: - NT-proBNP (pg/mL) - Troponin I (ng/L) | — |
Countries
Netherlands
Contacts
Public ContactA.S.J.M. Riele
Universitair Medisch Centrum Utrecht
Outcome results
None listed