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

Launched by AMSTERDAM UMC, LOCATION VUMC · May 3, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a heart condition called hypertrophic cardiomyopathy (HCM), which is a genetic disorder that causes the heart muscle to thicken. The researchers want to understand how HCM affects heart function and blood flow at different stages of the disease. They will look at patients with specific genetic mutations related to HCM and assess how their heart's structure and function change, particularly focusing on those with no symptoms, mild symptoms, and more severe forms of the condition.

To participate in the trial, individuals need to be at least 18 years old if they carry the genetic mutations (called MYBPC3 or MYH7) or at least 30 years old if they are related to someone with these mutations but don’t carry them themselves. Participants will undergo tests that measure the thickness of their heart walls and how well their heart is functioning. It’s important to know that there are specific health conditions that would prevent someone from joining the study, such as being over 70 years old, having certain heart problems, or taking certain medications. Overall, this trial aims to provide better insights into how HCM progresses, which could help in developing better treatments for those affected.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• 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
• Exclusion Criteria:
• • ≥70 years old
• • Insulin-dependent diabetes mellitus
• • Pregnancy
• • Smoking
• • Claustrophobia
• • Pacemaker/ICD
• • Renal insufficiency \<30 GFR
• • Hypertension (systolic \>140mmHg or diastolic \>90mmHg)
• • For the genotype negative group, no phenotype group, and mild phenotype group: the use of blood pressure medication (diuretics, beta-blockers, ACE-inhibitors, angiotensin II receptor blockers, calcium channel blockers, alpha blockers)
• • For the HCM phenotype group: when it is unsafe to withhold from blood pressure medication (as specified above) for two days, as assessed by their own cardiologist
• • Left ventricular outflow tract gradient \> 50mmHg
• • Aortic valve disease
• • Left bundle branch block
• • (History of) Obstructive coronary artery disease
• • Chronic atrial fibrillation
• • Hormone replacement therapy
• • Second or third-degree AV-block, sick-sinussyndrome, prolonged QT-interval
• • Asthma and other obstructive pulmonary diseases
• • Previous adverse reaction to adenosine or dotarem