Assessing heart function and blood flow in different stages of hypertrophic cardiomyopathy
Assessment of Myocardial Function, (Peripheral) Endothelial Function and Perfusion in Early and Advanced Disease Stages of Hypertrophic Cardiomyopathy
This study is testing how heart function and blood flow change in people with hypertrophic cardiomyopathy at different stages of the disease, especially those with certain genetic mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years to 70 Years |
| Sex | All |
| Sponsor | Amsterdam UMC, location VUmc Academic / other |
| Locations | 1 site (Amsterdam, North Holland) |
| Trial ID | NCT06400524 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate cardiac function, microvascular function, and myocardial perfusion in patients with hypertrophic cardiomyopathy (HCM) across various disease stages. It focuses on individuals with specific genetic mutations (MYBPC3 and MYH7) and evaluates changes in heart structure and function using echocardiography and MRI. The study categorizes participants based on their maximum wall thickness to understand the relationship between genetic mutations and disease progression. Insights gained may help clarify the underlying mechanisms of HCM and its impact on heart health.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and older who are carriers of MYBPC3 or MYH7 mutations, or genotype-negative first-degree relatives of these carriers.
Not a fit: Patients over 70 years old, those with insulin-dependent diabetes, or individuals with significant hypertension may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of hypertrophic cardiomyopathy and lead to improved management strategies for patients.
How similar studies have performed: While the specific approach of this study is novel, previous studies have explored aspects of cardiac function in HCM, indicating potential for meaningful insights.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Amsterdam, North Holland
- Amsterdam UMC - location VUmc — Amsterdam, North Holland, Netherlands (Recruiting)
Study contacts
- Study coordinator: Julia E Visch, MD
- Email: j.visch@amsterdamumc.nl
- Phone: +31629349699
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.