Cardiac MRI blood-flow imaging to distinguish types of hypertrophic cardiomyopathy
Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes
We will try cardiac MRI perfusion imaging to see if blood-flow patterns can distinguish people with different forms of hypertrophic cardiomyopathy, including genetic carriers and related conditions like Fabry disease and cardiac amyloidosis.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 1 site (Bologna, BO) |
| Trial ID | NCT07382128 on ClinicalTrials.gov |
What this trial studies
This observational study uses quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging to characterize myocardial blood flow in adults with hypertrophic cardiomyopathy phenotypes, including sarcomeric and non-sarcomeric HCM, Anderson-Fabry disease, and cardiac amyloidosis. The cohort includes affected patients, their first-degree relatives, and known genetic mutation carriers who undergo CMR per ESC guidelines. Investigators will compare regional myocardial blood flow and perfusion patterns across groups to identify distinctive perfusion signatures and explore links between ischemia, fibrosis, arrhythmias, and long-term outcomes. Results are intended to improve diagnostic differentiation and inform risk stratification.
Who should consider this trial
Good fit: Adults (≥18) with a confirmed hypertrophic cardiomyopathy phenotype, first-degree relatives of affected patients, or carriers of HCM-related genetic mutations who have an indication for CMR per ESC guidelines and can provide informed consent.
Not a fit: Patients with prior myocardial infarction, prior coronary revascularization, or known coronary stenosis ≥50%, those unable to undergo CMR, and minors are unlikely to benefit from this protocol.
Why it matters
Potential benefit: If successful, this approach could help clinicians better distinguish HCM subtypes, improve risk stratification, and clarify how ischemia contributes to fibrosis and arrhythmias.
How similar studies have performed: Prior CMR perfusion studies have shown microvascular ischemia in HCM and cardiac amyloidosis, but comprehensive quantitative cross-phenotype comparisons like this are relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * A confirmed diagnosis of cardiomyopathy with a hypertrophic phenotype, according to current ESC guidelines; or a first-degree relative of a patient with a confirmed diagnosis of cardiomyopathy with a hypertrophic phenotype; or a carrier of a genetic mutation for hypertrophic cardiomyopathy (carriers). * Patient with an indication to undergo cardiac magnetic resonance imaging (CMR) according to current ESC guidelines. * Age ≥ 18 years * Written informed consent obtained Exclusion Criteria: \- History of previous myocardial infarction or myocardial revascularization (coronary artery bypass grafting or percutaneous coronary angioplasty) and/or evidence of coronary stenosis ≥ 50% on coronary CT scan or invasive coronary angiography.
Where this trial is running
Bologna, BO
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Bo, Italy (Recruiting)
Study contacts
- Study coordinator: Luigi Lovato
- Email: luigi.lovato@aosp.bo.it
- Phone: +390512144740
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.