Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes

NCT07382128 | Recruiting

• 1 other identifier: MyoPerf-HCM
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief Summary

This observational study aims to evaluate myocardial perfusion abnormalities using quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging in patients with hypertrophic cardiomyopathy (HCM) phenotypes, including sarcomeric and non-sarcomeric HCM, Anderson-Fabry disease (AFD), and cardiac amyloidosis. The study will also include first-degree relatives of affected patients and genetic mutation carriers. By comparing myocardial blood flow and perfusion patterns across these different conditions, the study seeks to identify distinctive perfusion signatures that may improve diagnostic differentiation, support risk stratification, and provide insights into the role of ischemia in fibrosis progression, arrhythmias, and long-term outcomes.

Conditions

HCM - Hypertrophic Cardiomyopathy; Anderson Fabry Disease; Cardiac Magnetic Resonance Imaging; Amyloid Cardiomyopathy

Outcome Measures

Primary Outcomes (2)

• Quantitative Perfusion Defects

  To evaluate differences in quantitative myocardial perfusion among different hypertrophic cardiomyopathy phenotypes, aiming to identify specific and distinctive perfusion abnormality patterns for each condition.

  Baseline and after 36 months

• Qualitative Perfusion Defects

  To evaluate differences in qualitative myocardial perfusion among different hypertrophic cardiomyopathy phenotypes, aiming to identify specific and distinctive perfusion abnormality patterns for each condition.

  Baseline and after 36 months

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients will participate in the study, including those with a confirmed diagnosis of hypertrophic-phenotype cardiomyopathies (sarcomeric and non-sarcomeric HCM, Anderson-Fabry disease, amyloidosis), first-degree relatives of patients with a confirmed diagnosis of hypertrophic-phenotype cardiomyopathy, and carriers of genetic mutations associated with hypertrophic cardiomyopathy.

You may qualify if:

• 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

You may not qualify if:

• \- 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.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, BO, 40124, Italy

RECRUITING

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic; Fabry Disease; Amyloid Neuropathies, Familial

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Amyloid Neuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Amyloidosis, Familial; Amyloidosis; Proteostasis Deficiencies

Central Study Contacts

Luigi Lovato

CONTACT

+390512144740; luigi.lovato@aosp.bo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2026
• First Posted: February 2, 2026
• Study Start: June 1, 2025
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: February 2, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)