Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes

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.

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, BO, 40124, Italy

Location status: Recruiting

Location contact

Luigi Lovato

CONTACT

+390512144740

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

Quantitative Perfusion Defects

Time frame: Baseline and after 36 months

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

Time frame: Baseline and after 36 months

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

Study contacts

Contact information is provided by the study sponsor or research team.

Luigi Lovato

CONTACT

[email protected]

+390512144740

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Acronym: MyoPerf-HCM

Important dates

Study start: 2025
Primary completion: 2027
Study completion: 2027
First posted: Feb 2, 2026
Registry last updated: Feb 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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