Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes (MyoPerf-HCM)

Scientific Institute for Research Hospitalization and Healthcare (IRCCS)

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT07382128

MyoPerf-HCM

Details and patient eligibility

About

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.

Enrollment: 250 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.