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.
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
None
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.
Cohort
Other
Not listed
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.
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.
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