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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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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
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.
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Luigi Lovato | Contact | +390512144740 | luigi.lovato@aosp.bo.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Azienda Ospedaliero-Universitaria di Bologna | Recruiting | Bologna | BO | 40124 | Italy |
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| ID | Term |
|---|---|
| D002312 | Cardiomyopathy, Hypertrophic |
| D000795 | Fabry Disease |
| D028227 | Amyloid Neuropathies, Familial |
| ID | Term |
|---|---|
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D001020 | Aortic Stenosis, Subvalvular |
| D001024 | Aortic Valve Stenosis |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D017772 | Amyloid Neuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D028226 | Amyloidosis, Familial |
| D000686 | Amyloidosis |
| D057165 | Proteostasis Deficiencies |
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