Status:
ACTIVE_NOT_RECRUITING
Role of Cardiovascular Imaging in the Early Diagnosis of Hypertrophic Cardiomyopathy in Women
Lead Sponsor:
IRCCS San Raffaele
Collaborating Sponsors:
Azienda Sanitaria Universitaria Giuliano Isontina [ASUGI], Università di Trieste, Italy
Conditions:
Hypertrophic Cardiomyopathy (HCM)
Eligibility:
All Genders
Brief Summary
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disorder worldwide with a prevalence of 1:500 in the general population. It is mainly associated to mutations in genes encoding car...
Eligibility Criteria
Inclusion
- Able to sign informed consent.
- First-degree relatives of HCM patients already in follow-up at the participating centres, independently from the genetic status of the affected family member.
- Unselected subjects referred to the Cardiomyopathy Outpatient Clinics with clinical suspicion of HCM.
- Availability to perform transthoracic echocardiographic imaging, and to perform CMR.
Exclusion
- Known history of systemic hypertension with documented secondary LV heart disease.
- Known grown up congenital heart disease patients with documented secondary LV hypertrophy.
- Known hemodynamically relevant valvular diseases with documented secondary LV hypertrophy.
- Known HCM phenocopies: infiltrative diseases mimicking HCM (cardiac amyloidosis, haemochromatosis and secondary hemosiderosis), metabolic storage diseases (Anderson-Fabry disease, Pompe disease, Danon disease, PRKAG2-related disease).
- Neuromuscular diseases as Friedreich ataxia, distrophinopathies and desminopathies.
- Known mitochondrial diseases with documented myocardial involvement.
- Known malformation syndromes as RAS/MAPK disorders (Noonan syndrome, LEOPARD syndrome, Costello syndrome), cardiofaciocutaneous syndrome.
- Previous long-term treatment with tacrolimus, hydroxychloroquine, steroids.
- Known absolute contraindications to CMR.
Key Trial Info
Start Date :
March 1 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 1 2030
Estimated Enrollment :
80 Patients enrolled
Trial Details
Trial ID
NCT06882668
Start Date
March 1 2025
End Date
March 1 2030
Last Update
March 18 2025
Active Locations (1)
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1
Vita Salute San Raffaele Hospital
Milan, Italy, 20054