Role of Cardiovascular Imaging in the Early Diagnosis of Hypertrophic Cardiomyopathy in Women

Launched by IRCCS SAN RAFFAELE · Mar 12, 2025

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Eligibility criteria

• Inclusion Criteria:
• • 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 Criteria:
• • 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.