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

Launched by IRCCS SAN RAFFAELE · Mar 12, 2025

Keywords

ClinConnect Summary

This clinical trial is exploring how certain imaging techniques can help diagnose Hypertrophic Cardiomyopathy (HCM) in women earlier and more accurately. HCM is a heart condition that can cause the heart muscle to thicken, which can lead to serious complications if not identified in time. The trial is particularly interested in a measurement called wall thickness standard deviation (WTSD) to see if it can better detect HCM in women compared to traditional methods. Researchers will collect data from patients suspected of having HCM and their family members, using various tests including electrocardiograms, echocardiograms, and cardiac MRI scans.

To participate in the trial, individuals must be able to give informed consent and either have a suspicion of HCM or be a first-degree relative of someone with HCM. Participants will undergo several tests at the start and have follow-up evaluations after six months. The goal is to gather important information that could lead to better and earlier diagnosis of HCM, especially in women, as they are often diagnosed later than men. It's a significant step towards improving care for those at risk of this heart condition.

Gender

ALL

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.