Hypertrophic Cardiomyopathy (HCM)
Conditions
Keywords
hypertrophic cardiomyopathy
Brief summary
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart condition, affecting approximately 1 in 500 people. It causes the heart muscle to thicken, which can lead to blockages in blood flow (left ventricular outflow tract obstruction), shortness of breath, and an increased risk of heart failure or sudden cardiac arrest. While standard treatments exist and new targeted medications (cardiac myosin inhibitors) have recently been approved, doctors still need better data to predict which treatments will work best for each individual patient. This national registry based in the UK is a secure database that collects health information from HCM patients across multiple NHS hospital sites in the UK over several years. Participants in this study will have their routine health information collected from their medical records, including details from heart scans (echocardiograms and MRIs), blood tests, and genetic information. With this HCM registry, we aim to improve disease understanding and risk prediction, paving the way for more personalised treatment plans for the HCM community in the future
Detailed description
Study Overview: The National Hypertrophic Cardiomyopathy (HCM) Registry is a prospective, multicentre, observational registry designed to characterize contemporary UK clinical practice and provide longitudinal, granular phenotyping of patients with HCM. The study aims to recruit approximately 2,500 participants across multiple NHS hospitals over a 5-year enrollment period. Primary Objectives: Describe the natural history and treatment response of HCM across UK centers, including the utilisation and outcomes of medical therapies, including cardiac myosin inhibitors (CMIs). Secondary Objectives: Determine the incidence and predictors of clinically significant arrhythmias. Define genotype-phenotype correlations. Correlate serum biomarkers (e.g., NT-proBNP, high-sensitivity cardiac troponin) and multimodality imaging metrics (echocardiographic strain, CMR-derived scar burden) with clinical outcomes. Study Population and Procedures: Eligible participants include adults (above the age of 18 years old) with a definite clinical diagnosis of HCM, not explained by abnormal loading conditions. Data collection occurs during routine clinical visits with collected variables including demographics, comorbidities, medications, 12-lead ECG, biomarkers, echocardiography, CMR parameters, and device status (if available). All clinical care remains at the discretion of the treating physician. Data Management: Participants are pseudonymized with a unique study ID and entered into a secure database.
Interventions
None listed
Sponsors
University of Manchester
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
* Confirmed diagnosis of Hypertrophic Cardiomyopathy (HCM) clinically and not solely explained by abnormal loading conditions (e.g., significant hypertension, valvular disease
Exclusion criteria
* Participants who do not fulfil the imaging and clinical diagnostic criteria of HCM
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Key Efficacy Parameters (LVOT Gradient) | 3-5 years | Change in left ventricular outflow tract (LVOT) gradient (measured echocardiographically in mmHg) at both resting and stress condition in obstructive cases in response to treatment |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of Clinically Significant Arrhythmias | 5 years | Incidence rates of new-onset or recurrent atrial fibrillation (AF)/atrial flutter (AFL) and sustained/non-sustained ventricular tachycardia (VT/NSVT) episodes. |
| Correlation of Genotype and Imaging with Clinical Outcomes | 5 years | Correlation analysis to define genotype-phenotype relationships, and the relationship between imaging-derived parameters such as scar burden (Late Gadolinium Enhancement, LGE) and clinical outcomes. |
| Change in Serum Biomarker | 3-5 years | Response in cardiac biomarker profile (nT-proBNP measured in ng/L and serum troponin measured in ng/L) in response to treatment |
Countries
United Kingdom
Outcome results
None listed