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Hypertrophic cardiomyopathy (HCM) is a genetically mediated myocardial disease predominantly caused by pathogenic mutations in sarcomeric protein genes and characterized by asymmetric left ventricular hypertrophy. Patients with HCM commonly present with dyspnea, chest pain, and exercise intolerance. Sudden cardiac death, progressive heart failure, and thromboembolic events remain the leading causes of mortality and morbidity, substantially impairing quality of life and increasing healthcare burden.
Despite advances in understanding the pathophysiology, diagnosis, and management of HCM, significant challenges persist, including etiological heterogeneity and underdiagnosis. At present, dedicated and systematic HCM databases remain lacking in China. Establishing a nationally HCM cohort and disease-specific database is therefore of considerable importance. In alignment with the goals of the "Healthy China 2030" initiative and supported by advances in medical big data technologies.
This study aims to construct a comprehensive HCM cohort, evaluate contemporary diagnostic and therapeutic practices and patient prognosis, identify relevant risk factors, and ultimately improve the overall management of patients with HCM.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Hypertrophic cardiomyopathy | Patients who meet the clinical diagnostic criteria for hypertrophic cardiomyopathy. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Standard of care | Drug | Standard of care |
|
| Measure | Description | Time Frame |
|---|---|---|
| MACE | The primary outcome was major adverse cardiovascular events (MACE), defined as a composite of cardiac death, ischemic stroke, systemic embolism, malignant arrhythmia events, non-fatal myocardial infarction, and rehospitalization for heart failure. | 1, 6, 12, 24, 36, 60 months |
| Measure | Description | Time Frame |
|---|---|---|
| Cardiac death | Incidence of individual components of MACE. | 1, 6, 12, 24, 36, 60 months |
| Ischemic stroke | Incidence of individual components of MACE. |
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Inclusion Criteria:
Meet the clinical diagnostic criteria for HCM*;
Patients who understand the purpose of this study, voluntarily participate in the trial and sign the informed consent form, have good compliance, and are willing to undergo clinical follow-up.
Exclusion Criteria:
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An expected enrollment of 3,000 HCM patients will be enrolled within the next 2 years.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lanyan Guo, MD, Ph.D | Contact | +86-18189145929 | guolany@163.com | |
| Running Zhang, BSc | Contact | +86-15802990370 | running-zhang@qq.com |
| Name | Affiliation | Role |
|---|---|---|
| Ling Tao, MD, Ph.D | Xijing Hospital | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| the First Affiliated Hospital of the Air Force Medical University | Xi'an | China/Shaan XI Province | China |
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| ID | Term |
|---|---|
| D002312 | Cardiomyopathy, Hypertrophic |
| ID | Term |
|---|---|
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D001020 | Aortic Stenosis, Subvalvular |
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| ID | Term |
|---|---|
| D059039 | Standard of Care |
| ID | Term |
|---|---|
| D019984 | Quality Indicators, Health Care |
| D011787 | Quality of Health Care |
| D006298 | Health Services Administration |
| D017530 | Health Care Quality, Access, and Evaluation |
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Peripheral venous blood samples will be collected at prespecified study time points. Whole blood will be processed to obtain plasma, serum, and buffy coat fractions. The buffy coat will be retained for genomic DNA extraction. Extracted DNA and residual plasma/serum samples will be stored in coded form for future analyses related to HCM mechanisms, biomarkers, and treatment response.
| 1, 6, 12, 24, 36, 60 months |
| Systemic embolism | Incidence of individual components of MACE. | 1, 6, 12, 24, 36, 60 months |
| Malignant arrhythmia events | Incidence of individual components of MACE. | 1, 6, 12, 24, 36, 60 months |
| Non-fatal myocardial infarction | Incidence of individual components of MACE. | 1, 6, 12, 24, 36, 60 months |
| Rehospitalization for heart failure. | Incidence of individual components of MACE. | 1, 6, 12, 24, 36, 60 months |
| All-cause mortality | Incidence of all-cause mortality. | 1, 6, 12, 24, 36, 60 months |
| Number of rehospitalizations for heart failure | Total number of rehospitalizations for heart failure during follow-up. | 1, 6, 12, 24, 36, 60 months |
| New-onset atrial arrhythmias | Incidence of new-onset atrial arrhythmias, including atrial tachycardia, atrial flutter, and atrial fibrillation. | 1, 6, 12, 24, 36, 60 months |
| End-stage heart failure | Incidence of end-stage heart failure. | 1, 6, 12, 24, 36, 60 months |
| Heart transplantation | Incidence of heart transplantation. | 1, 6, 12, 24, 36, 60 months |
| Non-obstructive hypertrophic cardiomyopathy progressing to obstructive hypertrophic cardiomyopathy | Incidence of non-obstructive hypertrophic cardiomyopathy progressing to obstructive hypertrophic cardiomyopathy. | 1, 6, 12, 24, 36, 60 months |
| Anxiety/depressive mental disorders | Incidence of anxiety/depressive mental disorders. | 1, 6, 12, 24, 36, 60 months |
| The Kansas City Cardiomyopathy Questionnaire (KCCQ) ≥5-point improvement | Proportion of patients achieving a ≥5-point improvement in KCCQ score from baseline after treatment. The KCCQ Overall Summary Score ranges from 0 to 100, with higher scores indicating better health status.A ≥5-point increase is considered a clinically meaningful improvement. | 1, 6, 12, 24, 36, 60 months |
| BARC 3 or 5 bleeding | Incidence of BARC 3 or 5 bleeding. | [1, 6, 12, 24, 36, 60 months] |
| D001024 |
| Aortic Valve Stenosis |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |