Outcome of Different Pathogenic Mutations in Hypertrophic Cardiomyopathy

Study Overview
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Brief Summary
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This is a prospective, single-center study to assess clinical phenotype and prognosis of different pathogenic mutations in Chinese patients with hypertrophic cardiomyopathy. Patients with hypertrophic cardiomyopathy were consecutively recruited, and then DNA samples were extracted from peripheral blood. Targeted sequencing of 142 genes was performed to obtain variants associated with hypertrophic cardiomyopathy. Patients will undergo face-to-face interviews, phone calls, or/and chart reviews at 6 months, 12 months, 24 months, 36 months, 48 months and 60 months for data collection of clinical outcomes.

Official Title
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The Clinical Outcome and Prognosis of Patients With Different Pathogenic Mutations of Hypertrophic Cardiomyopathy

Conditions
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Hypertrophic Cardiomyopathy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 1. Adults: a wall thickness ≥15 mm in one or more LV myocardial segments-as measured by any imaging technique (echocardiography, cardiac magnetic resonance imaging (CMR) or computed tomography (CT))-that is not explained solely by loading conditions; 2. Children: an LV wall thickness more than two standard deviations greater than the predicted mean (z-scored>2, where a z-score is defined as the number of standard deviations from the population mean); 3. Relatives: the first-degree relatives of patients with unequivocal disease (LVH ≥15 mm) is based on the presence of otherwise unexplained increased LV wall thickness ≥13 mm in one or more LV myocardial segments, as measured using any cardiac imaging technique [echocardiography, cardiac magnetic resonance (CMR) or CT]. Exclusion Criteria: 1. Patients with severe valvular disease, aortic stenosis, congenital heart disease, hypertensive heart disease, diabetic cardiomyopathy, or other cardiovascular or systemic diseases that may cause ventricular hypertrophy; 2. Patients who had participated in any clinical trial during the first 3 months; 3. Previous history of cancer or tumor, or pathological examination confirmed precancerous lesions (such as breast ductal carcinoma in situ, or atypical hyperplasia of the cervix); 4. Patients refused to comply with the requirements of this study to complete the research work.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| mutation<br>patients carrying one or more specific pathogenic mutations | |
| control<br>patients not carrying the pathogenic mutation(s) | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Cardiovascular mortality | Death from cardiovascular disease which includes coronary artery diseases, stroke, heart failure, hypertensive heart disease, rheumatic heart disease, cardiomyopathy, heart arrhythmia, congenital heart disease, valvular heart disease, carditis, aortic aneurysms, peripheral artery disease, thromboembolic disease, and venous thrombosis | up to 60 months | 
| Rate of heart transplantation | Heart transplantation is a surgical transplant procedure performed on patients with end-stage heart failure or severe coronary artery disease when other medical or surgical treatments have failed | up to 60 months | 
| Rate of nonfatal stroke |  | up to 60 months | 
| Rate of nonfatal myocardial infarction |  | up to 60 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| All-cause mortality |  | up to 60 months | 
| Readmission rate for cardiovascular diseases |  | up to 60 months | 
| Recurrence rate of heart failure |  | up to 60 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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pathogenic mutations, clinical phenotype, prognosis