The Chinese Hypertrophic Cardiomyopathy Study(CHCS)

Study Overview
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Brief Summary
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Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiac diseases, with a prevalence of ∼0.2%. Sudden cardiac death (SCD), heart failure and stroke are the major poor outcomes of HCM. Although about half of the patients were found to be caused by mutations mainly located in genes encoding sarcomere proteins, the causes in a significant proportion of patients with HCM are still unknown. Even in the patients with sarcomere mutations, the molecular pathways that eventually lead to cardiac hypertrophy are remained to be revealed. Furthermore, HCM presents with significant heterogeneity. SCD risk stratification and prevention by ICD are necessary. However, the strategy of SCD risk stratification recommended by the 2011 ACCF/AHA and 2014 ESC guidelines were based mainly on the evidence derived from American and European countries. The accuracy of these guidelines in Chines patients with HCM was not evaluated yet.

Detailed Description
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In the present study, patients with HCM are recruited prospectively after informed consent was given. The investigator will collect the baseline clinical characteristics of the patients at enrollment, including comprehensive physical examination, laboratory testing of blood and urine, electrocardiography, 24-hr Holter, echocardiography, MRI and other examinations if necessary. The specimens retained include blood for all patients and myocardium for patients receive surgery of myocardial myectomy. Multi-omics screening, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, will be performed to identified novel disease genes, signal pathway or processes, genetic risk factors and potential therapy targets of HCM. Furthermore, besides examining the accuracy of SCD risk prediction of the 2011 ACCF/AHA and 2014 ESC guidelines, we will identify novel risk factors associated with the clinical outcomes and construct predictive models suitable for Chinese patients with HCM.

Official Title
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The Chinese Hypertrophic Cardiomyopathy Study(CHCS)

Conditions
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Cardiomyopathy, Hypertrophic

Participation Criteria
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Eligibility Criteria
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Inclusion criteria: Patients with HCM diagnosed by observation of unexplained maximal left ventricle wall thickness ≥15 mm on echocardiography and/or cardiac magnetic resonance imaging or or ≥13 mm for individuals with family history of HCM. Exclusion criteria: Individuals with other cardiac or systemic diseases capable of producing that magnitude of cardiac hypertrophy.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Hypertrophic cardiomyopathy<br>Individuals with an unexplained maximal left ventricle wall thickness ≥15 mm on echocardiography and/or cardiac magnetic resonance imaging or or ≥13 mm for individuals with family history of HCM, in the absence of other cardiac or systemic diseases capable of producing that magnitude of cardiac hypertrophy. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Cardiovascular deaths | Including SCD and deaths due to heart failure and stroke. | an average of 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| all-cause mortality | deaths due to all causes. | an average of 2 years. | 
| Heart failure | Progress to level III or IV in New York Heart Association class. | an average of 2 years | 
| Stroke | including cerebral infarction and hemorrhage | an average of 2 years | 
| Malignant arrhythmia | The incidence rate of malignant arrhythmia | an average of 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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hypertrophic cardiomyopathy, clinical outcomes, multi-omics, risk stratification