Outcome of Different Pathogenic Mutations in Hypertrophic Cardiomyopathy

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

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.

Study Overview

• Status: Unknown
• Conditions: Hypertrophic Cardiomyopathy

• Study Type: Observational
• Enrollment (Anticipated): 1000

Contacts and Locations

Study Locations

• China
  • Hubei
    • Wuhan, Hubei, China, 430030
      • Recruiting
      • Tongji Hospital
      • Contact: Jia Qi Dai, MD candidate; Phone Number: 86-27-83663280; Email: d201781397@hust.edu.cn

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with hypertrophic cardiomyopathy

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
mutation; patients carrying one or more specific pathogenic mutations
control; patients not carrying the pathogenic mutation(s)

What is the study measuring?

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	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

Collaborators and Investigators

• Sponsor: Tongji Hospital
• Investigators: Study Chair: Dao Wen Wang, Doctor, Tongji Hospital,Wuhan, Hubei, China, 430030

Study record dates

Study Major Dates

• Study Start (Actual): February 25, 2011
• Primary Completion (Anticipated): December 31, 2019
• Study Completion (Anticipated): December 31, 2019

Study Registration Dates

• First Submitted: October 30, 2018
• First Submitted That Met QC Criteria: October 30, 2018
• First Posted (Actual): October 31, 2018

Study Record Updates

• Last Update Posted (Actual): November 5, 2018
• Last Update Submitted That Met QC Criteria: November 1, 2018
• Last Verified: November 1, 2018

More Information

Terms related to this study

• Keywords: prognosis; clinical phenotype; pathogenic mutations
• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Pathological Conditions, Anatomical; Aortic Valve Disease; Heart Valve Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Hypertrophy; Cardiomyopathies; Cardiomyopathy, Hypertrophic
• Other Study ID Numbers: PPOHPM

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No