Outcome of Different Pathogenic Mutations in Hypertrophic Cardiomyopathy

Tongji Hospital

Status: Unknown

Conditions: Hypertrophic Cardiomyopathy

Study type: Observational

Funder types: Other

Identifiers

NCT03726424

PPOHPM

Details and patient eligibility

About

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.

Enrollment: 1,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

1,000 participants in 2 patient groups

mutation

Description:

patients carrying one or more specific pathogenic mutations

control

Description:

patients not carrying the pathogenic mutation(s)