Outcome of Different Pathogenic Mutations in Hypertrophic Cardiomyopathy
Outcome of Different Pathogenic Mutations in 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.
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.