Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic Cardiomyopathy

This study has been completed.
Information provided by (Responsible Party):
Yonsei University Identifier:
First received: February 7, 2013
Last updated: February 17, 2014
Last verified: February 2014
Set the Korean Familial Hypertrophic Cardiomyopathy (KFHC) registry to study the prevalence of gene mutations in Korean patients with familial hypertrophic cardiomyopathy

Familial Hypertrophic Cardiomyopathy

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years

Resource links provided by NLM:

Further study details as provided by Yonsei University:

Primary Outcome Measures:
  • 1) DNA analysis [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    1) Identify susceptible genes for familial hypertrophic cardiomyopathy in Korean

Secondary Outcome Measures:
  • 2) Prognosis of familial hypertrophic cariomyopathy [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    2) all-cause mortality, hospitalization for heart failure progression, stroke, heart transplantation

Biospecimen Retention:   Samples With DNA
serum, whole blood, DNA

Enrollment: 99
Study Start Date: February 2013
Study Completion Date: August 2013
Primary Completion Date: August 2013 (Final data collection date for primary outcome measure)
familial hypertrophic cardiomyopathy
familial hypertrophic cardiomyopathy patients and their relatives


Ages Eligible for Study:   13 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
familial hypertrophic cardiomyopathy patients and their relatives

Inclusion Criteria:

  1. left ventricular maximal wall thickness ≥ 15mm on echocardiography
  2. hypertrophic cardiomyopathy patients' relatives

Exclusion Criteria:

  1. other cardiomyopathy or systemic disease (e.g. fabry disease, danon disease, glycogen storage disease)
  2. who deny the study entrance, especially in patients' relatives
  Contacts and Locations
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Please refer to this study by its identifier: NCT01792960

Korea, Republic of
Division of Cardiology, Severance Cardiovascular Hospital, Yonsei University College of Medicine
Seoul, Korea, Republic of, 120-752
Sponsors and Collaborators
Yonsei University
  More Information

Responsible Party: Yonsei University Identifier: NCT01792960     History of Changes
Other Study ID Numbers: 4-2012-0869 
Study First Received: February 7, 2013
Last Updated: February 17, 2014
Health Authority: Korea: Institutional Review Board

Additional relevant MeSH terms:
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Hypertrophic, Familial
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Cardiovascular Diseases
Genetic Diseases, Inborn
Heart Diseases
Heart Valve Diseases
Pathological Conditions, Anatomical processed this record on May 23, 2016