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Family Studies of Inherited Heart Disease

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00001225
First Posted: November 4, 1999
Last Update Posted: March 4, 2008
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
National Institutes of Health Clinical Center (CC)
  Purpose

Hypertrophic cardiomyopathy (HCM) is a genetically inherited heart disease. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young people.

A genetic test called linkage analysis is used to locate genes causing inherited diseases like HCM. Linkage analysis requires large families to be evaluated clinically in order to identify the members with and without the disease.

In this study researchers will collect samples of DNA from family members of patients with HCM. The diagnosis of the disease will be made by history and physical examination, electrocardiogram (12 lead ECG), and ultrasound of the heart (2-D echocardiogram). The ability of the researchers to locate the gene responsible for the disease improves with increases in the size of the family and members evaluated.

In order to continue research on the genetic causes of heart disease, researchers intend on studying families with specific genetic mutations (beta-MHC) causing HCM. Researcher plan to also study families with HCM not linked to specific gene mutations (beta-MHC).


Condition
Hypertrophic Cardiomyopathy

Study Type: Observational
Official Title: Family Studies of Hypertrophic Cardiomyopathy

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 5880
Study Start Date: April 1987
Estimated Study Completion Date: August 2002
Detailed Description:
Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young individuals but its clinical manifestations are highly variable. Linkage analysis is used to localize a gene causing an inherited autosomal dominant disease, such as HCM. Linkage analysis requires that large families be evaluated clinically to determine the members with and without the disease. For this study, DNA needs to be extracted from blood samples of family members. The presence of the disease is determined by history and physical exam, 12 lead ECG and 2-D echocardiogram. The likelihood of localizing the gene increases with the size of the family and the number of members evaluated. The beta myosin heavy chain (beta-MHC) gene has been shown to be responsible for HCM in 10%-30% of affected kindreds. Other linage studies have shown that there are at least 3 other genes which cause HCM in other kindreds, but these genes are presently unknown. We have identified 13 unique mutations in the beta-MHC gene which cause the disease in 17 kindreds. This has allowed us to demonstrate skeletal muscle involvement, study the abnormal physiology which is a consequence of the mutations, make pre-symptomatic diagnosis, and redefine the natural history of the disease. In order to continue our clinical and laboratory studies of this disease over the next 3 years, it is our intention to identify 50 additional HCM kindreds, with approximately 50 members each, that have beta-MHC gene mutations. During this time, in order to map other HCM genes, we will also evaluate at least 6 families, of approximately 300 members each, in which the disease is not linked to the beta-MHC gene.
  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

INLUSION CRITERIA

Patients with a family history of hypertrophic cardiomyopathy are eligible.

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001225


Locations
United States, Maryland
National Heart, Lung and Blood Institute (NHLBI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00001225     History of Changes
Other Study ID Numbers: 870057
87-H-0057
First Submitted: November 3, 1999
First Posted: November 4, 1999
Last Update Posted: March 4, 2008
Last Verified: August 2002

Keywords provided by National Institutes of Health Clinical Center (CC):
DNA Polymorphisms
Echocardiography
Gene Mapping
Linkage Analysis
Hypertrophic Cardiomyopathy

Additional relevant MeSH terms:
Cardiomyopathies
Hypertrophy
Cardiomyopathy, Hypertrophic
Heart Diseases
Cardiovascular Diseases
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases