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Sponsored by: |
National Heart, Lung, and Blood Institute (NHLBI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00001225 |
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 |
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Hypertrophic Cardiomyopathy |
Study Type: | Observational |
Official Title: | Family Studies of Hypertrophic Cardiomyopathy |
Estimated Enrollment: | 5880 |
Study Start Date: | April 1987 |
Estimated Study Completion Date: | August 2002 |
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
INLUSION CRITERIA
Patients with a family history of hypertrophic cardiomyopathy are eligible.
Study ID Numbers: | 870057, 87-H-0057 |
Study First Received: | November 3, 1999 |
Last Updated: | March 3, 2008 |
ClinicalTrials.gov Identifier: | NCT00001225 |
Health Authority: | United States: Federal Government |
DNA Polymorphisms Echocardiography Gene Mapping Linkage Analysis Hypertrophic Cardiomyopathy |
Pathological Conditions, Anatomical Hypertrophy Heart Diseases Cardiomyopathy, Hypertrophic Constriction, Pathologic |
Aortic valve stenosis Aortic Valve Stenosis Cardiomyopathies Heart Valve Diseases |
Aortic Stenosis, Subvalvular Cardiovascular Diseases |