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Home > "F" Clinical Trials Conditions > Family Studies of Inherited Heart Disease Family Studies of Inherited Heart Disease
Family Studies of Inherited Heart Disease
For Condition: Hypertrophic Cardiomyopathy
Status: Completed
Sponsor(s): National Heart, Lung, and Blood Institute (NHLBI) ,
Synopsis: 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).
Details: 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:
Study Type: Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INLUSION CRITERIA Patients with a family history of hypertrophic cardiomyopathy are eligible.
Total Enrollment: 5880
Location and Contact Information:
National Heart, Lung and Blood Institute (NHLBI)
Bethesda, Maryland, 20892
United States
Additional Information:
Study ID Numbers: 870057; 87-H-0057
Study Start Date: April 13, 1987
Record last reviewed: August 29, 2002
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001225
Other Hypertrophic Cardiomyopathy Studies:
1. Screening for Inherited Heart Disease
2. Evaluation of Patients with Known or Suspected Heart Disease
3. Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy of Children with Obstructive Hypertrophic Cardiomyopathy (HCM)
4. Family Studies of Hypertrophic/Dilated Cardiomyopathy
5. A Comparison of Two Treatments' Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy
Related Studies:
Other Hypertrophic Cardiomyopathy Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Family Studies of Inherited Heart Disease
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