Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease

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. Identifier: NCT00001881
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses.

In this study researchers hope to determine the signs and symptoms (clinical correlation) associated with specific genetic abnormalities causing inherited heart diseases.

In order to do this, researchers plan to evaluate patients and family members of patients diagnosed with inherited heart disease. Patients participating in the study will undergo several tests including blood tests, electrocardiograms (EKG), and echocardiograms. Patients may also be asked to undergo an MRI of the heart to provide a clearer picture of it.

Patients participating in this study may not be directly benefited by it. However, information gathered from the study may contribute to the medical care, treatment, and prevention of problems for others in the future.

Condition or disease
Cardiomyopathy, Hypertrophic, Familial

Detailed Description:
Familial cardiomyopathy (FC) often demonstrates both non-allelic and allelic genetic heterogeneity. We propose to determine the clinical correlates of specific genetic defects which cause FC by identifying and expanding a set of kindreds with identical and distinct molecular defects.

Study Type : Observational
Enrollment : 9999 participants
Official Title: Clinical Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy
Study Start Date : March 1999
Study Completion Date : April 2001

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Individuals with cardiomyopathy referred for evaluation to the NIH.

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 identifier (NCT number): NCT00001881

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)

Publications: Identifier: NCT00001881     History of Changes
Other Study ID Numbers: 990065
First Posted: December 10, 2002    Key Record Dates
Last Update Posted: March 4, 2008
Last Verified: February 2000

Keywords provided by National Institutes of Health Clinical Center (CC):
Cardiac Hypertrophy
Hypertrophic Cardiomyopathy

Additional relevant MeSH terms:
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Hypertrophic, Familial
Heart Diseases
Cardiovascular Diseases
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Genetic Diseases, Inborn