Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease - Full Text View

Sponsored by:	National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00001881

Purpose

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
Cardiomyopathy, Hypertrophic, Familial

MedlinePlus related topics: Cardiomyopathy Heart Diseases

U.S. FDA Resources

Study Type:	Observational
Official Title:	Clinical Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy

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

Estimated Enrollment:	9999
Study Start Date:	March 1999
Estimated Study Completion Date:	April 2001

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Individuals with cardiomyopathy referred for evaluation to the NIH.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001881

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:

Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation. 1995 Aug 15;92(4):700-4. Review. No abstract available.

Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92. Review.

Fananapazir L, McAreavey D. Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death. Pacing Clin Electrophysiol. 1997 Feb;20(2 Pt 2):478-501. Review.

Study ID Numbers:	990065, 99-H-0065
Study First Received:	November 3, 1999
Last Updated:	March 3, 2008
ClinicalTrials.gov Identifier:	NCT00001881
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Cardiac Hypertrophy
Genetics
Phenotypes
Hypertrophic Cardiomyopathy

Study placed in the following topic categories:

Pathological Conditions, Anatomical
Heart Diseases
Constriction, Pathologic
Aortic valve stenosis
Cardiomyopathies
Heart Valve Diseases
Signs and Symptoms

Hypertrophy
Cardiomyopathy, Hypertrophic, Familial
Genetic Diseases, Inborn
Cardiomyopathy, Hypertrophic
Congenital Abnormalities
Aortic Valve Stenosis

Additional relevant MeSH terms:

Aortic Stenosis, Subvalvular
Cardiovascular Diseases

ClinicalTrials.gov processed this record on January 15, 2009