Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease

Cardiomyopathy, Hypertrophic, Familial Clinical Trial

Official title:

Clinical Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00001881
• Other study ID #: 990065
• Secondary ID: 99-H-0065
• Status: Completed
• Phase: N/A
• First received: November 3, 1999
• Last updated: March 3, 2008
• Start date: March 1999
• Est. completion date: April 2001

Study information

• Verified date: February 2000
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 9999
• Est. completion date: April 2001
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older
• Eligibility: Individuals with cardiomyopathy referred for evaluation to the NIH.

Study Design

N/A

Related Conditions & MeSH terms

• Cardiomyopathies
• Cardiomyopathy, Hypertrophic
• Cardiomyopathy, Hypertrophic, Familial
• Hypertrophy

Locations

Country	Name	City	State
United States	National Heart, Lung and Blood Institute (NHLBI)	Bethesda	Maryland

Sponsors (1)

Lead Sponsor	Collaborator
National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

References & Publications (3)

Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation. 1995 Aug 15;92(4):700-4. Review. — View Citation

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. — View Citation

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