Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease

NCT ID: NCT00001881

Last Updated: 2008-03-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

9999 participants

Study Classification

OBSERVATIONAL

Study Start Date

1999-03-31

Study Completion Date

2001-04-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Cardiomyopathy, Hypertrophic, Familial

Eligibility Criteria

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Inclusion Criteria

Individuals with cardiomyopathy referred for evaluation to the NIH.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role lead

Locations

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National Heart, Lung and Blood Institute (NHLBI)

Bethesda, Maryland, United States

Site Status

Countries

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United States

References

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Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation. 1995 Aug 15;92(4):700-4. doi: 10.1161/01.cir.92.4.700. No abstract available.

Reference Type BACKGROUND
PMID: 7641346 (View on PubMed)

Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92. doi: 10.1161/01.cir.92.7.1680.

Reference Type BACKGROUND
PMID: 7671349 (View on PubMed)

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. doi: 10.1111/j.1540-8159.1997.tb06206.x.

Reference Type BACKGROUND
PMID: 9058851 (View on PubMed)

Other Identifiers

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99-H-0065

Identifier Type: -

Identifier Source: secondary_id

990065

Identifier Type: -

Identifier Source: org_study_id

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