Signs and Symptoms Associated With Molecular Defects in Genetically Inherited Heart Disease

March 3, 2008 updated by: National Heart, Lung, and Blood Institute (NHLBI)

Clinical Correlates of Molecular Defects in Familial Cardiomyopathy

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

Researchers are interested in learning more about the specific genetic abnormalities causing heart diseases. In addition, they would like to find out how these abnormal genes can contribute to the development of other medical problems.

In order to do this, researchers plan to study patients and family members of patients diagnosed with genetically inherited heart disease. Those people participating in the study will undergo a variety of tests including blood tests, echocardiograms, and magnetic resonance imaging studies (MRI). These tests will be used to help researchers find the genetic problem causing the familial cardiopathy.

Researchers hope that the information gathered from this study can be used to develop better medical care through early diagnosis, management, and treatment plans.

Study Overview

Status

Completed

Conditions

Detailed Description

Familial cardiomyopathies (FC) are important cardiovascular causes of morbidity and mortality that demonstrate both allelic and non-allelic genetic heterogeneity. We propose to perform genetic studies to determine novel molecular causes of FC and to describe their clinical correlates. This will permit: (1) pre-symptomatic diagnosis; (2) definition of cardiac phenotype, disease penetrance; (3) natural history; (4) study of abnormal physiology that is a consequence of the molecular defect; (5) elucidation of specific mechanisms of arrythmias and sudden death; and (6) demonstration and characterization of skeletal muscle involvement.

Study Type

Observational

Enrollment

9999999

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Heart, Lung and Blood Institute (NHLBI)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

INCLUSION AND EXCLUSION CRITERIA

The subjects will consist of family members who may have inherited FC and spouses that may help in the linkage studies. Family members or spouses who do not wish to participate in the research protocol will be excluded from the study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 1998

Study Completion

April 1, 2003

Study Registration Dates

First Submitted

November 27, 2001

First Submitted That Met QC Criteria

November 27, 2001

First Posted (Estimate)

November 28, 2001

Study Record Updates

Last Update Posted (Estimate)

March 4, 2008

Last Update Submitted That Met QC Criteria

March 3, 2008

Last Verified

April 1, 2003

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 980100
  • 98-H-0100

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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