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

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 27, 2001
Last updated: March 3, 2008
Last verified: April 2003

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.

Congenital Heart Defect

Study Type: Observational
Official Title: Clinical Correlates of Molecular Defects in Familial Cardiomyopathy

Resource links provided by NLM:

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

Estimated Enrollment: 9999999
Study Start Date: April 1998
Estimated Study Completion Date: April 2003
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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


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.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00027196

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: Identifier: NCT00027196     History of Changes
Other Study ID Numbers: 980100
Study First Received: November 27, 2001
Last Updated: March 3, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
Cardiac Diseases
Cardiac Hypertrophy
Sudden Death

Additional relevant MeSH terms:
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities processed this record on July 21, 2017