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

NCT00027196 | Completed

• 2 other identifiers: 98010098-H-0100
• Study Type: observational
• Target: 9,999,999
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Congenital Heart Defect

Keywords

Genetics; Cardiac Diseases; Cardiac Hypertrophy; Sudden Death; Arrhythmias

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Heart, Lung and Blood Institute (NHLBI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 7641346 BACKGROUND

• Maron BJ, Bonow RO, Cannon RO 3rd, Leon MB, Epstein SE. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1). N Engl J Med. 1987 Mar 26;316(13):780-9. doi: 10.1056/NEJM198703263161305. No abstract available.

  PMID: 3547130 BACKGROUND

• 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.

  PMID: 7671349 BACKGROUND

MeSH Terms

Conditions

Heart Defects, Congenital; Heart Diseases; Cardiomegaly; Death, Sudden; Arrhythmias, Cardiac

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Death; Pathologic Processes

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 27, 2001
• First Posted: November 28, 2001
• Study Start: April 1, 1998
• Study Completion: April 1, 2003
• Last Updated: March 4, 2008

Record last verified: 2003-04

Locations

US (1)