Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease

NCT00001881 | Completed

• 2 other identifiers: 99006599-H-0065
• Study Type: observational
• Target: 9,999
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Cardiomyopathy, Hypertrophic, Familial

Keywords

Cardiac Hypertrophy; Genetics; Phenotypes; Hypertrophic Cardiomyopathy

Eligibility Criteria

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

Individuals with cardiomyopathy referred for evaluation to the NIH.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

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

• 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

• 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.

  PMID: 9058851 BACKGROUND

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic, Familial; Cardiomegaly; Cardiomyopathy, Hypertrophic

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: December 10, 2002
• Study Start: March 1, 1999
• Study Completion: April 1, 2001
• Last Updated: March 4, 2008

Record last verified: 2000-02

Locations

US (1)