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Genes Causing Ebstein's Anomaly

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ClinicalTrials.gov Identifier: NCT00497705
Recruitment Status : Completed
First Posted : July 9, 2007
Last Update Posted : July 2, 2017
Information provided by:

Study Description
Brief Summary:

This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease.

Adults and children 2 years of age and older with Ebstein's anomaly and healthy volunteers may be eligible for this study. Participants undergo the following procedures:

  • Blood tests: Three tube of blood will be collected, with the total amount limited to about half a teaspon for each two pounds of body weight.
  • Saliva sample collection: A small amount of saliva is collected by spitting into a sterile container.
  • Oral (cheek) swab: Cells are collected from the mouth using a soft brush to swab the inside lining of the cheek.
  • Electrocardiogram: The electrical activity of the heart is recorded using electrodes placed on the chest.
  • Echocardiogram: Heart function is assessed using ultrasound.

Condition or disease
Heart Septal Defects, Ventricle Heart Defects, Congenital Double Outlet Right Ventricle Truncus Arteriosus, Persistent

Detailed Description:
The goal of this study is to elucidate the genetic basis for the congenital heart disease (CHD) known as Ebstein's anomaly. These studies complement ongoing research studies using mouse models to recover mutations causing structural heart defects associated with human CHD. By elucidating the underlying genetic causes for Ebstien's anomaly, it may be possible to improve risk assessments as well as facilitate the development of new strategies for prevention and disease management. These studies are important for early diagnosis and the management of complications associated with surviving adults with Ebstein's anomaly, some of whom have undergone surgical correction and others that are unoperated.

Study Design

Study Type : Observational
Time Perspective: Prospective
Official Title: Genes Causing Congenital Ebstein's Anomaly
Study Start Date : July 3, 2007
Primary Completion Date : July 7, 2009

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Patients who have diagnosed Ebstein's anomaly or tricuspid valve disease in Belarus or Ukraine and their parents will be asked to participate in this study regardless of sex, age, or race. In addition, sex and age matched neighborhood children and their parents will be recruited as controls. There is no known ethnic or racial predilection for Ebstein's anomaly or tricuspid valve disease.


There are no exclusion criteria. This may allow us to discover previously unknown relationships between Ebstein's anomaly and other diseases.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00497705

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Republican Scientific and Clinical Cardiology Center
Republic of Belarus, Belarus
Amosov Institute of Cardiovascular Surgery
Kyiv, Ukraine
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
More Information

ClinicalTrials.gov Identifier: NCT00497705     History of Changes
Other Study ID Numbers: 070186
First Posted: July 9, 2007    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: July 7, 2009

Keywords provided by National Institutes of Health Clinical Center (CC):
Ebsteins Anomaly
Heart Septal Defects, Ventricle
Heart Defects, Congenital
Double Outlet Right Ventricle
Truncus Arteriosus Persistant
Ebstein's Anomaly
Congenital Heart Disease
Heart Defects

Additional relevant MeSH terms:
Congenital Abnormalities
Heart Septal Defects
Heart Defects, Congenital
Ebstein Anomaly
Double Outlet Right Ventricle
Truncus Arteriosus, Persistent
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Transposition of Great Vessels
Aortopulmonary Septal Defect