Genes Causing Ebstein's Anomaly

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00497705
First received: July 6, 2007
Last updated: September 4, 2009
Last verified: July 2009

July 6, 2007
September 4, 2009
July 2007
July 2009   (final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT00497705 on ClinicalTrials.gov Archive Site
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Genes Causing Ebstein's Anomaly
Genes Causing Congenital Ebstein's Anomaly

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.

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.

Observational
Time Perspective: Prospective
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  • Heart Septal Defects, Ventricle
  • Heart Defects, Congenital
  • Double Outlet Right Ventricle
  • Truncus Arteriosus, Persistent
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
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July 2009   (final data collection date for primary outcome measure)
  • INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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

Both
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Yes
Contact information is only displayed when the study is recruiting subjects
United States,   Belarus,   Ukraine
 
NCT00497705
070186, 07-H-0186
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National Heart, Lung, and Blood Institute (NHLBI)
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National Institutes of Health Clinical Center (CC)
July 2009

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP