Genes Causing Ebstein's Anomaly

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: July 6, 2007
Last updated: September 26, 2015
Last verified: July 2009

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.

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

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Genes Causing Congenital Ebstein's Anomaly

Resource links provided by NLM:

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

Study Start Date: July 2007
Primary Completion Date: July 2009 (Final data collection date for primary outcome measure)
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.

Genders Eligible for Study:   Both
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
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: 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

Publications: Identifier: NCT00497705     History of Changes
Other Study ID Numbers: 070186  07-H-0186 
Study First Received: July 6, 2007
Last Updated: September 26, 2015
Health Authority: United States: Federal Government

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
Double Outlet Right Ventricle
Ebstein Anomaly
Heart Defects, Congenital
Heart Septal Defects
Truncus Arteriosus, Persistent
Aortopulmonary Septal Defect
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Transposition of Great Vessels processed this record on May 26, 2016