Genes Causing Ebstein's Anomaly
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Purpose
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 |
|---|
|
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 |
| Study Start Date: | July 2007 |
| Primary Completion Date: | July 2009 (Final data collection date for primary outcome measure) |
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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
- 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.
Contacts and Locations| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | |
| Bethesda, Maryland, United States, 20892 | |
| Belarus | |
| Republican Scientific and Clinical Cardiology Center | |
| Republic of Belarus, Belarus | |
| Ukraine | |
| Amosov Institute of Cardiovascular Surgery | |
| Kyiv, Ukraine | |
More Information
Publications:
| ClinicalTrials.gov Identifier: | NCT00497705 History of Changes |
| Other Study ID Numbers: | 070186, 07-H-0186 |
| Study First Received: | July 6, 2007 |
| Last Updated: | September 4, 2009 |
| 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 |
Transposition of Great Vessels Cardiovascular Abnormalities Cardiovascular Diseases Heart Diseases Aortopulmonary Septal Defect |
ClinicalTrials.gov processed this record on May 22, 2013