Genes Causing Ebstein's Anomaly
Genes Causing Congenital Ebstein's Anomaly
2 other identifiers
observational
N/A
3 countries
3
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 3, 2007
CompletedFirst Submitted
Initial submission to the registry
July 6, 2007
CompletedFirst Posted
Study publicly available on registry
July 9, 2007
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 7, 2009
CompletedJuly 2, 2017
July 7, 2009
2 years
July 6, 2007
June 30, 2017
Conditions
Keywords
Eligibility Criteria
You may qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (3)
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892, United States
Republican Scientific and Clinical Cardiology Center
Republic of Belarus, Belarus
Amosov Institute of Cardiovascular Surgery
Kyiv, Ukraine
Related Publications (3)
Abu-Issa R, Waldo K, Kirby ML. Heart fields: one, two or more? Dev Biol. 2004 Aug 15;272(2):281-5. doi: 10.1016/j.ydbio.2004.05.016. No abstract available.
PMID: 15282148BACKGROUNDAttenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation. 2007 Jan 16;115(2):277-85. doi: 10.1161/CIRCULATIONAHA.106.619338. No abstract available.
PMID: 17228014BACKGROUNDBasson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997 Jan;15(1):30-5. doi: 10.1038/ng0197-30.
PMID: 8988165BACKGROUND