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Protocol Number:
07-H-0186
- Title:
Genes Causing Congenital Ebstein's Anomaly
- Number:
07-H-0186
- 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.
- Sponsoring Institute:
-
National Heart, Lung and Blood Institute (NHLBI)
- Recruitment Detail
- Type:
Recruitment has not started
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Special Instructions:
Currently Not Provided
- Keyword(s):
-
Ebsteins Anomaly
-
Heart Septal Defects, Ventricle
-
Heart Defects, Congenital
-
Double Outlet Right Ventricle
-
Truncus Arteriosus Persistant
- Recruitment Keyword(s):
-
Ebstein's Anomaly
-
Congenital Heart Disease
-
Heart Defects
- Condition(s):
-
Heart Septal Defects, Ventricle
-
Heart Defects, Congenital
-
Double Outlet Right Ventricle
-
Truncus Arteriosus, Persistent
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Interventions:
- None
- Supporting Site:
-
National Heart, Lung and Blood Institute
- Contact(s):
-
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Citation(s):
-
Abu-Issa R, Waldo K, Kirby ML. Heart fields: one, two or more? Dev Biol. 2004 Aug 15;272(2):281-5. Review. No abstract available.
-
Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation. 2007 Jan 16;115(2):277-85.
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Basson 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. Erratum in: Nat Genet 1997 Apr;15(4):411.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/15/2008
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