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.

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.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department Clinical Research Informatics, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/13/2009