Genes Causing Ebstein's Anomaly - Full Text View

Sponsored by:	National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00497705

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

MedlinePlus related topics: Congenital Heart Defects

U.S. FDA Resources

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

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

Study Start Date:

July 2007

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00497705

Contacts

Contact: Patient Recruitment and Public Liaison Office	(800) 411-1222	prpl@mail.cc.nih.gov
Contact: TTY	1-866-411-1010

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

Sponsors and Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

More Information

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

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. Review. No abstract available.

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.

Study ID Numbers:	070186, 07-H-0186
Study First Received:	July 6, 2007
Last Updated:	July 18, 2008
ClinicalTrials.gov Identifier:	NCT00497705
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

Study placed in the following topic categories:

Transposition of great arteries
Heart Septal Defects
Ebstein Anomaly
Heart Diseases
Cardiovascular Abnormalities
Ebstein's anomaly
Transposition of Great Vessels

Congenital heart septum defect
Great vessels transposition
Double outlet right ventricle
Truncus Arteriosus, Persistent
Congenital Abnormalities
Heart Defects, Congenital
Double Outlet Right Ventricle

Additional relevant MeSH terms:

Aortopulmonary Septal Defect
Cardiovascular Diseases

ClinicalTrials.gov processed this record on January 16, 2009