Genes Causing Ebstein's Anomaly

Heart Defects, Congenital Clinical Trial

Official title:

Genes Causing Congenital Ebstein's Anomaly

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00497705
• Other study ID #: 070186
• Secondary ID: 07-H-0186
• Status: Completed
• Phase: N/A
• First received: July 6, 2007
• Last updated: June 30, 2017
• Start date: July 3, 2007

Study information

• Verified date: July 7, 2009
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 0
• Est. primary completion date: July 7, 2009
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

• 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.

Related Conditions & MeSH terms

• Congenital Abnormalities
• Double Outlet Right Ventricle
• Ebstein Anomaly
• Heart Defects, Congenital
• Heart Septal Defects
• Heart Septal Defects, Ventricle
• Truncus Arteriosus, Persistent

Locations

Country	Name	City	State
Belarus	Republican Scientific and Clinical Cardiology Center	Republic of Belarus
Ukraine	Amosov Institute of Cardiovascular Surgery	Kyiv
United States	National Institutes of Health Clinical Center, 9000 Rockville Pike	Bethesda	Maryland

Sponsors (1)

Lead Sponsor	Collaborator
National Heart, Lung, and Blood Institute (NHLBI)

Countries where clinical trial is conducted

United States,  Belarus,  Ukraine, 

References & Publications (3)

Abu-Issa R, Waldo K, Kirby ML. Heart fields: one, two or more? Dev Biol. 2004 Aug 15;272(2):281-5. Review. — View Citation

Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation. 2007 Jan 16;115(2):277-85. Review. — View Citation

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. — View Citation