Genes Causing Ebstein's Anomaly

NCT ID: NCT00497705

Last Updated: 2017-07-02

Basic Information

• Recruitment Status: COMPLETED
• Study Classification: OBSERVATIONAL
• Study Start Date: 2007-07-03

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.

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.

Conditions

Heart Septal Defects, Ventricle; Heart Defects, Congenital; Double Outlet Right Ventricle; Truncus Arteriosus, Persistent

Study Design

• Study Time Perspective: PROSPECTIVE

Eligibility 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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: lead

Locations

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, United States

Republican Scientific and Clinical Cardiology Center

Republic of Belarus, , Belarus

Amosov Institute of Cardiovascular Surgery

Kyiv, , Ukraine

Countries

United States; Belarus; Ukraine

References

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.

Reference Type: BACKGROUND

PMID: 15282148 (View on PubMed)

Attenhofer 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.

Reference Type: BACKGROUND

PMID: 17228014 (View on PubMed)

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. doi: 10.1038/ng0197-30.

Reference Type: BACKGROUND

PMID: 8988165 (View on PubMed)

Other Identifiers

07-H-0186

Identifier Type: -

Identifier Source: secondary_id

070186

Identifier Type: -

Identifier Source: org_study_id