Genes Causing Ebstein's Anomaly

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.

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Key information

Conditions

Heart Septal Defects, Ventricle Aortopulmonary Septal Defect Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Double Outlet Right Ventricle Ebstein Anomaly Heart Defects, Congenital Heart Diseases Heart Septal Defects Heart Septal Defects, Ventricular Transposition of Great Vessels Truncus Arteriosus, Persistent

Sex eligibility

All sexes

Study type

Observational

Primary location

Republican Scientific and Clinical Cardiology Center, Republic of Belarus, Belarus

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Sponsors and collaborators

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Nih

Registry information

Official study title

Genes Causing Congenital Ebstein's Anomaly

Important dates

Study start: 2007
Primary completion: 2009
First posted: Jul 9, 2007
Registry last updated: Jul 2, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed