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| ID | Type | Description | Link |
|---|---|---|---|
| 07-H-0186 |
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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:
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.
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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.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | United States | ||
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 15282148 | Background | 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. | |
| 17228014 | Background | 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. |
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| ID | Term |
|---|---|
| D006343 | Heart Septal Defects |
| D006330 | Heart Defects, Congenital |
| D004310 | Double Outlet Right Ventricle |
| D014339 | Truncus Arteriosus, Persistent |
| D004437 | Ebstein Anomaly |
| ID | Term |
|---|---|
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
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| Republican Scientific and Clinical Cardiology Center |
| Republic of Belarus |
| Belarus |
| Amosov Institute of Cardiovascular Surgery | Kyiv | Ukraine |
| 8988165 | Background | 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. |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006345 | Heart Septal Defects, Ventricular |
| D014188 | Transposition of Great Vessels |
| D001028 | Aortopulmonary Septal Defect |