Ebstein's anomaly and Down's syndrome.
Summary of "Ebstein's anomaly and Down's syndrome."
We report on two cases presenting with a rare combination of Ebstein's anomaly and Down's syndrome. The first patient presented with respiratory distress, mild cyanosis and right heart failure immediately after delivery. The symptoms improved with heart failure medication. The patient remained asymptomatic on follow up. The second patient was diagnosed antenatally with marked apical displacement of the tricuspid valve and a very small functional right ventricle compared to the left ventricle. At birth, the patient presented with an extreme form of Ebstein's anomaly with severe cyanosis, marked right heart failure and ductal-dependent pulmonary blood flow. The patient died within days of birth.
Dora Nginza Hospital, Port Elizabeth Hospital Complex, Port Elizabeth, South Africa.
This article was published in the following journal.
Name: Cardiovascular journal of Africa
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/24042541
- DOI: http://dx.doi.org/10.5830/CVJA-2013-054
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Medical and Biotech [MESH] Definitions
A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle.
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Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
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