Track topics on Twitter Track topics that are important to you
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
Cone reconstruction is a novel surgical procedure for tricuspid valve repair in Ebstein anomaly. This study examined the effect of cone reconstruction on right ventricle (RV) geometry, function, and s...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive overgrowth disorder with prominent craniofacial manifestations. Macrodontia is also an uncommon dental anomaly that can be an isolate...
[Purpose] A butterfly vertebra is a rare congenital anomaly resulting from a symmetric fusion defect. Only a few cases of butterfly vertebra have been described. This anomaly may be isolated or associ...
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 y...
This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These diso...
The anomalous origin of right coronary artery (RCA) is a rare coronary anomaly. Recently, the detection of this anomaly has been more frequent as the use of cardiac multidetector computed ...
This study focuses on women undergoing termination of pregnancy for fetal anomalies (TOPFA). Psychological consequences of such terminations may be even greater than those associated with ...
The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down ...
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.
A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.
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).
Congenital or developmental anomaly in which the eyeballs are abnormally small.
Asthma COPD Cystic Fibrosis Pneumonia Pulmonary Medicine Respiratory Respiratory tract infections (RTIs) are any infection of the sinuses, throat, airways or lungs. They're usually caused by viruses, but they can also ...