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Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. [1] EA has great anatomical heterogeneity that generates a wide spectrum of clinical features at presentation and is complicated by the fact that the ...
746.2 Ebstein's anomaly; 746.3 Congenital stenosis of aortic valve; 746.4 Congenital insufficiency of aortic valve; 746.5 Congenital mitral stenosis; 746.6 Congenital mitral insufficiency; 746.7 Hypoplastic left heart syndrome; 746.8 Other specified congenital anomalies of heart. 746.81 Subaortic stenosis congenital; 746.82 Cor triatriatum
Mutations in the gene cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development. Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma -like presentation.
Ebstein's anomaly [31] – about 50% of individuals with Ebstein anomaly have an associated shunt between the right and left atria, either an atrial septal defect or a patent foramen ovale. [32] Fetal alcohol syndrome – about one in four patients with fetal alcohol syndrome has either an ASD or a ventricular septal defect. [33]
Here are links to possibly useful sources of information about Ebstein's anomaly. PubMed provides review articles from the past five years (limit to free review articles) The TRIP database provides clinical publications about evidence-based medicine. Other potential sources include: Centre for Reviews and Dissemination and CDC
Though males and females were initially thought to be affected equally, more recent studies have found males to be affected more than females. [4] [12] It is the most common complex congenital heart defect, accounting for about 10 percent of cases. [13] [14] It was initially described in 1671 by Niels Steensen.
Date/Time Thumbnail Dimensions User Comment; current: 20:55, 4 December 2008: 1,609 × 1,035 (994 KB): Stevenfruitsmaak {{Information |Description={{en|1=10-lead ECG of a woman with Ebstein's anomaly (a congenital heart defect in which the opening of the tricuspid valve is displaced towards the apex of the right ventricle of the heart, resulting in a large right atrium).
Epidermolysis bullosa simplex is caused by genetic mutations that prevent the proper formation of protein structures in the skin’s epidermis. The proteins of the outer epidermis do not bond properly with those of the inner dermis layer (dermal-epidermal junction).