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Congenitally corrected transposition Wallis GA; Debich-Spicer D; Anderson RHOrphanet J Rare Dis 2011[May]; 6 (ä): 22Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.|Congenitally Corrected Transposition of the Great Arteries[MESH]|Electrocardiography[MESH]|Humans[MESH]|Incidence[MESH]|Myocardium/pathology[MESH]|Transposition of Great Vessels/diagnosis/epidemiology/*genetics/pathology[MESH] |
