2008, Number 6
Congenital aortic coarctation, a rare form. Two cases report in non-twin brothers with late detection and treatment, and literature review
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ABSTRACTCardiovascular malformations are the most common deadly congenital defects. They occur in approximately 1% of live births and represent one of the major causes of child mortality after labor; moreover they are the main cause of prenatal deaths. Incidence of congenital heart disease, in moderate to severe manner, occurs in 3 to 6 per 1,000 live births, most are from mothers without an identifiable risk factor for congenital heart disease, and is estimated an annual increase close to 5% in USA adult population. Aortic coarctation represents about 6 to 8% of the congenital heart diseases, it is reported 2 to 5 fold frequency in men, its severity is directly related with the length of the coarctaction and the association with another congenital heart disease. Related to Turner syndrome, aortic coarctation is present in about 10%. Closely related with bicuspid aortic valve in 40% of cases. Familiar presentation occurs exceptionally, and has been reported only in less than 3% of cases. There is very few evidence of familiar congenital risk for left ventricular outflow tract malformations, in aortic coarctaction there are no identified genes involved as a cause; as an isolated disease is associated with diabetic embriopathy, where there is a 3 to 5% of major risk in comparison with non diabetic women depending of the glycemic control. The most common malformations associated to maternal diabetes are the ventricular septum defects, aortic coarctation and great arteries transposition. We report two cases in two non-twin brothers with atypical presentation, successful late endovascular reparation and a comprehensive review of the literature of this entity, especially looking for familiar presentation, genetic trait, management and complications.
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