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  • Title: [Hypoplasia of the descending thoracic and abdominal aorta in Williams-Beuren syndrome].
    Author: Romer GS, Weishaupt D, Koppensteiner R.
    Journal: Vasa; 2005 May; 34(2):131-5. PubMed ID: 15968897.
    Abstract:
    Hypoplasia of the descending thoracic and abdominal aorta is a very rare condition and its etiology is poorly understood. Associations with congenital and acquired disorders have been reported. In this article we present the case of a 24-year-old woman with hypoplasia of the thoracic and abdominal aorta and Williams-Beurensyndrome. This rare syndrome is attributed to deletions of genes on chromosome 7, among other the elastin-gene, and is characterized by cardiovascular anomalies, dysmorph facial features and mental retardation. The patient presented with a history of severe hypertension and recurrent abdominal pain since childhood. Diagnosis was established by duplex-sonography and magnetic resonance angiography. The patient was treated by an aortoaortic bypass from the ascending to the infrarenal aorta with reinsertion of the visceral and the right renal arteries. It is essential to recognize the condition early to withhold high morbidity and mortality resulting from long standing severe hypertension.
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