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  • Title: Abdominal coarctation and Alagille syndrome.
    Author: Quek SC, Tan L, Quek ST, Yip W, Aw M, Quak SH.
    Journal: Pediatrics; 2000 Jul; 106(1):E9. PubMed ID: 10878178.
    Abstract:
    Structural cardiac defects such as peripheral pulmonary stenosis are well-described in Alagille syndrome (AS), which is transmitted in an autosomal dominant inheritance. The genetic defect, with incomplete penetrance and variable expression, is localized to the short arm of chromosome 20. Abdominal coarctation is an uncommon congenital anomaly, with a spectrum of symptoms that may range from hypertension, intermittent claudication to abdominal pain. The association of abdominal coarctation with AS is rarely described. We report such a patient who also had aberrations of the visceral vascular supply involving the celiac, splenic, and superior mesenteric arteries. The indications to treat the coarctation, and in the context of a patient with AS, in whom liver transplantation may be contemplated at some stage, merit discussion.
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