Abdominal coarctation and Alagille syndrome

Structural cardiac defects such as peripheral pulmonary stenosis are well-d escribed in Alagille syndrome (AS), which is transmitted in an autosomal do minant inheritance. The genetic defect, with incomplete penetrance and vari able 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 pa in. The association of abdominal coarctation with AS is rarely described. W e report such a patient who also had aberrations of the visceral vascular s upply 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.