Middle Aortic Syndrome in a Boy with Arteriohepatic Dysplasia (Alagille Syndrome)

Abstract

Middle aortic syndrome is increasingly recognized as a cause of hypertension in adolescents and young adults. Alagille syndrome is a genetic disorder characterized by hepatic, eye, and bony abnormalities. Cardiovascular lesions occur in most of the patients, but narrowing of the abdominal aorta has not been previously recorded. We present an unusual association between middle aortic syndrome and Alagille syndrome, with a similar vascular lesion seen in two generations.

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome

“…Isolated coarctation of the abdominal aorta is a rare finding [Graham et al, 1979;Cohen and Birnbaum, 1988], and it is even more unusual in patients with AGS. Indeed, this association has only been reported three times [LaBrecque et al, 1982;Shefler et al, 1997;Quek et al, 2000]. Our proband is the fourth reported patient with AGS and abdominal aortic coarctation.…”

“…Abdominal coarctation of the aorta is a rare vascular defect which to date has been described only three times in patients with AGS [LaBrecque et al, 1982;Shefler et al, 1997;Quek et al, 2000]. Recently, Loomes et al [1999] and Jones et al [2000] demonstrated that Jagged1 is expressed in the developing heart and in multiple associated vascular structures in a pattern that fits the congenital heart defects observed in patients with AGS.…”

Successful stenting for renal artery stenosis in a patient with Alagille syndrome

“…Peripheral pulmonary artery stenosis is a classic finding, and stenosis of the aorta [8,9] and cerebral artery [10] has also been described. Kamath et al reviewed 268 patients with Alagille syndrome at The Children's Hospital of Philadelphia and found that 9% of patients had non-cardiac vascular anomalies or events [11].…”

JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype

“…This is interesting as diffuse vascular abnormalities are a minor feature of Alagille syndrome. Renal artery stenosis,22 middle aortic syndrome,23 and intracranial bleeding8 have all been associated with Alagille syndrome. Additionally, patients sometimes have ileal stenosis or atresia suggesting possible prenatal ischaemic injury.…”