Researchers presented a rare case of an individual complaining of renovascular hypertension who was diagnosed with Alagille syndrome (ALGS), as published in the Journal of Genetic Medicine.

“In contrast to most ALGS cases where the symptoms at presentation are related to congenital liver disease and heart anomalies within the first year of life, the clinical symptom leading to the diagnosis of ALGS in our case was hypertension due to multiple vascular anomalies that afflicted the patient later in her life,” the researchers explained.

The patient was 16 years old and had 4 manifestations suggestive of ALGS: hypertension with arterial stenosis, congenital heart defect, dysmorphic facial appearance, and butterfly vertebra. Moreover, her brother died of pulmonary atresia at the age of 8 years, which raised the suspicion of familial ALGS.

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To confirm the diagnosis of ALGS, whole-exome sequencing was performed. The analysis identified a pathogenic variant of the JAG1 gene, c.1899_1900delTG (p.Cys633*).

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Lee et al explained that the patient presented with hypertension on routine examination. Subsequent investigation to determine the cause of hypertension revealed stenosis in both renal arteries and in the proximal portion of the superior mesenteric artery, complete celiac artery occlusion, and long segmental luminal narrowing of the infrarenal abdominal aorta.

Moreover, brain magnetic resonance imaging showed a steno-occlusive change in the left internal carotid artery and left proximal anterior cerebral artery. Except for a dysmorphic facial appearance, the patient showed a normal physical examination. Liver function tests were not suggestive of cholestasis.

She had increased levels of aldosterone and renin, an antinuclear antibody titer of 1:160, hypertriglyceridemia, and insulin resistance. She complained of sporadic and intermittent weakness in the left leg after walking for a long time, though the episodes resolved within seconds without intervention.

She did not experience headaches, abdominal pain, palpitations, nausea, dyspepsia, or jaundice. Her growth and development were normal for her age. Lastly, the patient had a history of a ventricular septal defect, which was resolved early in life, and polycystic ovary syndrome.


Lee YH, Jeon YH, Lim SH, et al. A patient with multiple arterial stenosis diagnosed with Alagille syndrome: a case report. J Genet Med. 2021;18(2):142-146. doi:10.5734/JGM.2021.18.2.142