Case Report

Alagille Syndrome: An Unusual Presentation of an Uncommon Disease

Authors: Michael Funk, MD, Michael Cohen, MD, Orlando Santana, MD

Abstract

Alagille syndrome is a rare genetic disorder that results in intrahepatic cholestasis. Cardiac involvement mainly involves stenosis of branches of the pulmonary arteries. Aortic valve involvement is less common. To our knowledge, this is the first case of Alagille syndrome associated with severe aortic stenosis due to a bicuspid aortic valve.

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References

1. Krantz ID, Piccoli DA, Spinner NB. Alagille syndrome. J Med Genet 1997;34:152–157.
 
2. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille Syndrome: a significant cause of morbidity and mortality. Circulation 2004;109:1354–1358.
 
3. Niessen K, Karsan A. Notch signaling in cardiac development. Circ Res 2008;102:1169–1181.
 
4. Mueller RF. The Alagille syndrome (arteriohepatic dysplasia). J Med Genet 1987;24:621–626.
 
5. McElhinney DB, Krantz ID, Bason L, et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 2002;106:2567–2574.
 
6. Alagille D, Estrada A, Hadchouel M, et al. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 1987;100:195–200.
 
 
7. Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999;29:822–829.