Literature retrieval from the PubMed, Google Scholar and “ Baidu” Scholar was conducted for articles published from 1990 to 2021. Complex congenital heart defects, such as tetralogy of Fallot and pulmonary atresia, have been described in Alagille syndrome, which are proven to be associated with increased morbidity and mortality. Local peripheral pulmonary artery stenosis accounts for 75–90%, while diffuse pulmonary artery stenosis and pulmonary artery hypoplasia are uncommon, but capable of causing pulmonary artery hypertension. The pulmonary artery stenosis is usually peripheral, but sometimes central, valvular, supravalvular, or even hypoplastic or atresic. The most common vascular manifestation of Alagille syndrome is pulmonary artery stenosis. Heart defects are found in 87.8% of cases. The cholestasis may be associated with pruritus, episodic jaundice, hepatomegaly, xanthomas and high cholesterol, phospholipid and triglyceride levels. Cholestasis develops within the first 3 years of age with 45% of cases appearing in the first 3 months of life.

The diagnostic criteria of Alagille syndrome are cholestatic jaundice, peripheral pulmonary artery stenosis, skeletal or ocular abnormalities, typical facial features and paucity of the bile duct on liver biopsy. The estimated prevalence of Alagille syndrome is 1 in every 100,000 live births.

Alagille syndrome, also termed as syndromic bile duct paucity or arteriohepatic dysplasia involving the liver, heart, eyes, face and skeleton, is an autosomal dominant disorder due to mutations of the Jagged1 ( JAG1) gene of the Notch signaling pathway.

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