PURPOSE: @entity8404 is a @entity74 that is associated with cardiac, hepatic, skeletal, ocular, and @entity2122 . Mutations in the Notch signaling pathway, such as in @entity127 and @entity126 , play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. METHODS: We conducted a retrospective study of 41 @entity1 with @entity8404 or a @entity127 mutation between 1983 and 2013. RESULTS: The first presentations were @entity1087 , murmur, @entity848 , and @entity1744 at a median age of 1.0 months (range, 0-24 months). The @entity127 mutation was found in 27 of the 28 genetically-tested @entity1 . @entity854 were identified in 36 @entity1 , chronic @entity1448 was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and @entity299 . The most common @entity854 was @entity8404 (83.3%), with 13 @entity1 having significant hemodynamic derangement and 12 undergoing surgical repair. A total @entity648 level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight @entity1 died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and @entity299 had the poorest survival (P<0.001). CONCLUSION: The group with combined severe liver and @entity299 had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.

@entity8404 and a XXXX mutation: 41 cases of experience at a single center.

@entity2122 :: ('MESH:D019465', 'Disease') :: ['facial abnormalities'] @entity1 :: ('9606', 'Species') :: ['patients'] @entity1087 :: ('MESH:D007565', 'Disease') :: ['jaundice'] @entity8404 :: ('MESH:D016738', 'Disease') :: ['Alagille syndrome', 'peripheral pulmonary stenosis'] @entity648 :: ('MESH:D001663', 'Chemical') :: ['bilirubin'] @entity1744 :: ('MESH:D043183', 'Disease') :: ['small bowel obstruction'] @entity854 :: ('MESH:D018376', 'Disease') :: ['Cardiovascular anomalies', 'cardiovascular anomaly'] @entity1448 :: ('MESH:D002779', 'Disease') :: ['cholestasis'] @entity74 :: ('MESH:D030342', 'Disease') :: ['complex hereditary disorder'] @entity299 :: ('MESH:D006331', 'Disease') :: ['cardiac diseases', 'heart disease'] @entity127 :: ('182', 'Gene') :: ['JAG1'] @entity126 :: ('4853', 'Gene') :: ['NOTCH2'] @entity848 :: ('MESH:D003490', 'Disease') :: ['cyanosis']
@entity127 :: (182,Gene) :: ['JAG1']
