Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Pediatrics, Cardiovascular System & Cardiology, Alagille syndrome, tetralogy of Fallot, absent pulmonary valve, JAG1, Notch signalling, JAGGED1, TETRALOGY, FALLOT, Alagille Syndrome, Calcium-Binding Proteins, Child, Female, Heart Defects, Congenital, Humans, Infant, Newborn, Intercellular Signaling Peptides and Proteins, Jagged-1 Protein, Male, Membrane Proteins, Mutation, Phenotype, Serrate-Jagged Proteins, Young Adult, 1102 Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology
We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient's sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.