What is the Heart Disease in Alagille Syndrome?
Nearly all patients with AGS have a heart murmur (an extra heart sound) at some time in their lives. The most common cause of this murmur is a narrowing of the arteries (blood vessels from heart to the lungs) in the lungs. This is called peripheral pulmonic stenosis or PPS. It usually causes no problems. AGS can also cause more severe problems affecting the formation of the heart and blood vessels. The most important problems involve the right side of the heart. Two of these problems are called Tetralogy of Fallot (ToF) and pulmonary atresia (PA). In PA, the pulmonary artery (the blood vessel from the heart to the lungs) does not form normally. In some infants, the heart disease is identified by the first day of life, even before liver disease is noticed. What Problems Can Alagille Syndrome Cause in Other Organs? Alagille syndrome was first diagnosed only in infants who had too few bile ducts, but who also had at least three of five other problems. The other five problems are cholestas
