Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome

Alagille syndrome is a rare multisystemic genetic condition most commonly associated with neonatal liver disease. Variable expressivity is a defining feature of Alagille syndrome, resulting in a broad spectrum of phenotypic variation among individuals who meet the diagnostic criteria. We present an atypical case of cardiac-predominant Alagille syndrome diagnosed in adulthood after the detection of peripheral pulmonary stenosis on cardiac magnetic resonance imaging (CMR).