Unicuspid aortic valve in Turner syndrome, detected by 3D transoesophageal echocardiography: The usefulness of 3D Echo in challenge diagnosis

Turner syndrome is a genetic disorder associated with a variable range of cardiac congenital diseases. Out of these, unicuspid aortic valve is a rare malformation, related to premature aortic stenosis and its diagnosis represents a challenge with transthoracic echocardiography. The application of 3D echocardiography could facilitate the diagnosis, especially with transoesophageal approach. Moreover, cardiac computed tomography and cardiac magnetic resonance have demonstrated their usefulness for detection of aortic morphology. We report a case of young patient affected by Turner syndrome, with unicuspid aortic valve, identified by 3D transoesophageal echocardiography and confirmed by cardiac computed tomography. The patient was submitted to aortic valve replacement.