Treacher Collins Syndrome

The patient is a 48-year-old man with Treacher Collins syndrome (TCS) and a precordial murmur known since childhood. He was initially evaluated at 33 years of age for moderate aortic insufficiency and a noncoronary sinus of Valsalva aortic aneurysm. Over time, his aortic disease progressed. His ECG demonstrated sinus rhythm with borderline first-degree atrioventricular block, left ventricular hypertrophy with intraventricular conduction delay, and secondary repolarization abnormalities (Figure 1). His chest x-ray showed biapical pleural-parenchymal scarring with no acute cardiopulmonary abnormality (Figure 2).Transesophageal echocardiography demonstrated severe aortic insufficiency and a large noncoronary sinus of Valsalva (Movie I in the online-only Data Supplement). The aneurysm was also observed to protrude into the right atrium. Cardiac catheterization confirmed similar findings of the …