Heart failure in a patient with Noonan syndrome.

A 53-year-old man was admitted to our center with dyspnea and peripheral edema compatible with cardiac failure. His history was notable for Noonan syndrome, but he had not been seen a physician for 15 years. On examination, pectus excavatum, pectus carinatum, and low implantation of the ears were present (Figure 1). Blood pressure was 145/ 70 mm Hg, and pulse was irregular at 90 to 100 beats per minute. Cardiac auscultation showed a 4/6 holodiastolic murmur and Austin Flint rumble. ECG showed atrial fibrillation, an incomplete right bundle-branch block, and a left anterior fascicular block. Echocardiography (Figure 2) showed a giant aneurysm of the Valsalva sinus (diameter, 9.8 cm) and a bicuspid aortic valve (Movies I and II in the online-only Data Supplement). A 64-slice computed tomography confirmed the diagnosis of a giant Valsalva sinus aneurysm and bicuspid aortic valve