Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation

Abstract

We report a case of a 40-year-old man who was admitted to our hospital for the evaluation and treatment of chest discomfort on exertion. He had previously been followed for post-natal growth deficiency, strabismus, mental retardation, epilepsy, and moderate mitral regurgitation. On admission, he was 142 cm in height and 42 kg in weight. Physical examination revealed orbital hypertelorism, ptosis, a webbed neck, and low-set ears with no jugular vein dilatation or peripheral edema. Cardiac auscultation showed a 3/6 late systolic murmur and S4. ECG showed normal sinus rhythm, poor R wave progression in the precordial leads, and an incomplete right bundle brunch block. Chest X-ray showed pulmonary congestion and marked cardiomegaly, with a cardio-thoracic ratio of 71%.