For the ptosis with positive fatiguability, differential included ocular myasthenia gravis, Lambert-Eaton myasthenic syndrome, botulism, and Horner’s syndrome. The fatigability was highly suggestive of a disorder of the neuromuscular junction, specifically myasthenia gravis, which was later confirmed by positive serum acetylcholine receptor antibodies.
For the extra transient heart sound near S1, the differential included split S1, S4 gallop, and ejection click (EC). its location (base of the heart) and high pitch (best with diaphragm) were most consistent with EC. ECs may arise from abnormal semilunar valves (e.g. bicuspid aortic valve) or dilated great vessels (aorta and pulmonary trunk). Echocardiography revealed severe dilation of the aortic root 6.2cm, and 4.5cm ascending thoracic aneurysm, which was confirmed by chest computed tomography angiography. The aneurysm met surgical criteria and was urgently repaired.
This case highlights how bedside examination alone uncovered two life-threatening but otherwise unsuspected diagnoses. Careful auscultation can distinguish extra transient sounds near S1: split S1 and S4 are usually heard at the apex, with S4 best detected by the bell; in contrast, ECs are high-pitched and often heard best at the base.