2025年 · 第105卷第44期

A 49-year-old male was seen in the emergency department of Liaocheng People's Hospital on August 7, 2022 due to "sudden severe tear-like chest pain after emotional agitation for 1 h". The patient had a 12-year history of hypertension, and the admission physical examination showed a blood pressure of 173/112 mmHg (1 mmHg =0.133 kPa) and a heart rate of 93 beats/min. Transthoracic echocardiography showed aortic sinus dilation and mild to moderate regurgitation of the aortic valve. Multiplanar reconstruction of cardiac CT angiography (Figures 1 and 2) showed linear low-density foci in the aortic sinus wall with free edges (white arrows), ascending aortic intramural hematoma (white arrows) and pericardial effusion (Δ). CT virtual endoscopy (Figure 3) showed a fishmouth-like intimal tear between the left and right aortic sinuses ( ☆ ), the external view of the volume-reproduced 3D post-processed image (Fig. 4) shows that the local tube wall is visible with a band-like mild bulge (). ☆ Based on the imaging findings, the patient is at risk of progression to high-risk complications such as aortic dissection, rupture and cardiac tamponade, and surgical treatment is recommended to prevent deterioration of the condition. The patient then underwent Bentall surgery. Intraoperative exploration confirmed localized intimal tear of the aortic sinus wall, which straddled the left and right sinuses of the aorta and involved the left and right semilunar valves, resulting in leaflet prolapse. The patient was followed up for 2 years, and the patient recovered well without related complications.

The 18-year-old male was seen in the Department of Ophthalmology of Beijing Tongren Hospital because of "4 d occlusion of vision under his left eye". The patient suffered from high myopia in both eyes since childhood, and the equivalent spherical diopter at the time of presentation was-10.0 D for the right eye and-11.0 D for the left eye. History of cleft palate and other systemic diseases denied. The best corrected visual acuity (using a standard logarithmic chart) was 0.4 for the right eye and 0.15 for the left eye. IOP: 14 mmHg (1 mmHg =0.133 kPa) in the right eye and 13 mmHg in the left eye. The anterior segment structure of both eyes was roughly normal. Auborg fundus photography (Figures 1 and 2): membranous degeneration of the vitreous body in both eyes, close adhesion to retinal tissue, and retinal detachment above 10:00~2:00 in the left eye. General physical examination revealed that the elbow and thumb joints of the patient increased mobility. Genetic detection showed that there was heterozygous nonsense mutation c.2794C>T (p.Arg932*) in exon 42 of COL2A1 gene (NM_001844.5), which was classified as pathogenic by American Society of Medical Genetics and Genomics (ACMG) and belonged to a new mutation. Parents and sisters of the patient were all wild type. The patient was clinically diagnosed as rhegmatogenous retinal detachment in the left eye, peripheral retinal degeneration in the left eye, high myopia in both eyes, and Stickler syndrome. After admission, the patient underwent left eye scleral cerclage + external compression + transcleral subretinal fluid discharge, and postoperative retinal repositioning. The right eye underwent laser photocoagulation of peripheral retinal degenerative areas. After 1 year follow-up, the retinal repositioning of the left eye was good, and the laser spot in the peripheral retinal degeneration area of the right eye was visible.