Loeys-Dietz syndrome (LDS) is a rare genetic cause of stroke associated with connective tissue disorders but is not well known among stroke physicians.¹ The main objectives of this case report are to increase awareness of this condition and to improve stroke prevention at follow-up visits.

A patient with aortic and carotid artery dissection who had undergone 2 major aortic surgeries with mechanical composite graft and treated with full-dose anticoagulation was reevaluated by neurologists due to retinal hypoperfusion symptoms. After musculoskeletal examination, cervical ultrasonography, and computerized tomography angiography, he was referred for whole-genome sequencing.

We found joint hypermobility, skin hyperelasticity, bifid uvula, and combined cervical artery dissections that caused intermittently decreased blood flow in the left ophthalmic artery and an acute asymptomatic embolic stroke. A novel pathogenic variant of LDS type 5 consisting of a heterogeneous nonsense variant c.1044C>A, p.(Cys384*) was found in the TGF-β 3 (TGFB3) gene. Consequently, anticoagulation was intensified, and at 1-year follow-up, the patient's symptoms improved.

This novel genetic variant coupled to the patient's phenotype contributes to the knowledge of genetic causes of stroke. Patients with multiple arterial dissections and musculoskeletal features should be offered genetic testing and be carefully evaluated to avoid further cerebrovascular ischemic lesions.

Loeys-Dietz 综合征 (LDS) 是一种罕见的与结缔组织疾病相关的中风遗传原因，但在中风医生中并不为人所知。¹本病例报告的主要目的是提高对这种情况的认识，并在随访中改善卒中预防。

一名患有主动脉和颈动脉夹层的患者因视网膜低灌注症状而接受了 2 次使用机械复合移植物并接受全剂量抗凝治疗的大主动脉手术，并被神经科医生重新评估。在肌肉骨骼检查、宫颈超声检查和计算机断层扫描血管造影后，他被转诊进行全基因组测序。

我们发现关节过度活动、皮肤过度弹性、悬雍垂裂和颈动脉夹层联合导致左眼动脉血流间歇性减少和急性无症状栓塞性卒中。在 TGF-β 3 (TGFB3) 基因中发现了一种新的 LDS 5 型致病变异，该变异由异质无义变异 c.1044C>A, p.(Cys384*) 组成。因此，加强了抗凝治疗，在 1 年的随访中，患者的症状有所改善。

这种与患者表型相结合的新型遗传变异有助于了解中风的遗传原因。应为患有多处动脉夹层和肌肉骨骼特征的患者提供基因检测并仔细评估以避免进一步的脑血管缺血性病变。