Department of Diagnostic Radiology, Yale-New Haven Medical Center, Box 208042, Tompkins East 2, 333 Cedar St., New Haven, CT 06520-8042, USA.
Pediatr Radiol. 2011 Dec;41(12):1495-504; quiz 1616. doi: 10.1007/s00247-011-2195-z. Epub 2011 Jul 23.
Loeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological manifestations, including arterial tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a more aggressive course than similar disorders, such as Marfan or the vascular subtype of Ehlers-Danlos syndrome, with morbidity and mortality typically resulting from complications of aortic/arterial dissections. Early diagnosis, short-interval follow-up imaging and prophylactic surgical intervention are essential in preventing catastrophic cardiovascular complications. This review focuses on the cardiovascular, neuroradiological and musculoskeletal imaging findings in this disorder and recommendations for follow-up imaging.
Loeys-Dietz 综合征（LDS）是一种日益被认识的常染色体显性遗传性结缔组织疾病，具有独特的放射学表现，包括动脉迂曲/动脉瘤、颅面畸形和骨骼异常。与马凡综合征或埃勒斯-当洛斯综合征的血管亚型等类似疾病相比，LDS 具有更具侵袭性的病程，发病率和死亡率通常源于主动脉/动脉夹层的并发症。早期诊断、短间隔随访影像学检查和预防性手术干预对于预防灾难性心血管并发症至关重要。本综述重点介绍了该疾病的心血管、神经放射学和肌肉骨骼影像学表现以及随访影像学建议。
