Division of Cardiology, Cardiac and Vascular Center, Department of Medicine, Sungkyunkwan University Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon-Si, Republic of Korea.
Heart Lung Circ. 2012 Apr;21(4):215-7. doi: 10.1016/j.hlc.2012.01.001. Epub 2012 Feb 9.
Loeys-Dietz syndrome (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of hypertelorism, bifid uvula or cleft palate, arterial tortuosity and aortic aneurysms. These phenotypic characteristics distinguish LDS from other connective tissue disorders related to transforming growth factor beta-receptor. Patients with LDS have a high risk of aortic dissection or rupture at a younger age and smaller aortic diameters. So, clinical suspicion of LDS followed by genotyping is important to prevent aortic dissection, leading cause of death, by surgical treatment.
Loeys-Dietz 综合征（LDS）是一种罕见的遗传性疾病，呈常染色体显性遗传，由转化生长因子β受体 1 型或 2 型基因突变引起。该疾病的特征是眼距过宽、悬雍垂分叉或腭裂、动脉迂曲和主动脉瘤。这些表型特征将 LDS 与其他与转化生长因子β受体相关的结缔组织疾病区分开来。LDS 患者在年轻时和较小的主动脉直径时，主动脉夹层或破裂的风险较高。因此，临床怀疑 LDS 后进行基因分型对于通过手术治疗预防导致死亡的主动脉夹层很重要。
