背景:Loeys-Dietz综合征(LDS)是一种与主动脉根部增大和胸主动脉夹层(AD)风险相关的遗传性结缔组织疾病。基因检查对诊断至关重要。
目的:分析LDS患者心血管受累和管理的临床资料。
方法:这项研究包括LDS相关遗传变异的携带者,在2012年至2022年之间确定。心血管受累的评估基于超声心动图和计算机断层扫描血管造影,并定量评估动脉弯曲。还评估了其他系统的参与情况。我们注意到主要的心血管事件,包括主动脉事件,定义为AD,选择性主动脉手术或其他原因不明的猝死。
结果:包括来自15个家庭的34例患者,五个确定的变体是新的。Probands的平均年龄为41岁。心血管异常,主动脉受累,79%、71%、68%和100%的携带者存在主动脉弯曲和宫颈动脉弯曲,分别。首次主动脉事件(9A型AD,6选择性胸主动脉手术,和1例猝死)发生在16例(47%)患者中,中位年龄为35岁。AD时年龄最小的是16岁,选择性动脉瘤修复术7年。9例和4例患者发生了第二次和第三次主动脉事件,分别。8例患者(24%)发生其他主要心血管事件。存在皮肤纹的主动脉无事件生存期较短(p=0.03),在存在Marfanoid特征的情况下倾向于更短(p=0.06),和更长的TGFB2变体(p=0.06)。
结论:LDS与年轻时心血管并发症的高负担相关。
Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder associated with aortic root enlargement and risk of thoracic aortic dissection (AD). Genetic examination is essential for diagnosis.
The study aimed at analysis of clinical data on cardiovascular involvement and management of LDS patients.
The study included carriers of LDS-associated genetic variants, identified between 2012 and 2022. Assessment of cardiovascular involvement was based on echocardiography and computed tomography angiography with quantitative assessment of arterial tortuosity. Involvement of other systems was also evaluated. We noted major cardiovascular events, including aortic events, defined as AD, elective aortic surgery, or otherwise unexplained sudden death.
Thirty-four patients from 15 families were included, and five identified variants were novel. Probands\' mean age was 41 years. Cardiovascular abnormalities, aortic involvement, aortic tortuosity, and tortuosity of cervical arteries were present in 79%, 71%, 68%, and 100% of carriers, respectively. First aortic events (9 A-type AD, 6 elective thoracic aortic surgeries, and one sudden death) occurred in 16 (47%) patients at a median age of 35 years. The youngest age at AD was 16 years, and 7 years for elective aneurysm repair. Second and third aortic events occurred in 9 and 4 patients, respectively. Eight patients (24%) experienced other major cardiovascular events. Aortic event-free survival was shorter in the presence of skin striae (P = 0.03), tended to be shorter in the presence of Marfanoid features (P = 0.06), and longer with TGFB2 variants (P = 0.06).
LDS is associated with high burden of cardiovascular complications at a young age.