儿科洛伊斯-迪茨综合征患者的动脉曲

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Laia Brunet-Garcia^1,2, Pirasuja Prabaharan¹, Luc Bruyndonckx^1,3

¹Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK.

American journal of medical genetics. Part A

|November 2, 2023

概括

患有TGFBR2变异的洛伊斯-迪茨综合征 (LDS) 患者的动脉扭曲指数 (TI) 比患有TGFB2变异的患者高. 增加的TI与大动脉根扩张相关,有助于儿科LDS的预后.

科学领域:

遗传学是一个遗传学.
心脏病学心脏病学
放射学放射学是指放射学

背景情况:

洛伊斯-迪茨综合征 (LDS) 是一种遗传性结缔组织疾病,其特征是大动脉动脉瘤和动脉曲.
早期诊断和风险分层对于管理儿科LDS患者至关重要.

研究的目的:

研究小儿LDS患者动脉曲指数 (TI) 的基因型特异性差异.
评估TI随时间推移的进展及其作为预后工具的实用性.
为了进行手术规划,将TI与大动脉尺寸相关联.

主要方法:

儿科LDS患者的回顾性观察研究 (2012年11月至2021年2月).
使用磁共振血管学 (MRA) 用3D最大强度投影测量动脉TI.
分析基因型 (TGFBR2与TGFB2) 之间的TI差异,以及与大动脉根z分数的相关性.

主要成果:

所有患者都表现出动脉曲.
与TGFB2变异患者相比,TGFBR2变异患者的TI值显著更高 (p=0.041).
在非手术治疗的患者中,脊椎TI与Valsalva z-score 的大动脉鼻有显著的相关性 (r=0.547).
随着时间的推移,TI的下降表明,神经成像随访的频率可能会降低.

结论:

TGFBR2变体与LDS中较大的动脉形有关.
动脉TI作为一个有价值的辅助预后工具,与大动脉根尺寸相关.
信息技术动态可能会为监控策略提供信息,但为了确定风险分层,需要进一步研究.

关键词:

洛伊斯 - 迪茨综合征 (Loeys-Dietz综合征) 是一种大动脉扩张的扩张动脉曲症是一种动脉曲症.计算机断层扫描血管图谱磁共振血管学磁共振血管学儿科人口中的儿科人口.

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