Loeys-Dietz综合征患者的性别差异：动脉病变和手术干预分析

IF 3.2 2区医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

International journal of cardiology Pub Date : 2025-06-06 DOI:10.1016/j.ijcard.2025.133477

Hussein Abdul Nabi , George Bcharah , Luke Dreher , Hend Bcharah , Mahmoud Abdelnabi , Ramzi Ibrahim , Fares Jamal , Amal Youssef , Linnea M. Baudhuin , Yuxiang Wang , Mayowa A. Osundiji , Fadi E. Shamoun

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引用次数: 0

摘要

背景：Loeys-Dietz综合征（LDS）是一种罕见的结缔组织疾病，由TGFBR1、TGFBR2、TGFB2、TGFB3和SMAD3等基因变异引起，可导致血管异常，如动脉瘤和夹层。本研究探讨了LDS临床表现的性别差异，重点关注合并症、体检结果、血管事件和手术。方法：对亚利桑那州、罗彻斯特和佛罗里达州梅奥诊所94例LDS患者（47男47女）进行回顾性分析。数据收集自图表回顾，包括合并症、体检结果、血管事件和手术。统计学分析采用卡方检验对两组进行比较。结果：在队列中，女性肥胖率较高（23.4 %对8.5 %,p = 0.049），偏头痛发生率较高（44.7 %对21.3 %,p = 0.027）。女性更易发生瘀伤（31.9 %比8.5 %,p = 0.005），而男性更易发生多头畸形（21.3 %比6.4 %,p = 0.036）。男性有更多的动脉瘤和解剖,包括升主动脉(89.4 % 72.3 vs % p = 0.036)和腹主动脉瘤(34 % 10.6 vs % p = 0.006),和动脉瘤在其他位置(63 % 42.6 vs % p = 0.048)。A型和B型主动脉夹层在男性中也更为常见（21.3% % vs. 6.4 %,p = 0.036）。男性有较多的主动脉根置换术（74.5 %对53.2 %），而女性有较多的三尖瓣置换术（19.1 %对2.1 %,p = 0.007）。结论：本研究强调了LDS的显著性别差异，特别是在血管事件和手术干预方面。男性更有可能经历动脉瘤和夹层，并接受主动脉根部置换。这些发现强调了在LDS管理中考虑基于性别因素的重要性。

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Sex-based differences in patients with Loeys-Dietz syndrome: An analysis of arteriopathies and surgical interventions

Background

Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder caused by variants in genes like TGFBR1, TGFBR2, TGFB2, TGFB3, and SMAD3, leading to vascular abnormalities such as aneurysms and dissections. This study examines sex-based differences in the clinical presentation of LDS, focusing on comorbidities, physical exam findings, vascular events, and surgeries.

Methods

A retrospective analysis was conducted on 94 LDS patients (47 males and 47 females) at Mayo Clinic locations in Arizona, Rochester, and Florida. Data were collected from chart reviews, including comorbidities, physical exam findings, vascular events, and surgeries. Statistical analysis included Chi-square tests to compare the two groups.

Results

Among the cohort, females had higher rates of obesity (23.4 % vs. 8.5 %, p = 0.049) and migraines (44.7 % vs. 21.3 %, p = 0.027). Females also had more easy bruising (31.9 % vs. 8.5 %, p = 0.005), while dolichocephaly was more common in males (21.3 % vs. 6.4 %, p = 0.036). Males had more aneurysms and dissections, including ascending aortic (89.4 % vs. 72.3 %, p = 0.036) and abdominal aortic aneurysms (34 % vs. 10.6 %, p = 0.006), and aneurysms in other locations (63 % vs. 42.6 %, p = 0.048). Type A and B aortic dissections were also more common in males (21.3 % vs. 6.4 %, p = 0.036). Males had more aortic root replacements (74.5 % vs. 53.2 %), while females had more tricuspid valve repairs (19.1 % vs. 2.1 %, p = 0.007).

Conclusion

This study highlights significant gender differences in LDS, particularly in vascular events and surgical interventions. Males are more likely to experience aneurysms and dissections and undergo aortic root replacement. These findings stress the importance of considering sex-based factors in LDS management.

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来源期刊

International journal of cardiology 医学-心血管系统

CiteScore

6.80

自引率

5.70%

发文量

758

审稿时长

44 days

期刊介绍： The International Journal of Cardiology is devoted to cardiology in the broadest sense. Both basic research and clinical papers can be submitted. The journal serves the interest of both practicing clinicians and researchers. In addition to original papers, we are launching a range of new manuscript types, including Consensus and Position Papers, Systematic Reviews, Meta-analyses, and Short communications. Case reports are no longer acceptable. Controversial techniques, issues on health policy and social medicine are discussed and serve as useful tools for encouraging debate.