Whole aorta imaging shows increased risk for thoracic aortic aneurysms and dilatations in relatives of abdominal aortic aneurysm patients.

IF 3.9 2区医学 Q1 PERIPHERAL VASCULAR DISEASE Journal of Vascular Surgery Pub Date : 2024-10-26 DOI:10.1016/j.jvs.2024.10.067

Heng Liu, Arne S IJpma, Jorg L de Bruin, Hence J M Verhagen, Jolien W Roos-Hesselink, Jos A Bekkers, Hennie T Brüggenwirth, Heleen M M van Beusekom, Danielle Majoor-Krakauer

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引用次数: 0

Abstract

Objective: For relatives of abdominal aortic aneurysm (AAA) patients, guidelines recommend abdominal imaging aimed at early detection and management of AAA, and do not include screening for thoracic aortic aneurysms (TAA). We aimed to investigate if TAA occur in undiagnosed relatives of AAA patients without a known genetic susceptibility for aneurysms, similar to families with identified genetic susceptibilities for aneurysms like in Marfan and Loeys-Dietz syndrome, where both AAA and TAA occur.

Methods: Relatives of AAA patients were invited for non-contrast whole aorta CT screening. Systematic measurements of the CT scans were used to detect aneurysms and dilatations. Classification into familial and non-familial was based on reported family histories. In addition, aneurysm gene panel testing of AAA index cases was used for the classification of high vs unknown genetic risk (high genetic risk: familial aneurysm or a (likely) pathogenic variant (P/LP) in an aneurysm gene; unknown genetic risk: no family history or P/LP).

Results: Whole aorta imaging of 301 relatives of 115 abdominal aortic aneurysm index-patients with non-contrast CT scans showed a 28-fold increase in thoracic aortic aneurysms in relatives (1.7%, p<0.001 versus the age adjusted population) and a high frequency of thoracic dilatations in 18% of the relatives. Thoracic aneurysms and dilatations in relatives occurred even when index patients were unaware of familial aneurysms. AAA was increased in the relatives compared to the age adjusted population (8%, p<0.001).

Conclusions: An increased risk for thoracic aneurysms and dilatations was detected by whole aorta imaging of relatives of AAA index patients, even when index patients were unaware of familial aneurysms. These results indicate -still unknown- shared genetic susceptibilities for thoracic and abdominal aneurysms. Therefore, imaging of the whole aorta of relatives of all abdominal aneurysm patients, will improve early detection of aortic aneurysms in relatives of all AAA patients.

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全主动脉成像显示，腹主动脉瘤患者亲属患胸主动脉瘤和扩张的风险增加。

目的：对于腹主动脉瘤（AAA）患者的亲属，指南建议进行腹部成像以早期发现和治疗 AAA，但不包括胸主动脉瘤（TAA）筛查。我们的目的是调查在没有已知动脉瘤遗传易感性的 AAA 患者的未确诊亲属中是否会出现 TAA，这与马凡综合征和 Loeys-Dietz 综合征等已确定有动脉瘤遗传易感性的家族相似，后者同时会出现 AAA 和 TAA：方法：邀请 AAA 患者的亲属进行非对比全主动脉 CT 筛查。方法：邀请 AAA 患者的亲属进行非对比全主动脉 CT 筛查，通过 CT 扫描的系统测量来检测动脉瘤和扩张。根据家族病史将患者分为家族性和非家族性。此外，AAA指数病例的动脉瘤基因面板检测也用于划分高遗传风险和未知遗传风险（高遗传风险：家族性动脉瘤或动脉瘤基因中（可能）致病变体（P/LP）；未知遗传风险：无家族史或P/LP）：结果：对 115 名腹主动脉瘤指数患者的 301 位亲属进行了全主动脉成像（非对比 CT 扫描），结果显示亲属中胸主动脉瘤的发病率增加了 28 倍（1.7%，p）：通过对 AAA 指数患者的亲属进行全主动脉成像，发现其患胸主动脉瘤和扩张的风险增加，即使指数患者不知道自己患有家族性动脉瘤。这些结果表明，胸腔动脉瘤和腹腔动脉瘤具有共同的遗传易感性，但这一点仍不为人所知。因此，对所有腹部动脉瘤患者亲属的整个主动脉进行成像，将提高所有 AAA 患者亲属主动脉瘤的早期发现率。

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来源期刊

Journal of Vascular Surgery 医学-外科

CiteScore

7.70

自引率

18.60%

发文量

1469

审稿时长

54 days

期刊介绍： Journal of Vascular Surgery ® aims to be the premier international journal of medical, endovascular and surgical care of vascular diseases. It is dedicated to the science and art of vascular surgery and aims to improve the management of patients with vascular diseases by publishing relevant papers that report important medical advances, test new hypotheses, and address current controversies. To acheive this goal, the Journal will publish original clinical and laboratory studies, and reports and papers that comment on the social, economic, ethical, legal, and political factors, which relate to these aims. As the official publication of The Society for Vascular Surgery, the Journal will publish, after peer review, selected papers presented at the annual meeting of this organization and affiliated vascular societies, as well as original articles from members and non-members.