Liu Heng, IJpma Arne S, de Bruin Jorg L, Verhagen Hence J M, Roos-Hesselink Jolien W, Bekkers Jos A, Brüggenwirth Hennie T, van Beusekom Heleen M M, Majoor-Krakauer Danielle F
Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
J Vasc Surg. 2025 Mar;81(3):557-565.e7. doi: 10.1016/j.jvs.2024.10.067. Epub 2024 Oct 28.
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 patients with AAA 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 AAAs and TAAs occur.
Relatives of patients with AAA were invited for noncontrast whole aorta computed tomography (CT) screening. Systematic measurements of the CT scans were used to detect aneurysms and dilatations. Classification into familial and nonfamilial 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 pathogenic/likely pathogenic (P/LP) in an aneurysm gene; unknown genetic risk: no family history or P/LP).
Whole aorta imaging of 301 relatives of 115 index patients with AAA with noncontrast CT scans showed a 28-fold increase in TAAs in relatives (1.7% [P < .001] vs 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 with the age-adjusted population (8%; P < .001).
An increased risk for thoracic aneurysms and dilatations was detected by whole aorta imaging of relatives of index patients with AAA, 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 patients with AAA.
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检测和管理AAA，并不包括筛查胸主动脉瘤（TAA）。我们旨在调查AAA患者未被诊断的亲属中是否会发生TAA，这些亲属没有已知的动脉瘤遗传易感性，类似于马凡综合征和洛伊迪茨综合征等已确定动脉瘤遗传易感性的家族，在这些家族中AAA和TAA都会发生。
邀请AAA患者的亲属进行非增强全主动脉计算机断层扫描（CT）筛查。利用CT扫描的系统测量来检测动脉瘤和扩张。根据报告的家族病史分为家族性和非家族性。此外，对AAA索引病例进行动脉瘤基因检测，以分类高遗传风险与未知遗传风险（高遗传风险：家族性动脉瘤或动脉瘤基因中的致病/可能致病（P/LP）变异；未知遗传风险：无家族病史或P/LP变异）。
对115例AAA索引患者的301名亲属进行非增强CT全主动脉成像显示，亲属中TAA的发生率增加了28倍（1.7%[P <.001]，与年龄调整后的人群相比），18%的亲属中胸段扩张的频率较高。即使索引患者不知道家族性动脉瘤，其亲属中也会出现胸主动脉瘤和扩张。与年龄调整后的人群相比，亲属中AAA的发生率增加（8%；P <.001）。
通过对AAA索引患者亲属进行全主动脉成像，发现胸主动脉瘤和扩张的风险增加，即使索引患者不知道家族性动脉瘤。这些结果表明胸主动脉瘤和腹主动脉瘤仍存在未知的共同遗传易感性。因此，对所有腹主动脉瘤患者的亲属进行全主动脉成像，将有助于早期发现所有AAA患者亲属中的主动脉瘤。
