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

Autor:	Liu H; Departments of Cardiology, Erasmus MC, University Medical Center Rotterdam, the Netherlands., IJpma AS; Departments of Pathology, Erasmus MC, University Medical Center Rotterdam, the Netherlands., de Bruin JL; Departments of Vascular Surgery, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Verhagen HJM; Departments of Vascular Surgery, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Roos-Hesselink JW; Departments of Cardiology, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Bekkers JA; Departments of Cardiothoracic Surgery, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Brüggenwirth HT; Departments of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, the Netherlands., van Beusekom HMM; Departments of Cardiology, Erasmus MC, University Medical Center Rotterdam, the Netherlands. Electronic address: h.vanbeusekom@erasmusmc.nl., Majoor-Krakauer D; Departments of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, the Netherlands. Electronic address: d.majoor-krakauer@erasmusmc.nl.
Jazyk:	angličtina
Zdroj:	Journal of vascular surgery [J Vasc Surg] 2024 Oct 26. Date of Electronic Publication: 2024 Oct 26.
DOI:	10.1016/j.jvs.2024.10.067
Abstrakt:	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. (Copyright © 2024. Published by Elsevier Inc.)
Databáze:	MEDLINE
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