Journal Article

E-279 Angioarchitectural correlation between brain and pulmonary arteriovenous malformations in patients with hemorrhagic hereditary telangiectasia

Kim, H, Conrad, M, Kim, I, Nelson, J, Hyunh, N, Hetts, S, Ahn, S

2025

Overview

PurposeThe aim of this study was to test for associations between angioarchitectural features and between multiplicity of brain arteriovenous malformations (BAVMs) and pulmonary arteriovenous malformations (PAVMs) in patients with hereditary hemorrhagic telangiectasia (HHT), a rare genetic condition that puts patients at risk for multiple visceral AVMs.Materials and MethodsA retrospective study was conducted on HHT patients seen for follow-up between 2014 and 2024 with concurrent brain and pulmonary AVMs, utilizing data from two research databases at an HHT Center of Excellence. Patients were excluded if imaging prior to AVM embolization was inaccessible, and if no brain or pulmonary AVM was present in imaging. Relevant imaging, including chest CTs and cerebral angiograms, were reviewed by medical trainees, interventional radiology faculty, and neurointerventional radiology faculty. Lesion location, size, PAVM type (simple, complex, diffuse, telangiectatic), BAVM border (simple vs diffuse), and other characteristics were collected. In patients with multiple AVMs, the five largest BAVMs and five PAVMs by volume were included in analyses. Linear regressions were performed to identify linear relationships between the number of BAVMs and the number of PAVMs, with chi-squared tests and paired t-tests being performed to identify angioarchitectural correlations between BAVMs and PAVMs.ResultsOut of 91 HHT patients with concurrent brain and pulmonary AVMs, 40 patients met inclusion criteria (14 male, 26 female). On average, patients had 2.78 pulmonary AVMs (SD = 1.53) and 2.08 brain AVMs (SD = 1.25). Of the 83 brain AVMs analyzed, 49 were sharp (59%), 28 were diffuse (34%), and 6 were unscored (7%), and of the 109 pulmonary AVMs analyzed, 71 were simple (65%), 24 were complex (22%), 14 were telangiectatic (12%), and none were diffuse (0%). Of the 40 patients, 29 had the ENG gene mutation (73%), 1 had the ACVRL1 gene mutation (3%), and 10 had unknown gene mutations (25%). The number of pulmonary AVMs had a significant, moderate, positive correlation with the number of brain AVMs, r(38) = .52, p < 0.001. Other angioarchitectural features did not demonstrate correlation between brain and pulmonary AVMs.ConclusionIn patients with HHT and concurrent brain and pulmonary AVMs, multiplicity of brain AVMs and pulmonary AVMs is positively correlated. Future direction includes identification of other potential relationships between brain and pulmonary AVMs, including modifying genes that may confer a risk for AVM multiplicity.DisclosuresI. Kim: None. S. Ahn: None. J. Nelson: None. N. Hyunh: None. H. Kim: 1; C; NIH U54 NS065705. M. Conrad: 1; C; UCSF Innovation Ventures. 2; C; Medtronic. 6; C; HHT Connect Registry. S. Hetts: 1; C; Siemens Medical Solutions USA, Inc, Stryker. 2; C; Imperative Care, Inc, Johnson & Johnson Health Care Systems Inc, Kaneka Pharma America LLC, Medtronic, MicroVention, Inc., Route 92 Medical, Inc.

• Publisher: BMJ Publishing Group LTD
• Subject: Mutation