{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T00:31:27Z","timestamp":1787963487443,"version":"build-2784847793"},"reference-count":23,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T00:00:00Z","timestamp":1705190400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Open Access funding provided by Open Access Publishing Fund of Philipps-University Marburg.","award":["no number"],"award-info":[{"award-number":["no number"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: There is a paucity of evidence on people with thoracic aortic aneurysm and dissection. We aimed to determine the prevalence of genetic variants and their associations with phenotypes. Methods: In this cross-sectional single-centre cohort study of consecutive patients who underwent endovascular or open-surgical repair of thoracic aortic aneurysm and dissection, genetic analysis was performed using four-stage Next Generation Sequencing, and findings were confirmed with Sanger sequencing. We collected personal and family history on comorbidities, clinical examination, anthropometrics, skeletal deformities, joint function, and ophthalmological measures. Cardiovascular risk and phenotype scores were calculated. Results: Ninety-five patients were eligible (mean age 54 \u00b1 9 years, 70% males, 56% aortic dissection). One-fifth had a family history of aortic disease. Furthermore, 95% and 54% had a phenotype score of \u22645 and \u22642, respectively. There were no significant differences in the distribution of phenotype characteristics according to age, sex, aortic pathology, or performed invasive procedures. Genetic variants of uncertain significance were detected in 40% of patients, with classic mutations comprising 18% of all variants. We observed no significant association with cardiovascular and phenotype scores but with higher joint function scores (p = 0.015). Conclusion: Genetic variants are highly present in clinically relevant aortic pathologies. Variants appear to play a larger role than previously described. The different variants do not correlate with specific phenotypes, age, pathology, sex, or family history.<\/jats:p>","DOI":"10.3390\/jcm13020461","type":"journal-article","created":{"date-parts":[[2024,1,15]],"date-time":"2024-01-15T07:25:07Z","timestamp":1705303507000},"page":"461","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study"],"prefix":"10.3390","volume":"13","author":[{"given":"Adrian","family":"Mahlmann","sequence":"first","affiliation":[{"name":"Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universit\u00e4t Dresden, 01307 Dresden, Germany"},{"name":"Centre for Vascular Medicine, Clinic of Angiology, St.-Josefs-Hospital, Katholische Krankenhaus Hagen gem. GmbH, 58097 Hagen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesma","family":"Elzanaty","sequence":"additional","affiliation":[{"name":"Department of Medical Physiology, Tanta Faculty of Medicine, Tanta University, Tanta 31527, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2216-7832","authenticated-orcid":false,"given":"Mai","family":"Saleh","sequence":"additional","affiliation":[{"name":"Department of Chest Diseases, Tanta Faculty of Medicine, Tanta University, Tanta 31527, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Irqsusi","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery, Marburg University Hospital, Philipps University of Marburg, 35043 Marburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ardawan","family":"Rastan","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery, Marburg University Hospital, Philipps University of Marburg, 35043 Marburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7798-4365","authenticated-orcid":false,"given":"Jennifer Lynne","family":"Leip","sequence":"additional","affiliation":[{"name":"Northeastern University, Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0406-3319","authenticated-orcid":false,"given":"Christian-Alexander","family":"Behrendt","sequence":"additional","affiliation":[{"name":"Department of Vascular and Endovascular Surgery, Asklepios Clinic Wandsbek, Asklepios Medical School, 20099 Hamburg, Germany"},{"name":"Brandenburg Medical School Theodor Fontane, 16816 Neuruppin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2413-4065","authenticated-orcid":false,"given":"Tamer","family":"Ghazy","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery, Marburg University Hospital, Philipps University of Marburg, 35043 Marburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/s41569-020-00472-6","article-title":"Epidemiology and management of aortic disease: Aortic aneurysms and acute aortic syndromes","volume":"18","author":"Bossone","year":"2020","journal-title":"Nat. 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