{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:55:20Z","timestamp":1760144120198,"version":"build-2065373602"},"reference-count":23,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Open Access Publishing Fund of Philipps-Universit\u00e4t Marburg"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Heritable connective tissue disorders are often accompanied by an increased risk for thoracic aortic aneurysm and dissection (TAAD). Profound knowledge of the underlying pathology may have an impact on individual treatment, systematic follow-up, and early detection by the screening of offspring. The aim of this study, based in a single high-volume tertiary center, was an analysis of the diagnostic validity of histopathologic findings in patients with TAAD due to these findings\u2019 accuracy in diagnosing heritable connective tissue disorders. Methods: Therefore, genetic testing by next-generation sequencing (NGS) was performed to evaluate the correlations. In total, 65 patients with TAAD undergoing surgical treatment before the age of 60 years or with age up to 80 years if they had offspring at the time of the procedure were included in the analysis. Results: In our cohort, no certain correlation of histological findings to the results of genetic diagnostics in patients with clinically relevant aortic pathology could be shown. Patients with histopathologic findings for heritable connective tissue disorder and a positive gene variant were 11.6 years younger than patients without mutation and without histological evidence for connective tissue disorder. Conclusions: Genetic clarification is useful to define the specific genotype of the disease of the aortic wall in the case of non-specific histological characteristics.<\/jats:p>","DOI":"10.3390\/jcm13071838","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T10:03:59Z","timestamp":1711101839000},"page":"1838","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of the Value of Histological Examination for the Prediction of Genetic Thoracic Proximal Aortopathies"],"prefix":"10.3390","volume":"13","author":[{"given":"Adrian","family":"Mahlmann","sequence":"first","affiliation":[{"name":"Department of Internal Medicine III, University Hospital Carl Gustav Carus at Technische Universit\u00e4t, 01307 Dresden, Germany"},{"name":"Centre for Vascular Medicine, Clinic of Angiology, St.-Josefs-Hospital, Katholische Krankenhaus Hagen gem. GmbH, 58097 Hagen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roman N.","family":"Rodionov","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III, University Hospital Carl Gustav Carus at Technische Universit\u00e4t, 01307 Dresden, Germany"},{"name":"University Center for Vascular Medicine, University Hospital Carl Gustav Carus, Technische Universit\u00e4t Dresden, 01307 Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0159-3720","authenticated-orcid":false,"given":"Helmut Karl","family":"Lackner","sequence":"additional","affiliation":[{"name":"Division of Physiology, Otto Loewi Research Center for Vascular Biology, Immunology and Inflammation, Medical University of Graz, 8010 Graz, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Eraqi","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery, Klinikum Bayreuth GmbH, 95445 Bayreuth, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nesma","family":"Elzanaty","sequence":"additional","affiliation":[{"name":"Department of Medical Physiology, Tanta Faculty of Medicine, Tanta University, Tanta 31527, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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, 35037 Marburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1007\/s00108-012-3217-0","article-title":"Aortenaneurysma und dissektion: Epidemiologie, Pathophysiologie und Diagnostik","volume":"54","author":"Baumann","year":"2013","journal-title":"Der Internist"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1053\/j.semtcvs.2021.02.029","article-title":"Incidence and Prevalence of Thoracic Aortic Aneurysms: A Systematic Review and Meta-analysis of Population-Based Studies","volume":"34","author":"Melo","year":"2022","journal-title":"Semin. 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