{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:37:13Z","timestamp":1760146633928,"version":"build-2065373602"},"reference-count":38,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2024,11,26]],"date-time":"2024-11-26T00:00:00Z","timestamp":1732579200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cVictor Babes\u201d University of Medicine and Pharmacy, Timisoara"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Thoracic aortic aneurysms (TAAs) are potentially life-threatening medical conditions, and their etiology involves both genetic and multiple risk factors. Coxiella burnetii endocarditis is one of the most frequent causes of blood culture-negative infective endocarditis (BCNIE) in patients with previous cardiac surgery. Our review aims to emphasize the importance of genetic testing in patients with thoracic aortic aneurysms but also the importance of additional testing in patients with suspected endocarditis whose blood cultures remain negative. The reported case has a history of acute DeBakey type I aortic dissection that developed during her second pregnancy, for which the Bentall procedure was performed at that time. Ten years after the surgery, the patient started developing prolonged febrile syndrome with repeatedly negative blood cultures, the serological tests revealing the presence of an infection with Coxiella burnetii. Considering her family history and the onset of her aortic pathology at a young age, genetic tests were performed, disclosing a missense variant in the actin alpha-2 (ACTA2) gene in heterozygous status. Methods: For a better understanding of both conditions, our research was conducted in two directions: one reviewing the literature on patients with Coxiella burnetii BCNIE and the other focusing on patients who had a familial thoracic aortic aneurysm (FTAA) due to the ACTA2 variant. This review incorporates studies found on PubMed and ResearchGate up to August 2024. Conclusions: BCNIE represents a condition with several diagnostic challenges and may lead to severe complications if timely treatment is not initiated. Also, diagnosing an FTAA requires genetic testing, enabling better follow-up and management.<\/jats:p>","DOI":"10.3390\/jcm13237155","type":"journal-article","created":{"date-parts":[[2024,11,26]],"date-time":"2024-11-26T05:06:53Z","timestamp":1732597613000},"page":"7155","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Dual Challenge: Coxiella burnetii Endocarditis in a Patient with Familial Thoracic Aortic Aneurysm\u2014Case Report and Literature Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Alina-Ramona","family":"Cozlac","sequence":"first","affiliation":[{"name":"Department VI Cardiology-Cardiovascular Surgery, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Advanced Research Center of the Institute for Cardiovascular Diseases, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caius Glad","family":"Streian","sequence":"additional","affiliation":[{"name":"Department VI Cardiology-Cardiovascular Surgery, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Advanced Research Center of the Institute for Cardiovascular Diseases, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marciana Ionela","family":"Boca","sequence":"additional","affiliation":[{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simina","family":"Crisan","sequence":"additional","affiliation":[{"name":"Department VI Cardiology-Cardiovascular Surgery, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Advanced Research Center of the Institute for Cardiovascular Diseases, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihai-Andrei","family":"Lazar","sequence":"additional","affiliation":[{"name":"Department VI Cardiology-Cardiovascular Surgery, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Advanced Research Center of the Institute for Cardiovascular Diseases, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirela-Daniela","family":"Virtosu","sequence":"additional","affiliation":[{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Department VI Cardiology Internal Medicine and Ambulatory Care, Prevention and Cardiovascular Recovery, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy of Timisoara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Doctoral School Medicine-Pharmacy, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adina","family":"Ionac","sequence":"additional","affiliation":[{"name":"Department VI Cardiology-Cardiovascular Surgery, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Advanced Research Center of the Institute for Cardiovascular Diseases, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0173-3617","authenticated-orcid":false,"given":"Raluca Elisabeta","family":"Staicu","sequence":"additional","affiliation":[{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Doctoral School Medicine-Pharmacy, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela-Carmen","family":"Dugaci","sequence":"additional","affiliation":[{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7554-4625","authenticated-orcid":false,"given":"Adela","family":"Emandi-Chirita","sequence":"additional","affiliation":[{"name":"Centre of Genomic Medicine, Genetics Discipline, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy of Timi\u0219oara, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0600-1103","authenticated-orcid":false,"given":"Ana","family":"Lascu","sequence":"additional","affiliation":[{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Department III Functional Sciences\u2014Pathophysiology, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Centre for Translational Research and Systems Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Gaita","sequence":"additional","affiliation":[{"name":"Department VI Cardiology-Cardiovascular Surgery, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Advanced Research Center of the Institute for Cardiovascular Diseases, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constantin-Tudor","family":"Luca","sequence":"additional","affiliation":[{"name":"Department VI Cardiology-Cardiovascular Surgery, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"},{"name":"Institute for Cardiovascular Diseases of Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timisoara, G. Adam Str. No. 13A, 300310 Timisoara, Romania"},{"name":"Advanced Research Center of the Institute for Cardiovascular Diseases, \u201cVictor Babes\u201d University of Medicine and Pharmacy of Timi\u0219oara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1179546817709787","DOI":"10.1177\/1179546817709787","article-title":"The Genetics of Aortopathies in Clinical Cardiology","volume":"11","author":"Goyal","year":"2017","journal-title":"Clin. Med. 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