{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:44:09Z","timestamp":1790016249412,"version":"4.0.1"},"reference-count":75,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Thoracic aortic aneurysms may result in dissection with fatal consequences if undetected. A young male patient with no relevant familial history, after having been investigated for hypertension, was diagnosed with an ascending aortic aneurysm involving the aortic root and the proximal tubular segment, associated with a septal atrial defect. The patient underwent a Bentall surgery protocol without complications. Clinical examination revealed dorso\u2013lumbar scoliosis and no other signs of underlying connective tissue disease. Microscopic examination revealed strikingly severe medial degeneration of the aorta, with areas of deep disorganization of the medial musculo\u2013elastic structural units and mucoid material deposition. Genetic testing found a variant of unknown significance the PRKG1 gene encoding the protein kinase cGMP-dependent 1, which is important in blood pressure regulation. There may be genetic links between high blood pressure and thoracic aortic aneurysm determinants. Hypertension was found in FBN1 gene mutations encoding fibrillin and in PRKG1 mutations. Possible mechanisms involving the renin\u2013angiotensin system, the role of oxidative stress, osteopontin, epigenetic modifications and other genes are reviewed. Close follow-up and strict hypertension control are required to reduce the risk of dissection. Hypertension, scoliosis and other extra-aortic signs suggesting a connective tissue disease are possible clues for diagnosis.<\/jats:p>","DOI":"10.3390\/diagnostics11030446","type":"journal-article","created":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T05:03:15Z","timestamp":1614920595000},"page":"446","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms\u2014A Case-Based Review"],"prefix":"10.3390","volume":"11","author":[{"given":"Svetlana","family":"Encica","sequence":"first","affiliation":[{"name":"Department of Pathology, \u201cNiculae Stancioiu\u201d Heart Institute Cluj-Napoca, 19-21, Calea Mo\u021bilor St, 400001 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Molnar","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, \u201cNiculae Stancioiu\u201d Heart Institute Cluj Napoca, 19-21, Calea Mo\u021bilor St, 400001 Cluj-Napoca, Romania"},{"name":"Department of Cardiac and Thoracid Surgery, Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca, 8, Victor Babe\u0219 St, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8492-5777","authenticated-orcid":false,"given":"Simona","family":"Manole","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cNiculae Stancioiu\u201d Heart Institute 19-21, Calea Mo\u021bilor St, 400001 Cluj-Napoca, Romania"},{"name":"Department of Radiology, Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca, 8, Victor Babe\u0219 St, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodora","family":"Filan","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Emergency County Hospital Alba, 23, Revolu\u021biei 1989, 510077 Alba-Iulia, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Opri\u021ba","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, \u201cNiculae Stancioiu\u201d Heart Institute Cluj Napoca, 19-21, Calea Mo\u021bilor St, 400001 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Bursa\u0219iu","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cNiculae Stancioiu\u201d Heart Institute 19-21, Calea Mo\u021bilor St, 400001 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2476-9706","authenticated-orcid":false,"given":"Romana","family":"Vulturar","sequence":"additional","affiliation":[{"name":"Department of Molecular Sciences, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca Romania, 6, Pasteur, 400349 Cluj-Napoca, Romania"},{"name":"Cognitive Neuroscience Laboratory, University Babes-Bolyai, 30, F\u00e2nt\u00e2nele St, 400294 Cluj Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Damian","sequence":"additional","affiliation":[{"name":"CMI Reumatologie Dr. Damian, 6-8 Petru Maior St, 400002 Cluj-Napoca, Romania"},{"name":"Department of Rheumatology, Center for Rare Autoimmune and Autoinflammatory Diseases, Emergency Clinical County Hospital Cluj, 2-4 Clinicilor St, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ccd.22537","article-title":"2010 ACCF\/AHA\/AATS\/ACR\/ASA\/SCA\/SCAI\/SIR\/STS\/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease: Executive Summary","volume":"76","author":"Hiratzka","year":"2010","journal-title":"Catheter. 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