Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based Review
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 segmen...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-03-01
|
| Series: | Diagnostics |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4418/11/3/446 |
| _version_ | 1797413892427612160 |
|---|---|
| author | Svetlana Encica Adrian Molnar Simona Manole Teodora Filan Simona Oprița Eugen Bursașiu Romana Vulturar Laura Damian |
| author_facet | Svetlana Encica Adrian Molnar Simona Manole Teodora Filan Simona Oprița Eugen Bursașiu Romana Vulturar Laura Damian |
| author_sort | Svetlana Encica |
| collection | DOAJ |
| description | 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–lumbar 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–elastic structural units and mucoid material deposition. Genetic testing found a variant of unknown significance the <i>PRKG1</i> 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 <i>PRKG1</i> mutations. Possible mechanisms involving the renin–angiotensin 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. |
| first_indexed | 2024-03-09T05:25:31Z |
| format | Article |
| id | doaj.art-a645cd0de3c8421db7e50cbe28fa9a50 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T05:25:31Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-a645cd0de3c8421db7e50cbe28fa9a502023-12-03T12:37:13ZengMDPI AGDiagnostics2075-44182021-03-0111344610.3390/diagnostics11030446Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based ReviewSvetlana Encica0Adrian Molnar1Simona Manole2Teodora Filan3Simona Oprița4Eugen Bursașiu5Romana Vulturar6Laura Damian7Department of Pathology, “Niculae Stancioiu” Heart Institute Cluj-Napoca, 19-21, Calea Moților St, 400001 Cluj-Napoca, RomaniaDepartment of Cardiovascular Surgery, “Niculae Stancioiu” Heart Institute Cluj Napoca, 19-21, Calea Moților St, 400001 Cluj-Napoca, RomaniaDepartment of Radiology, “Niculae Stancioiu” Heart Institute 19-21, Calea Moților St, 400001 Cluj-Napoca, RomaniaDepartment of Cardiology, Emergency County Hospital Alba, 23, Revoluției 1989, 510077 Alba-Iulia, RomaniaDepartment of Cardiovascular Surgery, “Niculae Stancioiu” Heart Institute Cluj Napoca, 19-21, Calea Moților St, 400001 Cluj-Napoca, RomaniaDepartment of Radiology, “Niculae Stancioiu” Heart Institute 19-21, Calea Moților St, 400001 Cluj-Napoca, RomaniaDepartment of Molecular Sciences, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca Romania, 6, Pasteur, 400349 Cluj-Napoca, RomaniaCMI Reumatologie Dr. Damian, 6-8 Petru Maior St, 400002 Cluj-Napoca, RomaniaThoracic 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–lumbar 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–elastic structural units and mucoid material deposition. Genetic testing found a variant of unknown significance the <i>PRKG1</i> 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 <i>PRKG1</i> mutations. Possible mechanisms involving the renin–angiotensin 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.https://www.mdpi.com/2075-4418/11/3/446thoracic aortic aneurysm<i>PRKG1</i> mutationPKG-1β isoformhypertensionsmooth muscle cellsscoliosis |
| spellingShingle | Svetlana Encica Adrian Molnar Simona Manole Teodora Filan Simona Oprița Eugen Bursașiu Romana Vulturar Laura Damian Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based Review Diagnostics thoracic aortic aneurysm <i>PRKG1</i> mutation PKG-1β isoform hypertension smooth muscle cells scoliosis |
| title | Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based Review |
| title_full | Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based Review |
| title_fullStr | Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based Review |
| title_full_unstemmed | Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based Review |
| title_short | Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms—A Case-Based Review |
| title_sort | rare causes of arterial hypertension and thoracic aortic aneurysms a case based review |
| topic | thoracic aortic aneurysm <i>PRKG1</i> mutation PKG-1β isoform hypertension smooth muscle cells scoliosis |
| url | https://www.mdpi.com/2075-4418/11/3/446 |
| work_keys_str_mv | AT svetlanaencica rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview AT adrianmolnar rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview AT simonamanole rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview AT teodorafilan rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview AT simonaoprita rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview AT eugenbursasiu rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview AT romanavulturar rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview AT lauradamian rarecausesofarterialhypertensionandthoracicaorticaneurysmsacasebasedreview |