Ascending aortic aneurysm and histopathology in Alport syndrome: a case report
Abstract Background Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and wherea...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-10-01
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| Series: | BMC Nephrology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12882-023-03345-5 |
| _version_ | 1827724025094209536 |
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| author | Ali Kamiar Qusai Alitter Jose M. C. Capcha Ali Saad Keith A. Webster Lina A. Shehadeh |
| author_facet | Ali Kamiar Qusai Alitter Jose M. C. Capcha Ali Saad Keith A. Webster Lina A. Shehadeh |
| author_sort | Ali Kamiar |
| collection | DOAJ |
| description | Abstract Background Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage. Case presentation Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor. Conclusions The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association. |
| first_indexed | 2024-03-10T22:09:03Z |
| format | Article |
| id | doaj.art-17977fde255048d8882e403225b33b87 |
| institution | Directory Open Access Journal |
| issn | 1471-2369 |
| language | English |
| last_indexed | 2024-03-10T22:09:03Z |
| publishDate | 2023-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj.art-17977fde255048d8882e403225b33b872023-11-19T12:39:41ZengBMCBMC Nephrology1471-23692023-10-012411610.1186/s12882-023-03345-5Ascending aortic aneurysm and histopathology in Alport syndrome: a case reportAli Kamiar0Qusai Alitter1Jose M. C. Capcha2Ali Saad3Keith A. Webster4Lina A. Shehadeh5Department of Medicine, Division of Cardiology, University of Miami Leonard M. Miller School of MedicineInterdisciplinary Stem Cell Institute, University of Miami Leonard M. Miller School of MedicineDepartment of Medicine, Division of Cardiology, University of Miami Leonard M. Miller School of MedicineDepartments of Pathology and Pediatrics, University of Miami Leonard M. Miller School of MedicineIntegene International Holdings, LLCDepartment of Medicine, Division of Cardiology, University of Miami Leonard M. Miller School of MedicineAbstract Background Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage. Case presentation Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor. Conclusions The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.https://doi.org/10.1186/s12882-023-03345-5Alport syndromeAscending aortic aneurysmKidney dysfunctionAneurysm repairHypertensionAscending aortic histopathology |
| spellingShingle | Ali Kamiar Qusai Alitter Jose M. C. Capcha Ali Saad Keith A. Webster Lina A. Shehadeh Ascending aortic aneurysm and histopathology in Alport syndrome: a case report BMC Nephrology Alport syndrome Ascending aortic aneurysm Kidney dysfunction Aneurysm repair Hypertension Ascending aortic histopathology |
| title | Ascending aortic aneurysm and histopathology in Alport syndrome: a case report |
| title_full | Ascending aortic aneurysm and histopathology in Alport syndrome: a case report |
| title_fullStr | Ascending aortic aneurysm and histopathology in Alport syndrome: a case report |
| title_full_unstemmed | Ascending aortic aneurysm and histopathology in Alport syndrome: a case report |
| title_short | Ascending aortic aneurysm and histopathology in Alport syndrome: a case report |
| title_sort | ascending aortic aneurysm and histopathology in alport syndrome a case report |
| topic | Alport syndrome Ascending aortic aneurysm Kidney dysfunction Aneurysm repair Hypertension Ascending aortic histopathology |
| url | https://doi.org/10.1186/s12882-023-03345-5 |
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