Ascending aortic aneurysm and histopathology in Alport syndrome: a case report

BMC Nephrology

Case Report

Lina A. Shehadeh¹  Ali Kamiar¹  Jose M. C. Capcha¹  Ali Saad²  Keith A. Webster³  Qusai Alitter⁴ 

[1] Department of Medicine, Division of Cardiology, University of Miami Leonard M. Miller School of Medicine, Miami, Fl, United States;Interdisciplinary Stem Cell Institute, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States;Departments of Pathology and Pediatrics, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States;Integene International Holdings, LLC, Miami, FL, United States;Baylor College of Medicine, Houston, TX, United States;Everglades BioPharma, Houston, TX, United States;Interdisciplinary Stem Cell Institute, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States;

关键词: Alport syndrome;    Ascending aortic aneurysm;    Kidney dysfunction;    Aneurysm repair;    Hypertension;    Ascending aortic histopathology;   

DOI  :  10.1186/s12882-023-03345-5

 received in 2023-07-03, accepted in 2023-09-22,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundAlport 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 presentationHere, 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.ConclusionsThe studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

【 图 表 】

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