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Aortic elastic fiber disorganization

MedGen UID:
1705418
•Concept ID:
C5139119
•
Pathologic Function
Synonym: Aortic elastic fibre disorganisation
 
HPO: HP:0032085

Definition

Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAortic elastic fiber disorganization

Recent clinical studies

Etiology

Aortic elastic fiber degeneration during acute type a aortic dissection and reverse aortic remodeling.
Chen T, Kholova I, Paavonen T, Mennander A
J Cardiothorac Surg 2024 Feb 9;19(1):80. doi: 10.1186/s13019-024-02577-2. PMID: 38336717Free PMC Article
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S
Circ Genom Precis Med 2020 Dec;13(6):e002971. Epub 2020 Sep 22 doi: 10.1161/CIRCGEN.120.002971. PMID: 32960096Free PMC Article
Histologic Abnormalities of the Ascending Aorta: Effects on Aortic Remodeling after Intracardiac Repair of Tetralogy of Fallot.
Chowdhury UK, Sankhyan LK, Avneesh S, Ray R, Kalaivani M, Hasija S, Chauhan A
Tex Heart Inst J 2020 Apr 1;47(2):86-95. doi: 10.14503/THIJ-17-6279. PMID: 32603461Free PMC Article
Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.
Xu S, Li L, Fu Y, Wang X, Sun H, Wang J, Han L, Wu Z, Liu Y, Zhu J, Sun L, Lan F, He Y, Zhang H
Mol Genet Genomic Med 2020 Jan;8(1):e1041. Epub 2019 Dec 12 doi: 10.1002/mgg3.1041. PMID: 31830381Free PMC Article
Pathogenesis of aortic wall complications in Marfan syndrome.
Grewal N, Gittenberger-de Groot AC
Cardiovasc Pathol 2018 Mar-Apr;33:62-69. Epub 2018 Feb 2 doi: 10.1016/j.carpath.2018.01.005. PMID: 29433109

Diagnosis

Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S
Circ Genom Precis Med 2020 Dec;13(6):e002971. Epub 2020 Sep 22 doi: 10.1161/CIRCGEN.120.002971. PMID: 32960096Free PMC Article
Histologic Abnormalities of the Ascending Aorta: Effects on Aortic Remodeling after Intracardiac Repair of Tetralogy of Fallot.
Chowdhury UK, Sankhyan LK, Avneesh S, Ray R, Kalaivani M, Hasija S, Chauhan A
Tex Heart Inst J 2020 Apr 1;47(2):86-95. doi: 10.14503/THIJ-17-6279. PMID: 32603461Free PMC Article
Quantification of aortic and cutaneous elastin and collagen morphology in Marfan syndrome by multiphoton microscopy.
Cui JZ, Tehrani AY, Jett KA, Bernatchez P, van Breemen C, Esfandiarei M
J Struct Biol 2014 Sep;187(3):242-253. Epub 2014 Jul 30 doi: 10.1016/j.jsb.2014.07.003. PMID: 25086405
Semicarbazide-sensitive amine oxidase in annulo-aortic ectasia disease: relation to elastic lamellae-associated proteins.
Sibon I, Larrieu D, El Hadri K, Mercier N, Fève B, Lacolley P, Labat C, Daret D, Bonnet J, Lamazière JM
J Histochem Cytochem 2004 Nov;52(11):1459-66. doi: 10.1369/jhc.4A6252.2004. PMID: 15505340Free PMC Article
Generalized elastolysis (cutis laxa).
Harris RB, Heaphy MR, Perry HO
Am J Med 1978 Nov;65(5):815-22. doi: 10.1016/0002-9343(78)90801-x. PMID: 707540

Therapy

Histopathological evidence of aortopathy in newborns and infants with Tetralogy of Fallot at the time of the surgical repair.
Fabian O, Gebauer R, Koblizek M, Hornofova L, Janousek J
Cardiovasc Pathol 2019 May-Jun;40:59-64. Epub 2019 Feb 28 doi: 10.1016/j.carpath.2019.02.004. PMID: 30904751
Histopathological abnormalities in the central arteries and veins of Fontan subjects.
Hays BS, Baker M, Laib A, Tan W, Udholm S, Goldstein BH, Sanders SP, Opotowsky AR, Veldtman GR
Heart 2018 Feb;104(4):324-331. Epub 2017 Sep 29 doi: 10.1136/heartjnl-2017-311838. PMID: 28970278

Prognosis

Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S
Circ Genom Precis Med 2020 Dec;13(6):e002971. Epub 2020 Sep 22 doi: 10.1161/CIRCGEN.120.002971. PMID: 32960096Free PMC Article
Histologic Abnormalities of the Ascending Aorta: Effects on Aortic Remodeling after Intracardiac Repair of Tetralogy of Fallot.
Chowdhury UK, Sankhyan LK, Avneesh S, Ray R, Kalaivani M, Hasija S, Chauhan A
Tex Heart Inst J 2020 Apr 1;47(2):86-95. doi: 10.14503/THIJ-17-6279. PMID: 32603461Free PMC Article
Histopathological evidence of aortopathy in newborns and infants with Tetralogy of Fallot at the time of the surgical repair.
Fabian O, Gebauer R, Koblizek M, Hornofova L, Janousek J
Cardiovasc Pathol 2019 May-Jun;40:59-64. Epub 2019 Feb 28 doi: 10.1016/j.carpath.2019.02.004. PMID: 30904751

Clinical prediction guides

Aortic elastic fiber degeneration during acute type a aortic dissection and reverse aortic remodeling.
Chen T, Kholova I, Paavonen T, Mennander A
J Cardiothorac Surg 2024 Feb 9;19(1):80. doi: 10.1186/s13019-024-02577-2. PMID: 38336717Free PMC Article
Histologic and morphologic character of pediatric abdominal aortic developmental coarctation and hypoplasia.
Heider A, Gordon D, Coleman DM, Eliason JL, Ganesh SK, Stanley JC
J Vasc Surg 2022 Aug;76(2):556-563.e4. Epub 2022 Feb 9 doi: 10.1016/j.jvs.2022.01.121. PMID: 35149163
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S
Circ Genom Precis Med 2020 Dec;13(6):e002971. Epub 2020 Sep 22 doi: 10.1161/CIRCGEN.120.002971. PMID: 32960096Free PMC Article
Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.
Xu S, Li L, Fu Y, Wang X, Sun H, Wang J, Han L, Wu Z, Liu Y, Zhu J, Sun L, Lan F, He Y, Zhang H
Mol Genet Genomic Med 2020 Jan;8(1):e1041. Epub 2019 Dec 12 doi: 10.1002/mgg3.1041. PMID: 31830381Free PMC Article
Quantification of aortic and cutaneous elastin and collagen morphology in Marfan syndrome by multiphoton microscopy.
Cui JZ, Tehrani AY, Jett KA, Bernatchez P, van Breemen C, Esfandiarei M
J Struct Biol 2014 Sep;187(3):242-253. Epub 2014 Jul 30 doi: 10.1016/j.jsb.2014.07.003. PMID: 25086405

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