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Aortic aneurysm, familial thoracic 10(AAT10)

MedGen UID:
924785
Concept ID:
C4284414
Disease or Syndrome
Synonym: AAT10
 
LOX (5q23.1)
 
Monarch Initiative: MONDO:0014950
OMIM®: 617168

Definition

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. [from MONDO]

Clinical features

From HPO

Recent clinical studies

Etiology

Kimura N, Aizawa K, Kawahito K, Itagaki R, Yamaguchi A, Misawa Y, Siepe M, Czerny M, Beyersdorf F, Kari FA, Rylski B
Circ J 2019 Jan 25;83(2):285-294. Epub 2018 Dec 22 doi: 10.1253/circj.CJ-18-0969. PMID: 30584230
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Joo HC, Chang BC, Youn YN, Yoo KJ, Lee S
Yonsei Med J 2012 Sep;53(5):915-23. doi: 10.3349/ymj.2012.53.5.915. PMID: 22869473Free PMC Article

Diagnosis

Pan M, Chen S, Wang H, Wu S, Ding Z, Wang Y, Li L, Li Z, Liu Q
Clin Genet 2020 May;97(5):704-711. Epub 2020 Mar 16 doi: 10.1111/cge.13729. PMID: 32154576
Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C
Genet Med 2019 Sep;21(9):2015-2024. Epub 2019 Feb 11 doi: 10.1038/s41436-019-0444-y. PMID: 30739908
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Guemann AS, Andrieux J, Petit F, Halimi E, Bouquillon S, Manouvrier-Hanu S, Van De Kamp J, Boileau C, Hanna N, Jondeau G, Vaksmann G, Houfflin-Debarge V, Holder-Espinasse M
Cardiol Young 2015 Apr;25(4):712-7. Epub 2014 Jun 16 doi: 10.1017/S1047951114000766. PMID: 24932728

Therapy

Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Joo HC, Chang BC, Youn YN, Yoo KJ, Lee S
Yonsei Med J 2012 Sep;53(5):915-23. doi: 10.3349/ymj.2012.53.5.915. PMID: 22869473Free PMC Article

Prognosis

Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C
Genet Med 2019 Sep;21(9):2015-2024. Epub 2019 Feb 11 doi: 10.1038/s41436-019-0444-y. PMID: 30739908
Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article

Clinical prediction guides

Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C
Genet Med 2019 Sep;21(9):2015-2024. Epub 2019 Feb 11 doi: 10.1038/s41436-019-0444-y. PMID: 30739908
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Vrsalovic M, Zeljkovic I, Presecki AV, Pintaric H, Kruslin B
Blood Press 2015;24(4):212-6. Epub 2015 May 2 doi: 10.3109/08037051.2015.1025607. PMID: 25936403

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