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Aortic aneurysm, familial thoracic 7(AAT7)

MedGen UID:
462427
Concept ID:
C3151077
Disease or Syndrome
Synonyms: AAT7; AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM; MYLK-Related Thoracic Aortic Aneurysms and Aortic Dissections
 
Gene (location): MYLK (3q21.1)
 
Monarch Initiative: MONDO:0013418
OMIM®: 613780

Authors:
Dianna M Milewicz  |  Alana C Cecchi   view full author information

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Aortic aneurysm
MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Aortic rupture
MedGen UID:
8151
Concept ID:
C0003496
Disease or Syndrome
Tearing of the aortic wall generally associated with profuse internal bleeding.
Ascending aortic dissection
MedGen UID:
322966
Concept ID:
C1836653
Disease or Syndrome
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Descending aortic dissection
MedGen UID:
868484
Concept ID:
C4022878
Disease or Syndrome
A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.

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
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
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
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
Seike Y, Minatoya K, Sasaki H, Tanaka H, Itonaga T, Inoue Y, Morisaki H, Morisaki T, Ishibashi-Ueda H, Kobayashi J
Gen Thorac Cardiovasc Surg 2017 Dec;65(12):686-691. Epub 2017 Aug 14 doi: 10.1007/s11748-017-0810-0. PMID: 28808903
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
Karthekeyan BR, Vakamudi M, Thangavel P
Cardiol Young 2015 Jan;25(1):154-7. Epub 2014 Jan 15 doi: 10.1017/S1047951113002175. PMID: 24423896
Hokenek AF, Kinoglu B, Gursoy M, Sirin G, Gulcan F
J Card Surg 2013 Sep;28(5):550-3. Epub 2013 Aug 11 doi: 10.1111/jocs.12182. PMID: 23931724

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

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
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
Karthekeyan BR, Vakamudi M, Thangavel P
Cardiol Young 2015 Jan;25(1):154-7. Epub 2014 Jan 15 doi: 10.1017/S1047951113002175. PMID: 24423896
Hokenek AF, Kinoglu B, Gursoy M, Sirin G, Gulcan F
J Card Surg 2013 Sep;28(5):550-3. Epub 2013 Aug 11 doi: 10.1111/jocs.12182. PMID: 23931724

Clinical prediction guides

Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article
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
Woldendorp K, Starra E, Seco M, Hendel PN, Jeremy RW, Wilson MK, Vallely MP, Bannon PG
Heart Lung Circ 2014 Dec;23(12):1187-93. Epub 2014 Jun 26 doi: 10.1016/j.hlc.2014.06.004. PMID: 25038031

Recent systematic reviews

Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article

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