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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.

Professional guidelines

PubMed

Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Am J Med Genet A 2023 Jan;191(1):37-51. Epub 2022 Oct 3 doi: 10.1002/ajmg.a.62982. PMID: 36189931Free PMC Article
Braverman AC, Harris KM, Kovacs RJ, Maron BJ; American Heart Association Electrocardiography and Arrhythmias Committee of Council on Clinical Cardiology, Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and American College of Cardiology
Circulation 2015 Dec 1;132(22):e303-9. Epub 2015 Nov 2 doi: 10.1161/CIR.0000000000000243. PMID: 26621648
Braverman AC, Harris KM, Kovacs RJ, Maron BJ
J Am Coll Cardiol 2015 Dec 1;66(21):2398-2405. Epub 2015 Nov 2 doi: 10.1016/j.jacc.2015.09.039. PMID: 26542664

Recent clinical studies

Etiology

Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, Jondeau G, Milewicz DM
J Am Coll Cardiol 2022 Aug 30;80(9):857-869. doi: 10.1016/j.jacc.2022.05.054. PMID: 36007983
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Rohde S, Zafar MA, Ziganshin BA, Elefteriades JA
Asian Cardiovasc Thorac Ann 2021 Sep;29(7):682-696. Epub 2020 Jul 20 doi: 10.1177/0218492320943800. PMID: 32689806
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Sakalihasan N, Michel JB, Katsargyris A, Kuivaniemi H, Defraigne JO, Nchimi A, Powell JT, Yoshimura K, Hultgren R
Nat Rev Dis Primers 2018 Oct 18;4(1):34. doi: 10.1038/s41572-018-0030-7. PMID: 30337540

Diagnosis

Krywanczyk A, Rodriguez ER, Tan CD, Gilson T
Am J Forensic Med Pathol 2023 Jun 1;44(2):69-76. Epub 2023 Mar 3 doi: 10.1097/PAF.0000000000000819. PMID: 36877084
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Sakalihasan N, Michel JB, Katsargyris A, Kuivaniemi H, Defraigne JO, Nchimi A, Powell JT, Yoshimura K, Hultgren R
Nat Rev Dis Primers 2018 Oct 18;4(1):34. doi: 10.1038/s41572-018-0030-7. PMID: 30337540
Braverman AC, Harris KM, Kovacs RJ, Maron BJ; American Heart Association Electrocardiography and Arrhythmias Committee of Council on Clinical Cardiology, Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and American College of Cardiology
Circulation 2015 Dec 1;132(22):e303-9. Epub 2015 Nov 2 doi: 10.1161/CIR.0000000000000243. PMID: 26621648

Therapy

Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Luyckx I, Kumar AA, Reyniers E, Dekeyser E, Vanderstraeten K, Vandeweyer G, Wünnemann F, Preuss C, Mazzella JM, Goudot G, Messas E, Albuisson J, Jeunemaitre X, Eriksson P, Mohamed SA, Kempers M, Salemink S, Duijnhouwer A, Andelfinger G, Dietz HC, Verstraeten A, Van Laer L, Loeys BL; MIBAVA Leducq Consortium
Eur J Hum Genet 2019 Jul;27(7):1033-1043. Epub 2019 Feb 28 doi: 10.1038/s41431-019-0364-y. PMID: 30820038Free PMC Article
Shalhub S, Eagle KA, Asch FM, LeMaire SA, Milewicz DM; GenTAC Investigators for the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium
J Vasc Surg 2018 Aug;68(2):364-371. Epub 2018 Mar 19 doi: 10.1016/j.jvs.2017.11.095. PMID: 29567025
Ramlawi B, Little SH, Shah D
Methodist Debakey Cardiovasc J 2011 Jul-Sep;7(3):39-42. doi: 10.14797/mdcj-7-3-39. PMID: 21979126
Yamawaki T, Nagaoka K, Morishige K, Sadamatsu K, Tashiro H, Yasunaga H, Morisaki H, Morisaki T
Intern Med 2009;48(7):555-8. Epub 2009 Apr 1 doi: 10.2169/internalmedicine.48.1833. PMID: 19336958

Prognosis

Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Shalhub S, Rah JY, Campbell R, Sweet MP, Quiroga E, Starnes BW
J Vasc Surg 2021 Jun;73(6):1906-1914.e2. Epub 2020 Nov 27 doi: 10.1016/j.jvs.2020.10.080. PMID: 33249204
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Rohde S, Zafar MA, Ziganshin BA, Elefteriades JA
Asian Cardiovasc Thorac Ann 2021 Sep;29(7):682-696. Epub 2020 Jul 20 doi: 10.1177/0218492320943800. PMID: 32689806
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794

Clinical prediction guides

Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *
J Am Heart Assoc 2024 Nov 5;13(21):e036274. Epub 2024 Oct 18 doi: 10.1161/JAHA.124.036274. PMID: 39424426
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Rohde S, Zafar MA, Ziganshin BA, Elefteriades JA
Asian Cardiovasc Thorac Ann 2021 Sep;29(7):682-696. Epub 2020 Jul 20 doi: 10.1177/0218492320943800. PMID: 32689806
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Yamawaki T, Nagaoka K, Morishige K, Sadamatsu K, Tashiro H, Yasunaga H, Morisaki H, Morisaki T
Intern Med 2009;48(7):555-8. Epub 2009 Apr 1 doi: 10.2169/internalmedicine.48.1833. PMID: 19336958

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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