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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
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MYLK (3q21.1)
OMIM®: 613780

Authors:
Dianna M Milewicz  |  Ellen Regalado   view full author information

Clinical features

Aortic aneurysm
MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome
A sac formation resulting from the localized dilatation of the wall of the aorta.
Aortic dissection
MedGen UID:
83315
Concept ID:
C0340643
Disease or Syndrome
A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Boodhwani M, Andelfinger G, Leipsic J, Lindsay T, McMurtry MS, Therrien J, Siu SC; Canadian Cardiovascular Society.
Can J Cardiol 2014 Jun;30(6):577-89. Epub 2014 Feb 28 doi: 10.1016/j.cjca.2014.02.018. PMID: 24882528
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article

Recent clinical studies

Etiology

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
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
Qin C, Chen L, Xiao YB
Tissue Antigens 2015 Jan;85(1):10-4. Epub 2014 Nov 23 doi: 10.1111/tan.12448. PMID: 25417718
Li Y, Hu J, Qian H, Gu J, Meng W, Zhang EY
J Renin Angiotensin Aldosterone Syst 2015 Dec;16(4):1130-4. Epub 2014 Sep 17 doi: 10.1177/1470320314549219. PMID: 25237166
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

Diagnosis

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
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
Qin C, Chen L, Xiao YB
Tissue Antigens 2015 Jan;85(1):10-4. Epub 2014 Nov 23 doi: 10.1111/tan.12448. PMID: 25417718
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

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

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
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
Karthekeyan BR, Vakamudi M, Thangavel P
Cardiol Young 2015 Jan;25(1):154-7. Epub 2014 Jan 15 doi: 10.1017/S1047951113002175. PMID: 24423896
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
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

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
Li Y, Hu J, Qian H, Gu J, Meng W, Zhang EY
J Renin Angiotensin Aldosterone Syst 2015 Dec;16(4):1130-4. Epub 2014 Sep 17 doi: 10.1177/1470320314549219. PMID: 25237166
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

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