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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
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
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
An aneurysm is a bulge or ballooning in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms are in the aorta, the main artery that runs from the heart through the chest and abdomen. There are two types of aortic aneurysm:. -Thoracic aortic aneurysms - these occur in the part of the aorta running through the chest. -Abdominal aortic aneurysms - these occur in the part of the aorta running through the abdomen. Most aneurysms are found during tests done for other reasons. Some people are at high risk for aneurysms. It is important for them to get screening, because aneurysms can develop and become large before causing any symptoms Screening is recommended for people between the ages of 65 and 75 if they have a family history, or if they are men who have smoked. Doctors use imaging tests to find aneurysms. Medicines and surgery are the two main treatments. NIH: National Heart, Lung, and Blood Institute.

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

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
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

Diagnosis

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
Egashira T, Shimizu H, Yamada Y, Fukuda K
Int J Cardiovasc Imaging 2014 Oct;30(7):1267-8. Epub 2014 Jun 11 doi: 10.1007/s10554-014-0458-0. PMID: 24916464
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

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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