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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
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).
 
Gene (location): MYLK (3q21.1)
OMIM®: 613780

Disease characteristics

The major cardiovascular manifestations of thoracic aortic aneurysms and aortic dissections (TAAD) include: (1) dilatation of the ascending thoracic aorta at the level of the sinuses of Valsalva or ascending aorta or both; and (2) dissections of the thoracic aorta involving either the ascending (Stanford type A dissections) or descending aorta (Stanford type B). Rarely an aneurysm involving the descending thoracic aorta is observed. Vascular manifestations can be the only findings. In the absence of surgical repair of the ascending aorta, affected individuals typically have progressive enlargement of the ascending aorta leading to an acute aortic dissection. The age of onset and presentation of the aortic disease are highly variable, as are the other vascular diseases and features associated with the aortic disease. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Dianna M Milewicz  |  Ellen Regalado   view full author information

Clinical features

Aortic aneurysm
MedGen UID:
776560
Concept ID:
C2072946
Finding
Aortic dissection
MedGen UID:
427921
Concept ID:
CN002407
Finding
Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.

Professional guidelines

PubMed

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23788249Free PMC Article

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 23931724
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

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. [Epub ahead of print] 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

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. [Epub ahead of print] PMID: 23931724

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