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Aortic aneurysm, familial thoracic 11, susceptibility to(AAT11)

MedGen UID:
1377970
Concept ID:
C4479235
Finding
Synonym: AAT11
 
Gene (location): FOXE3 (1p33)
 
Monarch Initiative: MONDO:0044301
OMIM®: 617349

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

Clinical features

From HPO
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.
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

Li Z, Zhou C, Tan L, Chen P, Cao Y, Li C, Li X, Yan J, Zeng H, Wang DW, Wang DW
Sci China Life Sci 2017 Jan;60(1):57-65. Epub 2016 Dec 13 doi: 10.1007/s11427-016-0333-3. PMID: 27975164

Diagnosis

Li Z, Zhou C, Tan L, Chen P, Cao Y, Li C, Li X, Yan J, Zeng H, Wang DW, Wang DW
Sci China Life Sci 2017 Jan;60(1):57-65. Epub 2016 Dec 13 doi: 10.1007/s11427-016-0333-3. PMID: 27975164
Guemann AS, Andrieux J, Petit F, Halimi E, Bouquillon S, Manouvrier-Hanu S, Van De Kamp J, Boileau C, Hanna N, Jondeau G, Vaksmann G, Houfflin-Debarge V, Holder-Espinasse M
Cardiol Young 2015 Apr;25(4):712-7. Epub 2014 Jun 16 doi: 10.1017/S1047951114000766. PMID: 24932728

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