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Aortic aneurysm, familial thoracic 10(AAT10)

MedGen UID:
924785
Concept ID:
C4284414
Disease or Syndrome
Synonym: AAT10
 
Gene (location): LOX (5q23.1)
 
Monarch Initiative: MONDO:0014950
OMIM®: 617168

Definition

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. [from MONDO]

Clinical features

From HPO
Coronary artery atherosclerosis
MedGen UID:
3623
Concept ID:
C0010054
Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Abdominal aortic aneurysm
MedGen UID:
56524
Concept ID:
C0162871
Anatomical Abnormality
An abnormal localized widening (dilatation) of the abdominal aorta.
Thoracic aortic aneurysm
MedGen UID:
56525
Concept ID:
C0162872
Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
Ascending tubular aorta aneurysm
MedGen UID:
163631
Concept ID:
C0856747
Anatomical Abnormality
An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
Aortic arch aneurysm
MedGen UID:
852900
Concept ID:
C0856748
Anatomical Abnormality
An abnormal localized widening (dilatation) of the aortic arch.
Aortic root aneurysm
MedGen UID:
720712
Concept ID:
C1298820
Anatomical Abnormality
An abnormal localized widening (dilatation) of the aortic root.
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.
Fusiform ascending tubular aorta aneurysm
MedGen UID:
1634425
Concept ID:
C4703458
Disease or Syndrome
A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.
Disproportionate tall stature
MedGen UID:
323048
Concept ID:
C1836996
Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Dural ectasia
MedGen UID:
377094
Concept ID:
C1851712
Finding
A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Striae distensae
MedGen UID:
57541
Concept ID:
C0152459
Acquired Abnormality
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Recent clinical studies

Etiology

Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
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

Diagnosis

Pan M, Chen S, Wang H, Wu S, Ding Z, Wang Y, Li L, Li Z, Liu Q
Clin Genet 2020 May;97(5):704-711. Epub 2020 Mar 16 doi: 10.1111/cge.13729. PMID: 32154576
D'Souza RS, Slavov D, Graw S, Jirikowic J, Todd E, Rogers RK, Taylor MR
Int Angiol 2017 Oct;36(5):417-427. Epub 2017 Jan 31 doi: 10.23736/S0392-9590.17.03757-9. PMID: 28139901
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
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

Therapy

Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
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

Huang B, Chen Z, Lu H, Zhao Z, Hui R, Yang Y, Fan X
Int Heart J 2019 Nov 30;60(6):1373-1380. Epub 2019 Oct 31 doi: 10.1536/ihj.18-532. PMID: 31666449
Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
D'Souza RS, Slavov D, Graw S, Jirikowic J, Todd E, Rogers RK, Taylor MR
Int Angiol 2017 Oct;36(5):417-427. Epub 2017 Jan 31 doi: 10.23736/S0392-9590.17.03757-9. PMID: 28139901
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
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

Clinical prediction guides

Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C
Genet Med 2019 Sep;21(9):2015-2024. Epub 2019 Feb 11 doi: 10.1038/s41436-019-0444-y. PMID: 30739908
Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB
J Cardiovasc Transl Res 2017 Aug;10(4):423-432. Epub 2017 May 26 doi: 10.1007/s12265-017-9753-1. PMID: 28550590Free PMC Article
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
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

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