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Aortic aneurysm, familial thoracic 9(AAT9)

MedGen UID:
863805
•Concept ID:
C4015368
•
Disease or Syndrome
Synonym: AAT9
 
Gene (location): MFAP5 (12p13.31)
 
Monarch Initiative: MONDO:0014514
OMIM®: 616166

Definition

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene. [from MONDO]

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
•Concept ID:
C0003706
•
Congenital Abnormality
Abnormally long and slender fingers (spider fingers).
See: Feature record | Search on this feature
Atrial fibrillation
MedGen UID:
445
•Concept ID:
C0004238
•
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
See: Feature record | Search on this feature
Mitral valve prolapse
MedGen UID:
7671
•Concept ID:
C0026267
•
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
See: Feature record | Search on this feature
Thoracic aortic aneurysm
MedGen UID:
56525
•Concept ID:
C0162872
•
Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Aortic tortuosity
MedGen UID:
870555
•Concept ID:
C4025003
•
Anatomical Abnormality
Abnormal tortuous (i.e., twisted) form of the aorta.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Pectus carinatum
MedGen UID:
57643
•Concept ID:
C0158731
•
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Am J Med Genet A 2023 Jan;191(1):37-51. Epub 2022 Oct 3 doi: 10.1002/ajmg.a.62982. PMID: 36189931Free PMC Article
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J, Yang L, Diao Y, Zhou L, Xin Y, Jiang L, Li R, Wang J, Duan W, Liu J
Mol Genet Genomic Med 2021 Oct;9(10):e1800. Epub 2021 Sep 8 doi: 10.1002/mgg3.1800. PMID: 34498425Free PMC Article
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
Hicks KL, Byers PH, Quiroga E, Pepin MG, Shalhub S
J Vasc Surg 2018 Sep;68(3):701-711. Epub 2018 Mar 3 doi: 10.1016/j.jvs.2017.12.023. PMID: 29510914

Recent clinical studies

Etiology

Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.
Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, Jondeau G, Milewicz DM
J Am Coll Cardiol 2022 Aug 30;80(9):857-869. doi: 10.1016/j.jacc.2022.05.054. PMID: 36007983
Inflammasomes in the Pathophysiology of Aortic Disease.
Wortmann M, Peters AS, Erhart P, Körfer D, Böckler D, Dihlmann S
Cells 2021 Sep 15;10(9) doi: 10.3390/cells10092433. PMID: 34572082Free PMC Article
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ
Genet Med 2018 Nov;20(11):1414-1422. Epub 2018 Mar 15 doi: 10.1038/gim.2018.27. PMID: 29543232Free PMC Article

Diagnosis

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *
J Am Heart Assoc 2024 Nov 5;13(21):e036274. Epub 2024 Oct 18 doi: 10.1161/JAHA.124.036274. PMID: 39424426
Metabolic syndrome and the risk of abdominal aortic aneurysm: A nationwide cohort study.
Cho IY, Koo HY, Han K, Lee KN, Cho M, Jin SM, Cho YH, Lee JH, Park YJ, Shin DW
Atherosclerosis 2023 Dec;386:117329. Epub 2023 Oct 9 doi: 10.1016/j.atherosclerosis.2023.117329. PMID: 37839934
Inflammasomes in the Pathophysiology of Aortic Disease.
Wortmann M, Peters AS, Erhart P, Körfer D, Böckler D, Dihlmann S
Cells 2021 Sep 15;10(9) doi: 10.3390/cells10092433. PMID: 34572082Free PMC Article
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ
Genet Med 2018 Nov;20(11):1414-1422. Epub 2018 Mar 15 doi: 10.1038/gim.2018.27. PMID: 29543232Free PMC Article

Therapy

Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China.
Duan Y, Xiong J, Lai Z, Zhong Y, Tian C, Du Z, Luo Z, Yu J, Li W, Xu W, Wang Y, Ding T, Zhong X, Pan M, Qiu Y, Lan X, Chen T, Li P, Liu K, Gao M, Hu Y, Liu Z
Orphanet J Rare Dis 2023 Aug 29;18(1):251. doi: 10.1186/s13023-023-02855-7. PMID: 37644562Free PMC Article
Incidence and risk factors for interval aortic events during staged fenestrated-branched endovascular aortic repair.
Cirillo-Penn NC, Mendes BC, Tenorio ER, Cajas-Monson LC, D'Oria M, Oderich GS, DeMartino RR
J Vasc Surg 2023 Oct;78(4):874-882. Epub 2023 Jun 7 doi: 10.1016/j.jvs.2023.05.049. PMID: 37290733
Clinical outcome of acute thoracic aortic syndrome in nonagenarians.
Arakawa M, Okamura H, Miyagawa A, Kitada Y, Adachi H
Asian Cardiovasc Thorac Ann 2020 Nov;28(9):577-582. Epub 2020 Aug 20 doi: 10.1177/0218492320952654. PMID: 32819152
Endovascular thoracic aortic repair in confirmed or suspected genetically triggered thoracic aortic dissection.
Shalhub S, Eagle KA, Asch FM, LeMaire SA, Milewicz DM; GenTAC Investigators for the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium
J Vasc Surg 2018 Aug;68(2):364-371. Epub 2018 Mar 19 doi: 10.1016/j.jvs.2017.11.095. PMID: 29567025

Prognosis

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators, Milewicz DM, Prakash SK
Am J Hum Genet 2024 Oct 3;111(10):2219-2231. Epub 2024 Sep 2 doi: 10.1016/j.ajhg.2024.08.001. PMID: 39226896Free PMC Article
Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Characterization of syndromic, nonsyndromic familial, and sporadic type B aortic dissection.
Shalhub S, Rah JY, Campbell R, Sweet MP, Quiroga E, Starnes BW
J Vasc Surg 2021 Jun;73(6):1906-1914.e2. Epub 2020 Nov 27 doi: 10.1016/j.jvs.2020.10.080. PMID: 33249204
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ
Genet Med 2018 Nov;20(11):1414-1422. Epub 2018 Mar 15 doi: 10.1038/gim.2018.27. PMID: 29543232Free PMC Article

Clinical prediction guides

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *
J Am Heart Assoc 2024 Nov 5;13(21):e036274. Epub 2024 Oct 18 doi: 10.1161/JAHA.124.036274. PMID: 39424426
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators, Milewicz DM, Prakash SK
Am J Hum Genet 2024 Oct 3;111(10):2219-2231. Epub 2024 Sep 2 doi: 10.1016/j.ajhg.2024.08.001. PMID: 39226896Free PMC Article
Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J, Yang L, Diao Y, Zhou L, Xin Y, Jiang L, Li R, Wang J, Duan W, Liu J
Mol Genet Genomic Med 2021 Oct;9(10):e1800. Epub 2021 Sep 8 doi: 10.1002/mgg3.1800. PMID: 34498425Free PMC Article
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794

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