KEGG DISEASE: Familial thoracic aortic aneurysm and dissection

DISEASE: Familial thoracic aortic aneurysm and dissection

Entry

H00801                      Disease

Name

Familial thoracic aortic aneurysm and dissection;
Aortic aneurysm familial thoracic type (AAT)

Subgroup

Meester-Loeys syndrome [DS:H02720]

Description

Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta, absence of clinical features of Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial TAAD.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Diseases of arteries or arterioles
   BD50  Aortic aneurysm or dissection
    H00801  Familial thoracic aortic aneurysm and dissection
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00801  Familial thoracic aortic aneurysm and dissection
  nt06528  Calcium signaling
   H00801  Familial thoracic aortic aneurysm and dissection
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00801  Familial thoracic aortic aneurysm and dissection

Pathway

hsa04020

Calcium signaling pathway

hsa04270

Vascular smooth muscle contraction

Network

nt06325 Hormone/cytokine signaling
nt06507 TGFB signaling
nt06528 Calcium signaling

Gene

(AAT3) TGFBR2 [HSA:7048] [KO:K04388]
(AAT4) MYH11 [HSA:4629] [KO:K10352]
(AAT5) TGFBR1 [HSA:7046] [KO:K04674]
(AAT6) ACTA2 [HSA:59] [KO:K12313]
(AAT7) MYLK [HSA:4638] [KO:K00907]
(AAT8) PRKG1 [HSA:5592] [KO:K07376]
(AAT9) MFAP5 [HSA:8076] [KO:K25410]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
(AAT12) THSD4 [HSA:79875] [KO:K23377]

Comment

Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome are described in H00653, H00800, and H00802, respectively. [DS:H00653] [DS:H00800] [DS:H00802]

Other DBs

ICD-11:

BD50.3

ICD-10:

I71.2

OMIM:

607086 607087 610168 132900 609192 611788 613780 615436 616166 617168 617349 619825

Reference

PMID:18544034

Authors

Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H

Title

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.

Journal

Annu Rev Genomics Hum Genet 9:283-302 (2008)
DOI:10.1146/annurev.genom.8.080706.092303

Reference

PMID:20301299

Authors

Milewicz DM, Regalado E

Title

Thoracic Aortic Aneurysms and Aortic Dissections

Journal

GeneReviews (1993)

Reference

PMID:21163914

Authors

Guo DC, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM

Title

Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.

Journal

Circ Cardiovasc Genet 4:36-42 (2011)
DOI:10.1161/CIRCGENETICS.110.958066

Reference

PMID:11511117

Authors

Erbel R, Alfonso F, Boileau C, Dirsch O, Eber B, Haverich A, Rakowski H, Struyven J, Radegran K, Sechtem U, Taylor J, Zollikofer C, Klein WW, Mulder B, Providencia LA

Title

Diagnosis and management of aortic dissection.

Journal

Eur Heart J 22:1642-81 (2001)
DOI:10.1053/euhj.2001.2782

Reference

PMID:16027248 (TGFBR2)

Authors

Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM

Title

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

Journal

Circulation 112:513-20 (2005)
DOI:10.1161/CIRCULATIONAHA.105.537340

Reference

PMID:16444274 (MYH11)

Authors

Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X

Title

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

Journal

Nat Genet 38:343-9 (2006)
DOI:10.1038/ng1721

Reference

PMID:16791849 (TGFBR1)

Authors

Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B

Title

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Journal

Hum Mutat 27:760-9 (2006)
DOI:10.1002/humu.20353

Reference

PMID:17994018 (ACTA2)

Authors

Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM

Title

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Journal

Nat Genet 39:1488-93 (2007)
DOI:10.1038/ng.2007.6

Reference

PMID:21055718 (MYLK)

Authors

Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM

Title

Mutations in myosin light chain kinase cause familial aortic dissections.

Journal

Am J Hum Genet 87:701-7 (2010)
DOI:10.1016/j.ajhg.2010.10.006

Reference

PMID:23910461 (PRKG1)

Authors

Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM

Title

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

Journal

Am J Hum Genet 93:398-404 (2013)
DOI:10.1016/j.ajhg.2013.06.019

Reference

PMID:25434006 (MFAP5)

Authors

Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C

Title

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Journal

Am J Hum Genet 95:736-43 (2014)
DOI:10.1016/j.ajhg.2014.10.018

Reference

PMID:26838787 (LOX)

Authors

Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM

Title

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Journal

Circ Res 118:928-34 (2016)
DOI:10.1161/CIRCRESAHA.115.307130

Reference

PMID:26854927 (FOXE3)

Authors

Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM

Title

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Journal

J Clin Invest 126:948-61 (2016)
DOI:10.1172/JCI83778

Reference

PMID:32855533 (THSD4)

Authors

Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noe B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M

Title

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Journal

Genet Med 23:111-122 (2021)
DOI:10.1038/s41436-020-00947-4

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