| H00801 | |
| H number | H00801 |
| Name | Familial thoracic aortic aneurysm and dissection; Aortic aneurysm familial thoracic type (AAT) |
| 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 |
| Network | nt06528(H00801) 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 PMID:20301299 AUTHORS Milewicz DM, Regalado E TITLE Thoracic Aortic Aneurysms and Aortic Dissections JOURNAL GeneReviews (1993) 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 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 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 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 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 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 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 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 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 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 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 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 |