KEGG   DISEASE: H00801Help
H00801                      Disease                                

Familial thoracic aortic aneurysm and dissection (TAAD);
Aortic aneurysm familial thoracic type (AAT)
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.
Cardiovascular disease
BRITE hierarchy
Vascular smooth muscle contraction
MAPK signaling pathway
Calcium signaling pathway
Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Focal adhesion
Adherens junction
Tight junction
Regulation of actin cytoskeleton
(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]
Computed tomography (CT)
Magnetic resonance imaging (MRI)
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
Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
Annu Rev Genomics Hum Genet 9:283-302 (2008)
Milewicz DM, Regalado E
Thoracic Aortic Aneurysms and Aortic Dissections
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
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
Circ Cardiovasc Genet 4:36-42 (2011)
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
Diagnosis and management of aortic dissection.
Eur Heart J 22:1642-81 (2001)

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