Arterial tortuosity syndrome is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the large and medium-sized arteries with defective elastic fibers of the arterial wall. Other features of this disease are characteristic face and several connective tissue manifestations. It has been speculated that arterial tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport of ascorbate, a cofactor for collagen and elastin hydroxylases, has been proposed recently.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H00919 Arterial tortuosity syndrome
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A
Title
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
