Arterial Tortuosity Syndrome

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. A recent summary of 16 individuals from 12 families revealed a less severe phenotype than initially described. Tortuosity of the aorta and large arteries was invariably present. Arterial dilation and stenoses were noted as well as a risk for ischemic events. Heterozygous carriers did not show any vascular anomalies.

References:

Coucke PJ et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome Nat Genet. 2006 Apr;38(4): 452-7.

Callewaert, BL et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families Hum Mutat 2008 Jan;29(1): 150-8.