arterial tortuosity syndrome
Arterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including tortuosity and elongation of the major arteries, often associated with pulmonary artery stenosis, pulmonary hypertension, and skin and joint laxity, suggestive of a connective tissue disorder. ATS is transmitted in an autosomal recessive mode, but the causal gene is unknown.
Synopsis
arterial tortuosity
elongation of the main arteries
severe peripheral stenosis of the main pulmonary artery
soft skin with abundant subcutaneous tissue
joint laxity
hernias
Cell culture
disorganization of fibronectin and actin microfilaments of extracellular matrix in cultured skin fibroblasts
See also
Ehlers-Danlos syndrome (EDS4)