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arterial tortuosity syndrome

Monday 24 January 2005

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)