Four sibs with arterial tortuosity: description and review of the literature

Am J Med Genet. 1996 Dec 11;66(2):121-8. doi: 10.1002/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.0.CO;2-U.


We described four offspring of a consanguineous couple with arterial tortuosity "syndrome" (ATS). The affected children had extensive arterial involvement although the clinical presentations were quite variable. Clinical manifestations included cutis laxa or soft/thin skin, joint laxity or contractures, and arachnodactyly. Aortic tortuosity and pulmonary artery aneurysms with or without peripheral stenoses were demonstrated in all four sibs. All three males had inguinal hernias. Inconsistent facial anomalies were downslanting palpebral tissues, beaked nose, micrognathia, and high-arched palate. Results of collagen type I and type III biosynthesis studies were normal on skin fibroblasts. Histologic findings on autopsy of one affected child showed arterial changes with disruption of elastic fibers of the media and fragmentation of the internal elastic membrane as well as mucosal and transmural necrosis of the stomach, small bowel, colon, and extensive necrosis of the liver. Coronary artery involvement was also seen in this child as well as biventricular hypertrophy. We conclude that ATS is an autosomal recessive connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints, and other organs.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Angiography
  • Consanguinity*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Vascular Diseases / complications
  • Vascular Diseases / diagnostic imaging
  • Vascular Diseases / genetics*
  • Vascular Diseases / pathology