Severe Arterial Tortuosity

World J Pediatr Congenit Heart Surg. 2017 Mar;8(2):231-234. doi: 10.1177/2150135116629396. Epub 2016 Jun 23.


Arterial tortuosity syndrome is a rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and aneurysmal formation of the large and middle-sized arteries sometimes associated with stenosis of the pulmonary arteries and/or aorta. We present three cases of severe arterial tortuosity with different manifestations. In two cases, the aortic arch was involved. Angiography showed a very tortuous aortic arch, with many loops and twists and a normal descending aorta. One required operation. The third case presented multiple severe stenoses of both pulmonary arteries with many tortuous segments. Surgical repair consisted of pulmonary artery augmentation utilizing a bovine pericardial patch from hilum to hilum.

Keywords: CHD; aortic arch; genetics; pulmonary arteries; vascular disease.

MeSH terms

  • Animals
  • Aorta, Thoracic / abnormalities*
  • Aorta, Thoracic / diagnostic imaging
  • Aorta, Thoracic / surgery
  • Arteries / abnormalities*
  • Arteries / surgery
  • Cattle
  • Computed Tomography Angiography
  • Female
  • Humans
  • Infant, Newborn
  • Joint Instability / diagnosis*
  • Joint Instability / surgery
  • Male
  • Pericardium / transplantation
  • Pulmonary Artery / abnormalities*
  • Pulmonary Artery / diagnostic imaging
  • Pulmonary Artery / surgery
  • Severity of Illness Index
  • Skin Diseases, Genetic / diagnosis*
  • Skin Diseases, Genetic / surgery
  • Vascular Malformations / diagnosis*
  • Vascular Malformations / surgery
  • Vascular Surgical Procedures / methods*

Supplementary concepts

  • Arterial Tortuosity Syndrome