Aortic dissection and cystinosis: is there any relationship?

Cardiol Young. 2017 Sep;27(7):1434-1436. doi: 10.1017/S1047951117000671. Epub 2017 May 11.

Abstract

Cystinosis is a rare, autosomal-recessive genetic disorder. The kidneys are commonly involved, as there is cystinosin protein malfunction, and nephropathic cystinosis ensues. Although cardiac and vascular involvements are rare, we describe a unique case of aortic dissection in a 25-year-old female with cystinosis. We discuss the possible aetiologies of aortic dissection in this condition.

Keywords: Cystinosis; aortic dissection; young adult.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aortic Aneurysm / complications*
  • Aortic Aneurysm / diagnostic imaging
  • Aortic Aneurysm / surgery
  • Aortic Dissection / complications*
  • Aortic Dissection / diagnostic imaging
  • Aortic Dissection / etiology
  • Aortic Dissection / surgery
  • Cystinosis / complications*
  • Cystinosis / genetics
  • Echocardiography
  • Female
  • Humans