Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy

World J Pediatr Congenit Heart Surg. 2023 Jan;14(1):93-95. doi: 10.1177/21501351221129188. Epub 2022 Oct 13.

Abstract

We report a case of massive ascending aortic dilatation in a patient with generalized arterial calcification of infancy (GACI). He was found to carry compound heterozygous mutations in ABCC6 gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both entities.

Publication types

  • Case Reports

MeSH terms

  • Aorta, Thoracic
  • Dilatation
  • Humans
  • Male
  • Multidrug Resistance-Associated Proteins* / genetics
  • Mutation
  • Vascular Calcification* / complications
  • Vascular Calcification* / diagnostic imaging
  • Vascular Calcification* / surgery

Substances

  • Multidrug Resistance-Associated Proteins

Supplementary concepts

  • Arterial calcification of infancy