Article
Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy.
World journal for pediatric & congenital heart surgery - 1 Jan 2023
Brunet-Garcia Laia, Prada Martínez Fredy Hermógenes, Sanchez-de-Toledo Joan, Carretero Bellón Juan Manuel
Abstract excerpt
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.
Topics
- Male
- Humans
- Multidrug Resistance-Associated Proteins
- Aorta, Thoracic
- Dilatation
- Vascular Calcification
- Mutation