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

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

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 confirm...

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Veröffentlicht in:World journal for pediatric & congenital heart surgery 2023-01, Vol.14 (1), p.93-95
Hauptverfasser: Brunet-Garcia, Laia, Prada Martínez, Fredy Hermógenes, Sanchez-de-Toledo, Joan, Carretero Bellón, Juan Manuel
Format: Artikel
Sprache:eng
Schlagworte:
Aorta, Thoracic
Dilatation
Humans
Male
Multidrug Resistance-Associated Proteins - genetics
Mutation
Vascular Calcification - complications
Vascular Calcification - diagnostic imaging
Vascular Calcification - surgery
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Zusammenfassung: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.
ISSN:2150-1351
2150-136X
DOI:10.1177/21501351221129188