Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery.
JACC Case Rep
; 4(22): 1504-1508, 2022 Nov 16.
Article
en En
| MEDLINE
| ID: mdl-36444188
ABSTRACT
Gaucher type 3C disease with porcelain aorta can cause severe hemodynamic impairment. We report the first case, to our knowledge, of a 13-year-old Mexican girl with a GBA1 homozygous c.1342G>C [p.Asp448His] (commonly known as p.D409H) pathogenic variant who underwent extensive aortic replacement. She has been on enzyme replacement therapy and is alive 5 years after surgery. (Level of Difficulty Intermediate.).
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
JACC Case Rep
Año:
2022
Tipo del documento:
Article
País de afiliación:
México