Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery

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....

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Detalles Bibliográficos
Autores principales: Silva-Estrada, Jorge, Cervantes-Barragán, David E., Reyes-de la Cruz, Lorenzo, Meléndez-Ramírez, Gabriela, Meave, Aloha, Alaez-Verson, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700068/
https://www.ncbi.nlm.nih.gov/pubmed/36444188
http://dx.doi.org/10.1016/j.jaccas.2022.08.020
Descripción
Sumario: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.)

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