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
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author Silva-Estrada, Jorge
Cervantes-Barragán, David E.
Reyes-de la Cruz, Lorenzo
Meléndez-Ramírez, Gabriela
Meave, Aloha
Alaez-Verson, Carmen
author_facet Silva-Estrada, Jorge
Cervantes-Barragán, David E.
Reyes-de la Cruz, Lorenzo
Meléndez-Ramírez, Gabriela
Meave, Aloha
Alaez-Verson, Carmen
author_sort Silva-Estrada, Jorge
collection PubMed
description 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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spelling pubmed-97000682022-11-27 Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery Silva-Estrada, Jorge Cervantes-Barragán, David E. Reyes-de la Cruz, Lorenzo Meléndez-Ramírez, Gabriela Meave, Aloha Alaez-Verson, Carmen JACC Case Rep Case Report 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.) Elsevier 2022-11-16 /pmc/articles/PMC9700068/ /pubmed/36444188 http://dx.doi.org/10.1016/j.jaccas.2022.08.020 Text en © 2022 Published by Elsevier on behalf of the American College of Cardiology Foundation. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Silva-Estrada, Jorge
Cervantes-Barragán, David E.
Reyes-de la Cruz, Lorenzo
Meléndez-Ramírez, Gabriela
Meave, Aloha
Alaez-Verson, Carmen
Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
title Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
title_full Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
title_fullStr Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
title_full_unstemmed Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
title_short Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
title_sort pediatric porcelain aorta secondary to gaucher disease type 3c with successful aortic replacement surgery
topic Case Report
url 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
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