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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Published in:JACC. Case reports 2022-11, Vol.4 (22), p.1504-1508
Main Authors: Silva-Estrada, Jorge, Cervantes-Barragán, David E., Reyes-de la Cruz, Lorenzo, Meléndez-Ramírez, Gabriela, Meave, Aloha, Alaez-Verson, Carmen
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creator Silva-Estrada, Jorge
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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. )
doi_str_mv 10.1016/j.jaccas.2022.08.020
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title Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
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