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Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery
Jorge Silva-Estrada1, David E Cervantes-Barragán2, Lorenzo Reyes-de la Cruz1
1Pediatric Cardiology Department, High Specialty Central South Hospital, Petróleos Mexicanos, Mexico City, Mexico.
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.).
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