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 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. ().
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700068 | PMC |
| http://dx.doi.org/10.1016/j.jaccas.2022.08.020 | DOI Listing |
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