Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta
The case presents the challenges in the treatment of cardiovascular complications in patients with Gaucher disease and demonstrates the importance of individualized treatment approaches, as well as the potential advantages and complications of TAVI in difficult situations like this.
Authors
- Ebru Aypar (ORCID: https://orcid.org/0000-0003-1371-8399)
- Hülya Demır (ORCID: https://orcid.org/0000-0001-9271-7639)
- Hayriye Hızarcıoğlu Gülşen (ORCID: https://orcid.org/0000-0003-1181-7393)
- İlker Ertuğrul (ORCID: https://orcid.org/0000-0002-6607-0568)
- Musa Öztürk (ORCID: https://orcid.org/0000-0003-4316-2002)
- Ergün Barış Kaya (ORCID: https://orcid.org/0000-0002-4424-3704)
- Murat Güvener (ORCID: https://orcid.org/0000-0003-4543-9781)
Institutions
- Hacettepe University Hospital (TR)
- Hacettepe University (TR)
Publication Details
- Journal
- The Turkish Journal of Pediatrics
- Published
- 2024-11-11
- DOI
- https://doi.org/10.24953/turkjpediatr.2024.5206
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33