Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬
Introduction: Cardiovascular involvement in Gaucher disease is infrequent. D409H point mutation has been defined in patients with aortic and mitral valve calcifications. Case Report: In this case report, a 17 year-old girl with Gaucher disease, having homozygous D409H point mutation is presented, wh...
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2011-04-01
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| Series: | Güncel Pediatri |
| Subjects: | |
| Online Access: | http://www.guncelpediatri.com/eng/makale/3153/98/Full-Text |
| _version_ | 1826907136634912768 |
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| author | Ali Baykan Sertaç Hanedan Onan Sadettin Sezer Fatih Kardaş Mustafa Kendirci Duran Arslan Ertuğrul Mavili Kazım Üzüm Nazmi Narin |
| author_facet | Ali Baykan Sertaç Hanedan Onan Sadettin Sezer Fatih Kardaş Mustafa Kendirci Duran Arslan Ertuğrul Mavili Kazım Üzüm Nazmi Narin |
| author_sort | Ali Baykan |
| collection | DOAJ |
| description | Introduction: Cardiovascular involvement in Gaucher disease is infrequent. D409H point mutation has been defined in patients with aortic and mitral valve calcifications. Case Report: In this case report, a 17 year-old girl with Gaucher disease, having homozygous D409H point mutation is presented, who has mitral-aortic valve and aortic calcifications with corneal involvement. Her two siblings also had died according to valvular heart disease. Because of having high cardiovascular surgery risk, she is under enzyme replacement therapy. Conclusion: We aimed to point out the rare but important and vital prognostic cardiovascular involvement associated with corneal opacity and D409H mutation in Gaucher disease. (Journal of Current Pediatrics 2011; 9: 44-6) |
| first_indexed | 2025-02-17T08:59:50Z |
| format | Article |
| id | doaj.art-f89329f48ba148ad8c01a6019ebe5e67 |
| institution | Directory Open Access Journal |
| issn | 1304-9054 |
| language | English |
| last_indexed | 2025-02-17T08:59:50Z |
| publishDate | 2011-04-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Güncel Pediatri |
| spelling | doaj.art-f89329f48ba148ad8c01a6019ebe5e672025-01-02T17:29:27ZengGalenos Publishing HouseGüncel Pediatri1304-90542011-04-01914446Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬Ali BaykanSertaç Hanedan OnanSadettin SezerFatih KardaşMustafa KendirciDuran ArslanErtuğrul MaviliKazım ÜzümNazmi NarinIntroduction: Cardiovascular involvement in Gaucher disease is infrequent. D409H point mutation has been defined in patients with aortic and mitral valve calcifications. Case Report: In this case report, a 17 year-old girl with Gaucher disease, having homozygous D409H point mutation is presented, who has mitral-aortic valve and aortic calcifications with corneal involvement. Her two siblings also had died according to valvular heart disease. Because of having high cardiovascular surgery risk, she is under enzyme replacement therapy. Conclusion: We aimed to point out the rare but important and vital prognostic cardiovascular involvement associated with corneal opacity and D409H mutation in Gaucher disease. (Journal of Current Pediatrics 2011; 9: 44-6)http://www.guncelpediatri.com/eng/makale/3153/98/Full-TextGaucher diseaseheartcalcification |
| spellingShingle | Ali Baykan Sertaç Hanedan Onan Sadettin Sezer Fatih Kardaş Mustafa Kendirci Duran Arslan Ertuğrul Mavili Kazım Üzüm Nazmi Narin Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬ Güncel Pediatri Gaucher disease heart calcification |
| title | Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬ |
| title_full | Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬ |
| title_fullStr | Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬ |
| title_full_unstemmed | Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬ |
| title_short | Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report Case Report¬ |
| title_sort | arcus aorta aortic and mitral valve calcifications in a patient with gaucher s disease homozygous for the d409h mutation case report case report¬ |
| topic | Gaucher disease heart calcification |
| url | http://www.guncelpediatri.com/eng/makale/3153/98/Full-Text |
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