دورية أكاديمية
Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up
| العنوان: | Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up |
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| المؤلفون: | Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD |
| المصدر: | Advanced Ultrasound in Diagnosis and Therapy, Vol 5, Iss 3, Pp 249-253 (2021) |
| بيانات النشر: | Editorial Office of Advanced Ultrasound in Diagnosis and Therapy, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Medical technology LCC:Medicine |
| مصطلحات موضوعية: | echocardiography, marfan syndrome, fbn1 genes, new mutation, Medical technology, R855-855.5, Medicine |
| الوصف: | A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were "mitral myxoid degeneration, chordal rupture, leaflet prolapse, and massive regurgitation". Subsequently, after several years of development, the aortic sinus and ascending aortic aneurysm dilatation appeared and a new gene mutation site G4331A of FBN1 was found by genetic testing in this patient. Whether the new gene mutation site is related to the initial manifestation of the patient's cardiovascular disease with "mitral valve disease" remains to be further verified. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2576-2516 |
| العلاقة: | http://www.journaladvancedultrasound.com:81/fileup/2576-2516/PDF/1630472707273-1791981006.pdfTest; https://doaj.org/toc/2576-2516Test |
| DOI: | 10.37015/AUDT.2021.200070 |
| الوصول الحر: | https://doaj.org/article/edf35f001cb04c22adfb2d650a3a32f7Test |
| رقم الانضمام: | edsdoj.f35f001cb04c22adfb2d650a3a32f7 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 25762516 |
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| DOI: | 10.37015/AUDT.2021.200070 |