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An Unusual Cardiac Malformation in Holt-Oram Syndrome-A Case Report
Holt-Oram症候群之罕見心臟異常－一病例報告
摘要
Holt-Oram症候群是一種體染色體顯性遺傳疾病，其特徵為上肢骨骼異常且常合併先天性心臟病。我們報告一男嬰其有上肢畸型且合併心室中膈缺損及主動脈狹窄，此先天性心臟病在Holt-Oram症候群中乃屬罕見。在此我們將本病例之臨床特徵作一探討，並將有關文獻做一複習。
並列摘要
The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects. We report a male infant with upper limb malformations, cardiac ventricular defect and aortic coarctation. This congenital heart disease is an unusual cardiac finding in association with Holt-Oram syndrome. The clinical characteristics of our case are discussed and literature is reviewed.
延伸閱讀
- Wu, J. M., Young, M. L., Wang, T. R., Lin, S. J., Chang, J. K., & Wei, J. (1991). Holt-Oram症候羣的罕見心臟異常：二病例報告. Acta Paediatrica Sinica, 32(2), 100-104. https://www.airitilibrary.com/Article/Detail?DocID=00016578-199104-32-2-100-104-a
- Chang, Y. C., Wu, J. M., Lin, S. J., & Wu, M. H. (1995). Ellis-van Creveld症候群合併單心房及Ebstein's異常：一病例報告. Acta Paediatrica Sinica, 36(1), 50-52. https://doi.org/10.7097/APS.199502.0050
- 顏宗弦、胡克信（1997）。Kartagener氏症候群－病例報告。中華民國耳鼻喉科醫學會雜誌，32(5)，450-454。https://doi.org/10.6286/1997.32.5.450
- Chen, C. W., Tsai, L. M., & Chen, J. H. (2002). 左心室假性瘤合併心絞痛-主動脈瓣膜置換之罕見併發症 － 一病例報告. 慈濟醫學雜誌, 14(5), 325-328. https://doi.org/10.6440/TZUCMJ.200210.0325
- Young, T. Y., Lin, T. M., Huang, P. C., Ueng, K. C., Lin, C. S., Wu, D. J., & Lin, M. C. (2005). 不尋常多房性心臟黏液瘤引起之暈厥及中風－病例報告. Acta Cardiologica Sinica, 21(3), 158-163. https://www.airitilibrary.com/Article/Detail?DocID=10116842-200509-21-3-158-163-a