Familial Supravalvular Aortic Stenosis: A Report of Two Brothers

家族性主動脈瓣膜上部狹窄：兩兄弟病例報告

吳俊仁(Jiunn-Ren Wu) ； 陳怡慧(Yi-Hui Chen) ； 黃德揚(Teh-Yang Huang)

《The Kaohsiung Journal of Medical Sciences》 12卷2期 (1996/02) Pp. 128-131

https://doi.org/10.6452/KJMS.199602.0128

摘要

主動脈瓣膜上狹窄在國內為罕見之先天性心臟病，此病為昇主動脈縮窄並可合併其分支動脈之嫌窄。本文描述一家庭內兩兄弟到醫院時各為5歲及4歲，因有心臟雜音而住院檢查。理學檢查：臉部外觀正常，沒有小精靈臉，在前胸第三肋間左胸骨緣可聽到3/6度的心縮期噴氣狀雜音並傳送到胸骨上窩及頸部。胸部X光無特殊異常發現。在雙向彩色都卜勒心臟超音波心圖顯出主動脈瓣膜上端狹窄部位。主動脈攝影顯示主動脈瓣膜上部狹窄與超音波所見相同外，並可見其分枝動脈之狹窄，及輕度主脈閉鎖不全。此兩例因目前並無症狀，並不需要接受藥物或外科治療。

關鍵字

supravalvular aortic stenosis ； familial

並列摘要

We studied two brothers in a family with isolated congenital supravalvular aortic stenosis without Williams syndrome. Clinical, echocardiographic, hemodynamic and angiographic features of our cases were described. A severe long, narrowed supravalvular aortic stenosis involving the ascending aorta with proximal narrowing of the aortic branches and mild aortic insufficeiency were found. To the best of our knowledge, this is the first report of this combination of lesions in the Orient.