Holt-Oram症候羣是一種體染色體顯性遺傳疾病,合併有上肢及心臟異常。常見的心臟血管異常為第二型心房中膈缺損或心室中膈缺損。本篇報告兩例屬突變,合併罕見心臟異常;一例為冠狀靜脈竇缺損之心房中膈缺損(unroofing coronary sinus)合併Wolff-Parkinson-White氏症候羣;另一例為法洛氏四重症合併心房中膈缺損(Pentalogy of Fallot)。
The Holt-Oram syndrome is a hereditary disease which associated with upper limbs anomalies and cardiac defects such as secundum type atrial septal defect. Two cases of this syndrome with unusual cardiac findings are reported: One has an unroofing coronary sinus type atrial septal defect and preexcitation syndrome, the other has pentalogy of Fallot.