Der Kaloustian V M, Ratl H, Malouf J, Hatem J, Slim M, Tomeh A, Khouri J, Kutayli F
Am J Med Genet. 1985 May;21(1):119-22. doi: 10.1002/ajmg.1320210117.
We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot.
我们报告了两名患有法洛四联症和肺动脉瓣闭锁的姐妹。她们在心脏导管插入术和血管造影检查中显示出相同的解剖学特征,并经手术证实,特别是具有相同的支气管循环和肺动脉瓣结构。父母是近亲,且无其他亲属患病史。我们认为这是一种特定的、隐性遗传的法洛四联症类型。