Tetralogy of Fallot with pulmonary atresia in siblings.
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.
D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011664:Pulmonary Valve / Q000002:abnormalities*; D013771:Tetralogy of Fallot / Q000235:genetics*