Chitayat D, McIntosh N, Fouron J C
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Am J Med Genet. 1992 Feb 1;42(3):304-6. doi: 10.1002/ajmg.1320420308.
We report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities. Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may, in some cases, be an autosomal recessive trait.
我们报告了2例患有右心发育不全和肺动脉闭锁的姐妹。第一个姐妹在出生后被发现患有肺动脉闭锁、室间隔完整和右心发育不全。第二次怀孕22周时的胎儿超声心动图显示了相同的心脏异常。胎儿尸检结果证实了超声心动图的发现。两例均未检测到其他畸形，也未发现其他受影响的亲属。我们认为，这种罕见的先天性心脏缺陷在某些情况下可能是常染色体隐性性状。
