Raisher B D, Dowton S B, Grant J W
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Am J Med Genet. 1991 Jul 1;40(1):105-6. doi: 10.1002/ajmg.1320400122.
Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease which, without surgical treatment, has a high mortality in the first year of life. Reports of familial recurrence of TAPVC have involved sibs, first cousins, and twins. This is the first report of TAPVC in a father and his 2 children. The implications for genetic counseling to families with this anomaly and individuals reaching adulthood after repair of TAPVC are considered.
完全性肺静脉异位连接（TAPVC）是一种罕见的青紫型先天性心脏病，若不进行手术治疗，在出生后第一年死亡率很高。关于TAPVC家族复发的报道涉及同胞、一级表亲及双胞胎。本文首次报道了一位父亲及其两个孩子患TAPVC的情况。文中还考虑了对患有这种异常疾病的家庭以及TAPVC修复后成年个体进行遗传咨询的意义。
