Taysi K, Hartmann A F, Shackelford G D, Sundaram V
Am J Med Genet. 1985 May;21(1):77-85. doi: 10.1002/ajmg.1320210111.
Characteristic radiographic findings of absence of the left pericardium were observed in two relatives who were related to two other individuals with different types of congenital heart defects. Familial occurrence of congenital absence of pericardium has not been reported previously. The strong male sex predilection in the previously reported patients, the segregation pattern of affected individuals in the pedigree presented here, and the presence of two other individuals with multifactorially determined congenital heart defects in the same pedigree suggest multifactorial determination of congenital absence of the left pericardium.
在两名与另外两名患有不同类型先天性心脏缺陷的个体有亲缘关系的亲属中,观察到了左心包缺失的典型影像学表现。此前尚未报道过家族性先天性心包缺失的情况。先前报道的患者中男性明显居多,此处呈现的家系中受累个体的分离模式,以及同一家系中另外两名患有多因素决定的先天性心脏缺陷的个体的存在,提示左心包先天性缺失是由多因素决定的。