Ciuffo A A, Cunningham E, Traill T A
J Med Genet. 1985 Aug;22(4):311-3. doi: 10.1136/jmg.22.4.311.
The familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. Familial pulmonary stenosis not occurring as part of a named syndrome or without associated multiple congenital abnormalities is rare. The constellation of pulmonary stenosis, atrial septal defect, and the particular electrocardiogram abnormalities present here is to our knowledge previously unreported. The pattern of inheritance is consistent with an autosomal dominant mode of transmission.
本文报道了一位母亲和两个孩子患有肺动脉狭窄、房间隔缺损以及独特心电图异常的家族关联情况。家族性肺动脉狭窄并非作为特定综合征的一部分出现，也无相关多发先天性异常，这种情况较为罕见。据我们所知，此处所呈现的肺动脉狭窄、房间隔缺损以及特定心电图异常的组合此前未曾报道过。遗传模式符合常染色体显性遗传传递方式。
