Hanukoglu A, Fried D, Somekh E
Clin Pediatr (Phila). 1986 May;25(5):272-5. doi: 10.1177/000992288602500508.
Two related families with 15 children, seven of whom developed endocardial fibroelastosis (EFE) are described. Three of the children died during infancy, and the disease was confirmed in one of them at autopsy. The survivors, two sisters age 5 years and 15 months (Family A) and two sisters age 17 and 14 years (Family B), are now symptomless and show a decrease in left ventricular hypertrophy. The mode of inheritance of EFE in our two families appears to be either autosomal or X-linked dominant with reduced penetrance.
本文描述了两个相关家族，共有15名儿童，其中7名患心内膜弹力纤维增生症（EFE）。3名儿童在婴儿期死亡，其中1名在尸检时确诊患有该病。幸存者为两个姐妹，分别为5岁和15个月大（A家族），以及两个姐妹，分别为17岁和14岁（B家族），她们目前无症状，左心室肥厚有所减轻。我们这两个家族中EFE的遗传模式似乎是常染色体或X连锁显性遗传，但外显率降低。
