Westwood M, Harris R, Burn J L, Barson A J
Br Heart J. 1975 Oct;37(10):1077-84. doi: 10.1136/hrt.37.10.1077.
Twenty-six cases of endocardial fibroelastosis were collected from three hospitals in Manchester over a ten-year period. Nine cases occurred in 4 families and these are discussed in detail. X-linked recessive inheritance seems likely in one family in which two probable female carriers had subarachnoid haemorrhages. In a second family an apparently normal man produced two children with endocardial fibroelastosis by different mothers suggesting autosomal dominant inheritance with incomplete penetrance. Autosomal recessive inheritance may be involved in the remaining two families but this was not associated with consanguinity. Genetic heterogeneity is evident in endocardial fibroelastosis and the majority of cases occur sporadically. An accurate family history is therefore necessary but it is difficult to give precise recurrence risks in sporadic cases.
在十年期间，从曼彻斯特的三家医院收集了26例心内膜弹力纤维增生症病例。9例发生在4个家庭中，并对这些病例进行了详细讨论。在一个家庭中，两名可能的女性携带者发生了蛛网膜下腔出血，似乎可能是X连锁隐性遗传。在另一个家庭中，一名外表正常的男子与不同母亲生育了两个患有心内膜弹力纤维增生症的孩子，提示为常染色体显性遗传且外显不全。其余两个家庭可能涉及常染色体隐性遗传，但这与近亲结婚无关。心内膜弹力纤维增生症存在明显的遗传异质性，大多数病例为散发性。因此，准确的家族史很有必要，但对于散发性病例，很难给出确切的复发风险。
