心内膜弹力纤维增生症首先是于1943年发现的。1953年本症被认为是一种原因不明的先天性疾病,心内膜发生弥漫性增厚,多数伴有心肌肥厚并导致早死。1956年心内膜弹力纤维增生症被分类为普通型(伴有其他先天性心脏异常)和少见的原发型(不伴上述心脏异常)。原发型病例中23%有家族因素。本病病因尚不明,说法有三:(1)炎症性的,(2)机械性的,(3)遗传性的。近来的看法是心内膜弹力纤维增生症是一种续发性反应,继发于遗传的心肌病变引起的心肌机能不足,或者继发于先天性心脏畸形伴随严重的血液动力学改变。作者介绍4个家庭均有1名以上的小孩患此病,提示患儿家庭的发病率比隐性遗传所预料者为高。家庭Ⅰ有3个小孩,第1个是女孩,婴儿期即有典型的症状,虽然运动耐受量降低,但在狄高辛维持下仍很好。第2个是女孩,正常。第3个是男孩,在婴儿期有短期典型的症状后死亡,尸体解剖证实为本 Endocardial fibroelastosis was first discovered in 1943. 1953, the disease is considered an unknown cause of congenital diseases, endocardial diffuse thickening, most with cardiac hypertrophy and lead to premature death. 1956 endocardial fibroelastosis is classified as normal type (with other congenital heart abnormalities) and rare primary (without the above heart abnormalities). 23% of primary cases had family factors. The etiology of the disease is not yet clear, there are three versions: (1) inflammatory, (2) mechanical, (3) hereditary. A recent view is that endocardial fibroelastosis is a persistent reaction, myocardial insufficiency secondary to inherited cardiomyopathy, or secondary to congenital heart malformation with severe hemodynamic changes. The author describes the four families have more than one child suffering from the disease, suggesting that the incidence of children with family than recessive genetic expected. Family I has three children, the first one is a girl, which is a typical symptom in infancy. Although exercise tolerance is reduced, it is still good under the maintenance of Digoxin. The second is a girl, normal. The third was a boy who died after typical short-term infantile symptoms and confirmed autopsy