本文报告家族性心内膜纤维弹性组织增生症5例,发生于同父母所生的兄弟姊妹之间。 例1 2个月男婴,为第3胎第2产。因气喘、咳嗽1天多,面色灰白,四肢发凉3小时入院。体检:昏迷状态,呼吸浅促,口唇轻度发绀,心界无明显扩大,心率180次,呈奔马律。两肺闻及细湿罗音。经吸氧、强心剂等处理,入院4小时后死亡。 尸检:口唇发绀,双下肢稍有指压凹陷痕迹。心脏:重46.5g(正常约重23g),呈球形,左心室明显扩张,各房室心内膜呈灰白色或乳白色、不向程度的增厚(图1)。镜检:心内膜呈纤维性增厚,Verhoeff This article reports 5 cases of familial endocardial fibroelastosis occurred in the same sibling born between brothers and sisters. Example 1 2-month-old baby boy, 3rd child, 2nd birth. Due to asthma, cough for more than a day, looking pale, cold limbs, 3 hours admitted. Physical examination: unconsciousness, shortness of breath, mild cyanosis of the lips, heart no significant expansion, heart rate 180 times, was galloping. Smell both lungs and wet rales. After oxygen, cardiac and other treatment, died 4 hours after admission. Autopsy: cyanotic lips, lower extremities a little finger pressure depression marks. Heart: weight 46.5g (normal weight about 23g), was spherical, the left ventricle was significantly expanded, the atrioventricular endocardial gray or white, not to the extent of thickening (Figure 1). Microscopic examination: endocardial fibrosis, Verhoeff