Cottrill C M, Johnson G L, Noonan J A
Pediatrics. 1987 Mar;79(3):379-81.
Echocardiograms were performed on parents of five infants with Pompe disease (glycogen storage disease, type II). Three of the infants had presented with congestive cardiomyopathy and two with dynamic muscular subaortic stenosis. No heart murmurs were audible in any of the parents of the five infants. The parents of the three infants without left ventricular outflow tract obstruction had normal echocardiographic results, whereas one parent of each of the infants with left ventricular outflow obstruction had asymmetric septal hypertrophy. The association between left ventricular outflow obstruction and parental asymmetric septal hypertrophy suggests that both septal hypertrophy and glycogen storage disease were inherited by these two infants.
对五名患有庞贝病（II型糖原贮积病）婴儿的父母进行了超声心动图检查。其中三名婴儿表现为充血性心肌病，两名表现为动力性肌性主动脉瓣下狭窄。五名婴儿的父母均未闻及心脏杂音。三名无左心室流出道梗阻的婴儿的父母超声心动图结果正常，而有左心室流出道梗阻的婴儿的父母中各有一名存在不对称性室间隔肥厚。左心室流出道梗阻与父母不对称性室间隔肥厚之间的关联表明，这两名婴儿的室间隔肥厚和糖原贮积病均为遗传所得。
