Hagerman R J, Synhorst D P
Am J Med Genet. 1984 Jan;17(1):123-31. doi: 10.1002/ajmg.1320170107.
Four patients with the fragile X syndrome including 3 males and one woman, were evaluated for cardiological abnormalities. One patient had an obvious murmur. All 4 were shown to have mitral valve prolapse by echocardiography. Two male patients also demonstrated mild dilatation of the ascending aorta. We recommend thorough cardiological evaluations of all fragile X patients.
对4名脆性X综合征患者(包括3名男性和1名女性)进行了心脏异常评估。1名患者有明显杂音。经超声心动图检查,所有4名患者均显示有二尖瓣脱垂。2名男性患者还表现出升主动脉轻度扩张。我们建议对所有脆性X综合征患者进行全面的心脏评估。