Lamb A S, Johnson W M
Department of Medicine, Dwight David Eisenhower, Army Medical Center, Fort Gordon, Georgia.
Am J Med Genet. 1987 Dec;28(4):873-80. doi: 10.1002/ajmg.1320280412.
A 26-year old white male with Prader-Willi syndrome (PWS) and non-insulin-dependent diabetes mellitus presented with asymptomatic bilateral lower limb swelling. An electrocardiogram was consistent with an inferior wall myocardial infarction of unknown age and a graded exercise test using the Bruce protocol was consistent with inferolateral ischemia. Subsequent cardiac catheterization showed severe, inoperable, three-vessel coronary artery disease. Atherosclerotic coronary artery disease in PWS has been documented only once in the literature, and then only postmortem. This case provides further (and for the first time, premortem) documentation that premature atherosclerotic coronary artery disease may play an important but presently unrecognized role in the morbidity and mortality in PWS.
一名26岁患有普拉德-威利综合征（PWS）和非胰岛素依赖型糖尿病的白人男性，出现双侧下肢无症状肿胀。心电图显示为不明时间的下壁心肌梗死，采用布鲁斯方案的分级运动试验显示为下外侧缺血。随后的心脏导管检查显示患有严重的、无法手术治疗的三支冠状动脉疾病。PWS患者的动脉粥样硬化性冠状动脉疾病在文献中仅被记录过一次，且仅为尸检记录。该病例进一步（且首次在生前）证明，过早发生的动脉粥样硬化性冠状动脉疾病可能在PWS的发病率和死亡率中起重要但目前尚未被认识到的作用。
