Horiguchi Y, Yamamoto A, Kamiya T, Arakaki Y, Yazawa K, Fujita T
Department of Pediatrics, National Cardiovascular Center, Kanagawa, Japan.
Jpn Circ J. 1991 Feb;55(2):142-8. doi: 10.1253/jcj.55.142.
Four child patients (1 male and 3 females) with homozygous familial hypercholesterolemia (FH) were examined. They were 4y4m to 9y8m of age on admission. A female patient at age 5y7m on admission had already experienced anginal attacks. Ischemic change was found on exercise ECG in 2 patients. Grade 1/6 to 3/6 (Levine) systolic ejection type murmur was audible in all patients. Cardiac catheterization was carried out in all patients. Supravalvular aortic stenosis was found and so-called atherosclerotic wall thickening was also noticed in 3 of them. Narrowing of the coronary arteries was found in only 1 patient who complained of anginal pain. Supravalvular aortic stenosis was more prevalent than coronary artery disorders in FH children and this lesion was also detected by echocardiography. Therefore, follow-up by echocardiography seems to be very useful in assessing the progression of atherosclerosis in patients with severe hypercholesterolemia.
对4例纯合子家族性高胆固醇血症（FH）患儿（1例男性，3例女性）进行了检查。他们入院时年龄在4岁4个月至9岁8个月之间。1例入院时5岁7个月的女性患者已经经历过心绞痛发作。2例患者运动心电图发现缺血性改变。所有患者均能听到1/6级至3/6级（ Levine分级）收缩期喷射型杂音。所有患者均进行了心导管检查。发现3例患者存在主动脉瓣上狭窄，且有3例还发现了所谓的动脉粥样硬化性管壁增厚。仅1例主诉心绞痛的患者发现冠状动脉狭窄。在FH患儿中，主动脉瓣上狭窄比冠状动脉疾病更常见，并且该病变也可通过超声心动图检测到。因此，超声心动图随访似乎对评估严重高胆固醇血症患者动脉粥样硬化的进展非常有用。
