Nagata S, Park Y, Minamikawa T, Yutani C, Kamiya T, Nishimura T, Kozuka T, Sakakibara H, Nimura Y
Am Heart J. 1985 Jun;109(6):1317-22. doi: 10.1016/0002-8703(85)90358-8.
Twelve patients of five families with familial hypertrophic cardiomyopathy were examined. Within each family, the older patients showed dilation or diminished contraction of the left ventricle by echocardiography or angiocardiography more frequently than did younger patients. LDH1 fraction (lactic dehydrogenase isoenzyme) and MB-CPK (creatinine phosphokinase isoenzyme) were increased in 7 of 10 patients. Thallium-201 myocardial scintigraphy showed perfusion defect or hypoperfusion in 9 of 10 patient. Eleven cases demonstrated remarkable hypertrophy at the macroscopic level. Marked fibrosis was observed in all 5 of the 11 patients whose histologic findings were obtained. In two necropsy cases, disarray was found throughout the right and left ventricles and the pattern of fibrosis was massive. These findings were different from those of ordinary hypertrophic cardiomyopathy. It is possible that each patient with familial hypertrophic cardiomyopathy may develop more prominent thallium and enzyme abnormalities as he becomes older, regardless of whether he develops a dilated cardiomyopathy picture.
对5个患有家族性肥厚型心肌病家庭的12名患者进行了检查。在每个家庭中，通过超声心动图或心血管造影检查发现，年长患者左心室扩张或收缩减弱的情况比年轻患者更为常见。10名患者中有7名的乳酸脱氢酶同工酶（LDH1）和肌酸磷酸激酶同工酶（MB-CPK）升高。10名患者中有9名经铊-201心肌闪烁显像显示灌注缺损或灌注不足。11例在宏观层面表现出明显的肥厚。在获取组织学检查结果的11名患者中的5名中均观察到明显的纤维化。在2例尸检病例中，左右心室均发现排列紊乱，且纤维化呈大片状。这些发现与普通肥厚型心肌病不同。家族性肥厚型心肌病的每位患者随着年龄增长，无论是否发展为扩张型心肌病，都可能出现更明显的铊和酶异常。
