Angelini A, Calzolari V, Thiene G, Boffa G M, Valente M, Daliento L, Basso C, Calabrese F, Razzolini R, Livi U, Chioin R
Department of Pathology, University of Padua Medical School, Italy.
Am J Cardiol. 1997 Oct 15;80(8):1046-50. doi: 10.1016/s0002-9149(97)00601-2.
A restrictive hemodynamic profile with left ventricular (LV) end-diastolic volume < 100 ml/m2 and LV end-diastolic pressure > 18 mm Hg, in the absence of endomyocardial, pericardial, and specific cardiomyopathy, is a peculiar feature of primary restrictive cardiomyopathy. From 1985 to 1994, 7 hearts of patients who met the above hemodynamic criteria and underwent endomyocardial biopsy because of heart failure, were studied through gross (5 cardiectomies and 2 autopsies), histologic, and electron microscopic investigations. Ages ranged from 9 to 48 years (mean age 29 +/- 13). Four patients (57%) had a positive family history: 2 for hypertrophic and 2 for restrictive cardiomyopathy. Three patterns were identified in the 7 hearts: (1) pure restrictive form in 4 cases with mass/volume ratio 1.2 +/- 0.5 g/ml, ejection fraction 58 +/- 5%, LV end-diastolic volume 67.5 +/- 12.6 ml/m2, LV end-diastolic pressure 26.7 +/- 3.5 mm Hg; (2) hypertrophic-restrictive form in 2 cases with mass/volume ratio 1.5 +/- 0.07 g/ml, ejection fraction 62 +/- 1%, LV end-diastolic volume 69 +/- 10 ml/m2, LV end-diastolic pressure 30 +/- 7 mm Hg; and (3) mildly dilated restrictive form in 1 case with mass/volume ratio 0.9 g/ml, ejection fraction 25%, LV end-diastolic volume 98 ml/m2, LV end-diastolic pressure 40 mm Hg. Histology and electron microscopy disclosed myocardial and myofibrillar disarray and endoperimysial interstitial fibrosis in each pattern. The familial forms suggest the presence of a genetic abnormality. Primary restrictive cardiomyopathy may present with or without hypertrophy and shares similar microscopic pictures with hypertrophic cardiomyopathy. The 2 entities may represent a different phenotypic expression of the same genetic disease.
在没有心内膜、心包和特定心肌病的情况下，左心室舒张末期容积<100 ml/m²且左心室舒张末期压力>18 mmHg的限制性血流动力学特征是原发性限制性心肌病的一个特殊特征。1985年至1994年，对7例符合上述血流动力学标准并因心力衰竭接受心内膜心肌活检的患者的心脏进行了大体（5例心脏切除术和2例尸检）、组织学和电子显微镜检查。年龄范围为9至48岁（平均年龄29±13岁）。4例患者（57%）有家族史：2例为肥厚型心肌病，2例为限制性心肌病。在7颗心脏中发现了三种模式：（1）4例为单纯限制性形式，质量/容积比为1.2±0.5 g/ml，射血分数为58±5%，左心室舒张末期容积为67.5±12.6 ml/m²，左心室舒张末期压力为26.7±3.5 mmHg；（2）2例为肥厚性限制性形式，质量/容积比为1.5±0.07 g/ml，射血分数为62±1%，左心室舒张末期容积为69±10 ml/m²，左心室舒张末期压力为30±7 mmHg；（3）1例为轻度扩张性限制性形式，质量/容积比为0.9 g/ml，射血分数为25%，左心室舒张末期容积为98 ml/m²，左心室舒张末期压力为40 mmHg。组织学和电子显微镜检查显示每种模式均有心肌和肌原纤维排列紊乱以及内膜周间质纤维化。家族性形式提示存在遗传异常。原发性限制性心肌病可能有或没有肥厚表现，并且与肥厚型心肌病有相似的微观图像。这两种实体可能代表同一遗传疾病的不同表型表达。
