Fitzpatrick A P, Shapiro L M, Rickards A F, Poole-Wilson P A
National Heart Hospital, London.
Br Heart J. 1990 Feb;63(2):114-8. doi: 10.1136/hrt.63.2.114.
Five generations of an Italian family with an autosomal dominant restrictive cardiomyopathy are described. Members of four generations were examined. Symptoms usually developed in the third or fourth decade but the disease did occur in childhood. Initially the condition was characterised by normal ventricular size and systolic function with increased diastolic filling pressures in both ventricles and consequent bi-atrial enlargement. Cardiac catheterisation showed a left ventricular filling pattern of "dip and plateau". The electrocardiogram typically showed non-specific changes in the ST segment and T wave and changes indicating considerable atrial enlargement, which were confirmed by echocardiography. Light microscopy of two endocardial biopsy specimens showed no specific features but excluded the endomyocardial fibrosis of eosinophilic heart disease, amyloid, and specific heart muscle diseases. At necropsy in one case examined under light microscopy extensive patchy fibrosis was found throughout the endocardium, myocardium, and subepicardium, but there were no features typical of eosinophilic heart disease. Histopathological and biochemical examination of skeletal muscle identified no abnormality. The disease often had an insidious course over five to ten years after presentation. Bundle branch blocks, leading to complete atrioventricular block, however, often occurred and may be the first manifestation. Some individuals who survived into the fifth decade developed a progressive, non-wasting skeletal myopathy.
本文描述了一个患有常染色体显性遗传性限制性心肌病的意大利家族的五代情况。对四代家族成员进行了检查。症状通常在第三或第四个十年出现，但该疾病在儿童期也有发生。最初，病情表现为心室大小和收缩功能正常，但双心室舒张期充盈压升高，进而导致双房扩大。心导管检查显示左心室充盈模式为“下陷和高原”型。心电图通常显示ST段和T波有非特异性改变，以及提示明显心房扩大的改变，超声心动图证实了这些改变。两份心内膜活检标本的光镜检查未发现特异性特征，但排除了嗜酸性心脏病、淀粉样变性和特定心肌疾病的心肌内膜纤维化。在一例尸检中，光镜检查发现整个心内膜、心肌和心外膜下层有广泛的斑片状纤维化，但没有嗜酸性心脏病的典型特征。骨骼肌的组织病理学和生化检查未发现异常。该疾病在出现症状后的五到十年内通常病程隐匿。然而，束支传导阻滞常导致完全性房室传导阻滞，且可能是首发表现。一些存活到第五个十年的个体出现了进行性、非消瘦性骨骼肌病。
