Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.
Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.
复制标题
家族性限制性心肌病伴有房室传导阻滞和骨骼肌病。
作者：
A. Fitzpatrick;L. Shapiro;A. Rickards;P. Poole
五代意大利家庭与常染色体显性限制性心肌病的描述。四代人都被检查过了。症状通常在第三或第四个十年发展，但这种疾病确实发生在儿童时期。最初，这种疾病的特征是心室大小和收缩功能正常，双心室舒张期充盈压增加，从而导致双心房扩大。心脏导管检查显示左心室充盈模式为“下降和平台”。心电图通常显示ST段和T波的非特异性变化以及指示相当大的心房扩大的变化，这些变化通过超声心动图证实。两个内膜活检标本的光学显微镜检查显示没有特异性特征，但排除了嗜酸性心脏病、淀粉样蛋白和特定心肌疾病的内膜肌纤维化。尸检时，在光学显微镜下检查的1例病例中，在整个内膜、心肌和心外膜下发现广泛的片状纤维化，但没有嗜酸性心脏病的典型特征。骨骼肌组织病理学和生化检查未见异常。这种疾病通常在发病后5至10年内有一个隐匿的病程。束支分支传导阻滞，导致完全性房室传导阻滞，但经常发生，并可能是第一个表现。有些人谁生存到第五个十年发展为进行性，非消耗性骨骼肌病。
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.