Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.

摘要: Five generations of an Italian family with autosomal dominant restrictive cardiomyopathy are described. Members four were examined. Symptoms usually developed in the third or fourth decade but disease did occur childhood. Initially condition was characterised by normal ventricular size and systolic function increased diastolic filling pressures both ventricles consequent bi-atrial enlargement. Cardiac catheterisation showed a left pattern "dip plateau". The electrocardiogram typically non-specific changes ST segment T wave indicating considerable atrial enlargement, which confirmed echocardiography. Light microscopy two endocardial biopsy specimens no specific features excluded endomyocardial fibrosis eosinophilic heart disease, amyloid, muscle diseases. At necropsy one case examined under light extensive patchy found throughout endocardium, myocardium, subepicardium, there typical disease. Histopathological biochemical examination skeletal identified abnormality. often had insidious course over five to ten years after presentation. Bundle branch blocks, leading complete atrioventricular block, however, occurred may be first manifestation. Some individuals who survived into fifth progressive, non-wasting myopathy.