Search

A formal analysis of the mode of transmission of right ventricular cardiomyopathy was performed in seven families with this condition. Ninety-six subjects (81 family members, 15 connected) were studied. The index cases were family members who had died suddenly in their youth with autopsy evidence of massive fibrous-adipose right ventricular myocardial replacement. Pedigree analysis showed that 58 per cent of the family members were affected, with a male predominance (63% of men vs 53% of women). The kindreds were all normal and in none of the families were both parents affected. Carrier states were observed in both males and females and vertical transmission was demonstrated. Clinically, the disease was very variable with some cases showing widespread right ventricular involvement with or without cardiomegaly, and other cases showing localised right ventricular abnormalities. These data are consistent with a congenital disease with an autosomal dominant mode of inheritance with incomplete penetrance and variable expression.

The object of the study was to define spreading and quantitative criteria of left ventricular hypertrophy in echocardiography by using a "score"--for this, the left ventricle has been divided into 11 regions and a "score" attributed to each one of them--and to find the correlation with the vectocardiogram (VCG) in 42 patients with hypertrophic myocardiopathy (HM). The results obtained show the following: 1) the left ventricular hypertrophy aspect on the ECG and the VCG is very sensitive for the identification of a diffuse HM; 2) the necrosis, hemiblock or septal hypertrophy indicate a hypertrophy located in the forepart septum or the whole of the septum; 3) the giant T waves indicate a hypertrophy of the apex; 4) a left ventricular hypertrophy associated with a necrosis or a hemiblock indicate a global myocardiopathy, with the basal region of the septum largely affected.