Familial Cardiomyopathy

The diagnosis of primary myocardial disease or cardiomyopathy is made by definition in patients with clinical radiological and electrocardiographic signs of heart disease which cannot be included in one of the well-defined nosological entities such as congenital rheumatic or coronary heart disease. Neither is the heart affection secondary to any systemic disease such as collagen diseases progressive muscular dystrophy or amyloidosis. Familial cardiomyopathy was first described by Evans in 1949. The familial characteristic depends upon finding a number of offspring affected in one family. This report deals with 11 families collected during the last 7 years. Of the 98 members examined 47 were found affected. The clinical features radiological and electrocardiographic findings and serum enzyme alterations are presented. The clinical features include a history of dizziness or loss of consciousness cardiac arrhythmias and the possibility of sudden death. The electrocardiogram indicates atrioventricular conduction defects with in a few cases complete AV block and Adams-Stokes attacks ventricular hypertrophy mostly leftintraventricular block and sometimes the pattern of the Wolff-Parkinson-White syndrome. The heart is usually enlarged on X-ray or has an ‘unusual’ shape. The necessity of a complete examination of all the members of the patient’s family is stressed. The genetic aspects are discussed and appear to conform to genetic transmission by an autosomal dominant gene with high penetrance.