Dystrophic degeneration of papillary muscle and ventricular myocardium. A basis for mitral valve prolapse in Duchenne's muscular dystrophy

Abstract

The hearts of three children who died with Duchenne's progressive muscular dystrophy and features of mitral valve prolapse syndrome were examined to find if the valve disorder arose from cardiomyopathy due to the primary disease or from dystrophic changes in the mitral valve itself. Gross, histologic and ultrastructural features of mitral valve annulus, anterior and posterior leaflets, chordae tendineae, right and left ventricles, and anterior and posterior papillary muscles were compared with those of similar tissues from normal children of matched age and sex. Fibrosis and myofibrillar lysis - most extensive in posterior papillary muscle and in the posterobasal segment of the left ventricle - were the main histopathologic findings. Myofibrillar lysis was characterized by a total loss of actin and myosin myofilaments. By contrast, the mitral valve annulus, its leaflets and the origin, distribution pattern, length and thickness of chordae tendineae were entirely normal. These observations establish that mitral valve prolapse syndrome in Duchenne's dystrophy is an expression of cardiomyopathy involving papillary muscle and ventricular myocardium rather than a result of dystrophic changes in the mitral valve leaflets, annulus or chordae tendineae.