A young woman with humeroperoneal muscular dystrophy and contractures received a 
heart transplant for a severe dilated cardiomyopathy. Cardiac histopathology 
consisted of myocyte hypertrophy, interstitial fibrosis, and nuclear 
hyperchromaticity without mitochondrial abnormalities. Myopathy and heart 
disease were not clinically evident in her family, although three relatives had 
unexplained shortened Achilles tendons without weakness. Tendon contractures may 
be a partial expression of this myopathic disorder, suggesting an autosomal 
dominant inheritance with variable penetrance. A muscular dystrophy clinically 
similar to that of the Emery-Dreifuss (EDMD) type can thus occur in women. 
Rather than the cardiac arrhythmias typical of EDMD, a dilated cardiomyopathy 
may occur and present with severe congestive heart failure. This is the first 
report of cardiac transplantation in such a case.