Immunohistochemical aspects of cardiomyopathy in a Duchenne carrier.

A high incidence of cardiomyopathy in carriers of Duchenne/Becker (DMD/BMD) gene has been pointed out by our work group since 1986 , thus suggesting that cardiac dysfunction was a primary feature of disease. The recent advances in molecular genetics which have demonstrated the locus of DMD gene and the lack of the normal gene product-dystrophin- in both skeletal and cardiac muscle in myopathic patients, has supported the view that skeletal myopathy and cardiomyopathy have the same genetic and molecular defect. In a study recently published on 233 Duchenne/Becker carriers followed more many years fron a cardiological point of view, we report that the cardiomyopathy in female carriers mirrors the evolution observed in Duchenne patients, but it occurs later in age with a phase lag of 15 to 20 years. We report an illustrative case of a DMD carrier in which the dystrophin-deficient cardiomyopathy was the only marker of her carrier condition.