CARDIOMYOPATHY OF LIMB-GIRDLE MUSCULAR-DYSTROPHY

Objectives. This study sought to find an association between dilated c ardiomyopathy and limb-girdle muscular dystrophy. Background. Cardiomy opathy has been seen in various neuromuscular disorders, but it has no t been recognized to be associated with limb-girdle muscular dystrophy . Methods. We investigated three sisters with well documented limb gir dle dystrophy and congestive heart failure by the 3rd decade of life. All underwent noninvasive evaluation of left ventricular systolic func tion by both echocardiography and radionuclide scanning, and one also had cardiac catheterization. Deoxibonucleic acid (DNA) linkage analysi s was performed in these affected subjects and in the unaffected famil y members, and DNA was extracted from mononuclear cells with primer se quences for three chromosome 13q microsatellite markers. Results. The parents had no evidence of clinical disease, but all three sisters had echocardiographic evidence of dilated cardiomyopathy. The sister with additional evidence of left ventricular dysfunction by cardiac cathet erization had no coronary artery disease. The affected subjects had th e same paternal allele for three potential markers of limb-girdle musc ular dystrophy but different maternal alleles. The very small family s ize did not permit statistical confirmation or refutation of linkage f or chromosome 13q markers. Conclusions. Demonstrable cardiomyopathy ac companying limb girdle muscular dystrophy and its probable genetic ass ociations require continued investigation by anticipating the cardiomy opathy in limb-girdle muscular dystrophy.