Cardiomyopathy of limb-girdle muscular dystrophy

• Published in: Journal of the American College of Cardiology 1994-11, Vol.24 (5), p.1328-1333
• Main Authors: Mascarenhas, Daniel A.N., Spodick, David H., Chad, David A., Gilchrist, James, Townes, Philip L., Degirolami, Umberto, Mudge, Gilbert H., Maki, Dennis W., Bishop, Richard L.
• Format: Article
• Language: English
• Subjects: Adult; Cardiac Catheterization; Cardiomyopathy, Dilated - diagnosis; Cardiomyopathy, Dilated - genetics; Chromosomes, Human, Pair 13; Echocardiography; Electrocardiography; Female; Genetic Linkage; Genetic Markers; Humans; Middle Aged; Muscle, Skeletal - pathology; Muscular Dystrophies - genetics; Muscular Dystrophies - pathology; Pedigree; Ventricular Function, Left - physiology
• ISSN: 0735-1097; 1558-3597
• DOI: 10.1016/0735-1097(94)90116-3

Objectives. This study sought to find an association between dilated cardiomyopathy and limb-girdle muscular dystrophy. Background. Cardiomyopathy has been seen in various neuro-muscular disorders, but it has not been recognized to be associated with limb-girdle muscular dystrophy. Methods. We investigated three sisters with well documented limb-girdle dystrophy and congestive heart failure by the 3rd decade of life. All underwent noninvasive evaluation of left ventricular systolic function by both echocardiography and radionuclide scanning, and one also had cardiac catheterization. Deoxyribonucleic acid (DNA) linkage analysis was performed in these affected subjects and in the unaffected family members, and DNA was extracted from mononuclear cells with primer sequences 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 catheterization had no coronary artery disease. The affected subjects had the same paternal allele for three potential markers of limb-girdle muscular dystrophy but different maternal alleles. The very small family size did not permit statistical confirmation or refutation of linkagefor chromosome 13q markers. Conclusions. Demonstrable cardiomyopathy accompanying limb-girdle muscular dystrophy and its probable genetic associations require continued investigation by anticipating the cardiomyopathy in limb-girdle muscular dystrophy.