Cardiomyopathy of limb-girdle muscular dystrophy.
OBJECTIVE
This study sought to find an association between dilated cardiomyopathy and limb-girdle muscular dystrophy.


BACKGROUND
Cardiomyopathy has been seen in various neuromuscular 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 of 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 linkage for 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.
Mascarenhas
D A
DA
Division of Cardiology, St. Vincent Hospital, Worcester, Massachusetts 01604.
Spodick
D H
DH
Chad
D A
DA
Gilchrist
J
J
Townes
P L
PL
DeGirolami
U
U
Mudge
G H
GH
Maki
D W
DW
Bishop
R L
RL
D000328:Adult; D006328:Cardiac Catheterization; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D016277:Ventricular Function, Left / Q000502:physiology
D005819:Genetic Markers