Dystrophin analysis in idiopathic dilated cardiomyopathy.
Idiopathic dilated cardiomyopathy (DCM) is characterised by ventricular dilatation and impaired systolic function resulting in congestive heart failure and frequently death. A dilated cardiomyopathy is common in patients with symptomatic Duchenne/Becker muscular dystrophy, a disease caused by dystrophin gene defects. However, cardiomyopathy is rarely the predominant clinical feature of this form of muscular dystrophy. To determine whether dystrophin gene defects might account for a significant number of patients with apparently isolated idiopathic DCM, we performed dystrophin gene analysis in 27 DCM patients, who were ascertained as part of a prospective study on idiopathic DCM. No dystrophin gene defects were found in our patients, whose average age was 50 years. These data suggest that dystrophin defects are not a common cause of idiopathic DCM in this age group in the absence of skeletal muscle cramps or weakness.
Michels
V V
VV
Department of Medical Genetics, Mayo Clinic/Foundation, Rochester, Minnesota 55905.
Pastores
G M
GM
Moll
P P
PP
Driscoll
D J
DJ
Miller
F A
FA
Burnett
J C
JC
Rodeheffer
R J
RJ
Tajik
J A
JA
Beggs
A H
AH
Kunkel
L M
LM
D015139:Blotting, Southern; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011446:Prospective Studies
D016189:Dystrophin