Dilated cardiomyopathy of Becker-type muscular dystrophy with exon 4 deletion--a case report.
The authors report a 47-year-old man with Becker-type muscular dystrophy presenting with dilated cardiomyopathy. Left ventriculography showed diffuse severe hypokinesia: left ventricular end-diastolic volume index 193 mL/m2, left ventricular end-systolic volume index 143 mL/m2, and left ventricular ejection fraction 26%. Skeletal muscle biopsy demonstrated a dystrophic process. Genetic analysis revealed a deletion of exon 4. There was a difference in immunostaining pattern between skeletal muscles and cardiac muscles. Severe cardiac dysfunction in this case may be associated with the damage in dystrophin-deficient fibers.
Saotome
M
M
Division of Cardiology, Tohsei National Hospital, Shizuoka, Japan.
Yoshitomi
Y
Y
Kojima
S
S
Kuramochi
M
M
D002311:Cardiomyopathy, Dilated / Q000209:etiology* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002872:Chromosome Deletion; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009130:Muscle, Smooth / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics*; D016133:Polymerase Chain Reaction
D016189:Dystrophin